| human | Q5 |
| P2080 | AcademiaNet ID | 1289314 |
| P6231 | BDELIS ID | 84761 |
| P6178 | Dimensions author ID | 0633427323.43 |
| P8168 | FactGrid item ID | Q885111 |
| P227 | GND ID | 1089709382 |
| P2671 | Google Knowledge Graph ID | /g/11bx1sqc_d |
| P10299 | Leopoldina member ID (new) | anita-rauch |
| P3413 | Leopoldina member ID (superseded) | 8137 |
| P496 | ORCID iD | 0000-0003-2930-3163 |
| P3829 | Publons author ID | 2555280 |
| P1053 | ResearcherID | C-5568-2014 |
| P2038 | ResearchGate profile ID | Anita-Rauch |
| P10013 | SNSF person ID | 561748 |
| P10861 | Springer Nature person ID | 0633427323.43 |
| P108 | employer | University of Zurich | Q206702 |
| P734 | family name | Rauch | Q2133058 |
| Rauch | Q2133058 | ||
| Rauch | Q2133058 | ||
| P735 | given name | Anita | Q925678 |
| Anita | Q925678 | ||
| P463 | member of | German Academy of Sciences Leopoldina | Q543804 |
| P106 | occupation | researcher | Q1650915 |
| P21 | sex or gender | female | Q6581072 |
| Q34118197 | "Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene |
| Q81894940 | 6.7 Mb interstitial duplication in chromosome band 11q24.2q25 associated with infertility, minor dysmorphic features and normal psychomotor development |
| Q50795840 | 7 Mb de novo deletion within 8q21 in a patient with distal arthrogryposis type 2B (DA2B). |
| Q51925743 | 9 Mb deletion including chromosome band 3q24 associated with unsuspicious facial gestalt, persistent ductus omphaloentericus, mild mental retardation and tic. |
| Q56567267 | ?Mowat-Wilson? syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene |
| Q51710826 | A 15Mb duplication of 6q24.1-q25.3 associated with typical but milder features of the duplication 6q syndrome. |
| Q91969019 | A clinical scoring system for congenital contractural arachnodactyly |
| Q44783752 | A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. |
| Q51958807 | A de novo 7.6Mb tandem duplication of 14q32.2-qter associated with primordial short stature with neurosecretory growth hormone dysfunction, distinct facial anomalies and mild developmental delay. |
| Q33909739 | A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts |
| Q51909005 | A male infant with a 9.6 Mb terminal Xp deletion including the OA1 locus: Limit of viability of Xp deletions in males. |
| Q51917663 | A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype. |
| Q50687726 | A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype. |
| Q44360476 | A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP. |
| Q55057831 | A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes. |
| Q52101982 | A novel 5q35.3 subtelomeric deletion syndrome. |
| Q34328088 | A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients |
| Q52147061 | A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2. |
| Q51637927 | A severe congenital myasthenic syndrome with "dropped head" caused by novel MUSK mutations. |
| Q67574156 | A study of ten small supernumerary (marker) chromosomes identified by fluorescence in situ hybridization (FISH) |
| Q59498952 | A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in theNF1 gene |
| Q57987136 | Achondrogenesis Type IA (Houston-Harris): A Still-Unresolved Molecular Phenotype |
| Q33909933 | Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome |
| Q34329440 | Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency |
| Q37373025 | Association between C677T polymorphism of methylene tetrahydrofolate reductase and congenital heart disease: meta-analysis of 7697 cases and 13,125 controls |
| Q51920452 | Atypical ZFHX1B mutation associated with a mild Mowat-Wilson syndrome phenotype. |
| Q47291136 | Autosomal recessive primary microcephaly due to ASPM mutations: An update |
| Q44715090 | Autosomal-dominant hypertension with type E brachydactyly is caused by rearrangement on the short arm of chromosome 12. |
| Q44272953 | Basic aspects of medical genetics |
| Q101411004 | Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities |
| Q64042188 | Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism |
| Q54765023 | Biallelic SEMA3A defects cause a novel type of syndromic short stature. |
| Q55514208 | Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development. |
| Q73486543 | Brachydactyly in a child with duplication‐deficiency subsequent to t(15;20)(q25.2;p12.2)mat. Candidate regions on one or both chromosomes? |
| Q89517087 | CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects |
| Q24312725 | CEP152 is a genome maintenance protein disrupted in Seckel syndrome |
| Q24315560 | CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila |
| Q91229447 | CUGC for Simpson-Golabi-Behmel syndrome (SGBS) |
| Q77616520 | Cervical origin of the subclavian artery as a specific marker for monosomy 22q11 |
| Q94452526 | Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome |
| Q95627187 | Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome |
| Q36957666 | Chromosome 5q subtelomeric deletion syndrome |
| Q53686258 | Clinical and functional characterization of two novel ZBTB20 mutations causing Primrose syndrome. |
| Q55661672 | Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia. |
| Q51927513 | Clinical and mutational spectrum of Mowat-Wilson syndrome. |
| Q83318588 | Clinical decisions for treatment of different staged bladder cancer based on multitarget fluorescence in situ hybridization assays? |
| Q55261689 | Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature. |
| Q41734111 | Clinical utility gene card for: DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, chromosome 22q11.2 deletion syndrome (22q11.2, TBX1). |
| Q38413219 | Clinical utility gene card for: Mowat-Wilson syndrome |
| Q48613581 | Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity. |
| Q38348489 | Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot. |
| Q48300855 | Confirmation of mutations in PROSC as a novel cause of vitamin B 6 -dependent epilepsy. |
| Q36439318 | Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease |
| Q88157352 | Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome |
| Q24682743 | Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1 |
| Q90484226 | De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects |
| Q56395221 | De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder |
| Q28245379 | De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females |
| Q37010390 | De novo mutations in the genome organizer CTCF cause intellectual disability. |
| Q55671561 | De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome |
| Q91239881 | De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy |
| Q64039870 | Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder |
| Q123397690 | Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans |
| Q51913531 | Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation. |
| Q48429122 | Disruption of ST5 is associated with mental retardation and multiple congenital anomalies |
| Q38271699 | Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice |
| Q37186040 | Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability. |
| Q37466137 | Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination. |
| Q92179810 | Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly |
| Q91945714 | Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature |
| Q57987140 | Exclusion of TCOF1 mutations in a case of bilateral Goldenhar syndrome and one familial case of microtia with meatal atresia |
| Q59319058 | Exome sequencing in unspecific intellectual disability and rare disorders |
| Q21261497 | Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1 |
| Q48090851 | FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum |
| Q79370612 | Facial phenotype allows diagnosis of Mowat-Wilson syndrome in the absence of Hirschsprung disease |
| Q50793443 | Familial short stature due to a 5q22.1-q23.2 duplication refines the 5q duplication spectrum. |
| Q90517377 | Fetal tuberous sclerosis and the diagnosis of paternal gonadal mosaicism |
| Q64040232 | Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes |
| Q51887118 | Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients. |
| Q55868116 | Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria |
| Q28270890 | Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features |
| Q57723570 | Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features |
| Q38779251 | Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy. |
| Q28943387 | Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot |
| Q34211444 | Genome-wide copy number profiling using a 100K SNP array reveals novel disease-related genes BORIS and TSHZ1 in juvenile angiofibroma |
| Q96962256 | Genome-wide non-invasive prenatal testing in single- and multiple-pregnancies at any risk: Identification of maternal polymorphisms to reduce the number of unnecessary invasive confirmation testing |
| Q40527210 | Genotype-phenotype correlations in Noonan syndrome |
| Q39395155 | Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation. |
| Q34344840 | Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation |
| Q28297024 | Germline KRAS mutations cause Noonan syndrome |
| Q34327156 | Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap |
| Q34653075 | Guidelines for molecular karyotyping in constitutional genetic diagnosis |
| Q35843242 | Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability |
| Q24682812 | Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome) |
| Q64039319 | Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy |
| Q47152682 | High resolution chromosomal microarray analysis in paediatric obsessive-compulsive disorder |
| Q39177183 | High-resolution chromosomal microarrays in prenatal diagnosis significantly increase diagnostic power |
| Q91985366 | High-resolution chromosomal microarray analysis for copy-number variations in high-functioning autism reveals large aberration typical for intellectual disability |
| Q52919624 | Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene. |
| Q24295078 | Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions |
| Q55058644 | Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations. |
| Q74111283 | Hypoparathyroidism in conotruncal heart defects |
| Q28117761 | Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6) |
| Q57897323 | IndependentNF1andPTPN11mutations in a family with neurofibromatosis-Noonan syndrome |
| Q57897031 | Infantile Epileptic Encephalopathy, Transient Choreoathetotic Movements, and Hypersomnia due to a De Novo Missense Mutation in the SCN2A Gene |
| Q89603411 | Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose |
| Q52912983 | Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients. |
| Q38458980 | Inversion region for hypertension and brachydactyly on chromosome 12p features multiple splicing and noncoding RNA. |
| Q39015749 | LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this condition |
| Q80428079 | Laterality of the aortic arch and anomalies of the subclavian artery-reliable indicators for 22q11.2 deletion syndromes? |
| Q123397692 | Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype |
| Q50211796 | Low-Level Chromosomal Mosaicism in Neurodevelopmental Disorders. |
| Q47861471 | Macrocerebellum: significance and pathogenic considerations |
| Q33960453 | Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13. |
| Q38953350 | Microarrays in prenatal diagnosis. |
| Q41929908 | Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome. |
| Q37267614 | Microcephalin and pericentrin regulate mitotic entry via centrosome-associated Chk1 |
| Q41919768 | Microcephaly, lissencephaly, Hirschsprung disease and tetralogy of Fallot: a new syndrome? |
| Q41935741 | Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature. |
| Q82694203 | Mild clinical phenotype and subtle radiographic findings in an infant with cartilage-hair hypoplasia |
| Q34212342 | Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus |
| Q50587974 | Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations. |
| Q37004613 | Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays |
| Q47337472 | Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions |
| Q51738576 | Mother and daughter with a terminal Xp deletion: implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome. |
| Q57079523 | Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems |
| Q24294551 | Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems |
| Q36098655 | Mutations in CDK5RAP2 cause Seckel syndrome |
| Q37396889 | Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant |
| Q42871027 | Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes |
| Q51850375 | Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. |
| Q24295098 | Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation |
| Q28259883 | Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability |
| Q28263536 | Mutations in the pericentrin (PCNT) gene cause primordial dwarfism |
| Q40736578 | N(8)-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics |
| Q24324062 | NEK1 mutations cause short-rib polydactyly syndrome type majewski |
| Q59334977 | Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium |
| Q24319733 | Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations |
| Q101226663 | New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics |
| Q39910326 | Noninvasive prenatal testing: more caution in counseling is needed in high risk pregnancies with ultrasound abnormalities. |
| Q34309956 | Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome |
| Q96348028 | Novel Morphological and Genetic Features of Fumarate Hydratase Deficient Renal Cell Carcinoma in HLRCC Syndrome Patients with a Tailored Therapeutic Approach |
| Q52772454 | Novel STRA6 null mutations in the original family described with Matthew-Wood syndrome. |
| Q59499078 | Novel autosomal recessive progressive hyperpigmentation syndrome |
| Q40432173 | Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis |
| Q34475937 | PDE3A mutations cause autosomal dominant hypertension with brachydactyly |
| Q92829035 | Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling |
| Q47210500 | Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care |
| Q24300678 | Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls |
| Q33626540 | Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency |
| Q37317012 | Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12. |
| Q93196878 | Prenatal diagnosis of HNF1B-associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome? |
| Q92679895 | Prevalence of genetic susceptibility for breast and ovarian cancer in a non-cancer related study population: secondary germline findings from a Swiss single centre cohort |
| Q57260972 | Pulmonary artery sling and congenital tracheal stenosis in another patient with Mowat–Wilson syndrome |
| Q51924256 | Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect (PDAC) syndrome due to STRA6 mutations--what are the minimal criteria? |
| Q28275978 | Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study |
| Q34629255 | Rare copy number variants are a common cause of short stature |
| Q91337066 | Rare copy number variants in individuals at clinical high risk for psychosis: Enrichment of synaptic/brain-related functional pathways |
| Q83878625 | Reply to Hochstenbach et al. 'Molecular karyotyping' |
| Q43232432 | SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome |
| Q39001115 | STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability. |
| Q53850472 | Search for somatic 22q11.2 deletions in patients with conotruncal heart defects. |
| Q98197842 | Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia-telangiectasia mutated gene) |
| Q51904913 | Severe skeletal dysplasia caused by undiagnosed hypothyroidism. |
| Q52561525 | Severe, neonatal-onset OTC deficiency in twin sisters with a de novo balanced reciprocal translocation t(X;5)(p21.1;q11). |
| Q24535876 | Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator |
| Q64041245 | Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures |
| Q73051159 | Spectrum of arterial obstructions caused by one elastin gene point mutation |
| Q53460869 | Spontaneous development and rupture of pulmonary artery aneurysm: a rare complication in an infant with peripheral pulmonary artery stenoses due to mutation of the elastin gene. |
| Q46486833 | Surprisingly good outcome in antenatal diagnosis of severe hydrocephalus related to CCDC88C deficiency. |
| Q96649046 | Swiss newborn screening for severe T and B cell deficiency with a combined TREC/KREC assay - management recommendations |
| Q41910576 | Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants. |
| Q55053742 | The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B. |
| Q55738743 | The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): Report of eight cases including a living child and further evidence for auto |
| Q101237515 | The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction |
| Q34238113 | The clinical significance of small copy number variants in neurodevelopmental disorders |
| Q33924011 | The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis |
| Q55097554 | The face of Noonan syndrome: Does phenotype predict genotype. |
| Q37852210 | The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum |
| Q64042033 | The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study |
| Q41935642 | The shortest of the short: pericentrin mutations and beyond |
| Q63407748 | The smallest teeth in the world are caused by mutations in the PCNT gene |
| Q53781082 | The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies. |
| Q24645273 | Transcription factor E2-2 is an essential and specific regulator of plasmacytoid dendritic cell development |
| Q44945495 | Two novel mutations in the insulin binding subunit of the insulin receptor gene without insulin binding impairment in a patient with Rabson-Mendenhall syndrome |
| Q24677294 | Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum |
| Q28251358 | Variants in CUL4B are associated with cerebral malformations |
| Q38432867 | YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction |
| Q50706840 | [Intellectual disability - a frequent reason for referral to medical genetics]. |
| Anita Rauch | wikipedia |
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