scholarly article | Q13442814 |
P50 | author | Piotr Stawiński | Q90289387 |
Maria Franaszczyk | Q116782932 | ||
Rafał Płoski | Q42684599 | ||
Agnieszka Pollak | Q47162784 | ||
Zofia Bilińska | Q48861383 | ||
Mateusz Śpiewak | Q57070631 | ||
Joanna Kosińska | Q57550986 | ||
P2093 | author name string | Hubert Seggewiss | |
Ewa Michalak | |||
Sonja Müller | |||
P433 | issue | 2 | |
P407 | language of work or name | English | Q1860 |
P304 | page(s) | e2-5 | |
P577 | publication date | 2014-01-01 | |
P1433 | published in | Circulation Research | Q2599020 |
P1476 | title | Does p.Q247X in TRIM63 cause human hypertrophic cardiomyopathy? | |
P478 | volume | 114 |
Q64100401 | A Novel Monoallelic Nonsense Mutation in the NFKB2 Gene Does Not Cause a Clinical Manifestation |
Q100754373 | A combination of quinidine/mexiletine reduces arrhythmia in dilated cardiomyopathy in two patients with R814W SCN5A mutation |
Q35575325 | A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations |
Q90289394 | AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant |
Q89511419 | Analysis of De Novo Mutations in Sporadic Cardiomyopathies Emphasizes Their Clinical Relevance and Points to Novel Candidate Genes |
Q45933371 | Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene. |
Q36605196 | BAG3-related myopathy, polyneuropathy and cardiomyopathy with long QT syndrome |
Q58618777 | Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy |
Q57023932 | Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency |
Q37218530 | Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype |
Q37497582 | Causality in genetics: the gradient of genetic effects and back to Koch's postulates of causality |
Q53242563 | Co-occurrence of Jalili syndrome and muscular overgrowth. |
Q58316409 | Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs |
Q36308097 | Diagnostics in human genetics : Integration of phenotypic and genomic data |
Q36824276 | Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing. |
Q46696457 | Evidence against RAB40AL being the locus for Martin-Probst X-linked deafness-intellectual disability syndrome. |
Q55059857 | Evidence for troponin C (TNNC1) as a gene for autosomal recessive restrictive cardiomyopathy with fatal outcome in infancy. |
Q35102106 | Examining rare and low-frequency genetic variants previously associated with lone or familial forms of atrial fibrillation in an electronic medical record system: a cautionary note. |
Q55059859 | Further evidence for GRIN2B mutation as the cause of severe epileptic encephalopathy. |
Q57484322 | Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia |
Q33794084 | Homozygous truncating mutation in NRAP gene identified by whole exome sequencing in a patient with dilated cardiomyopathy. |
Q38629282 | Human genotype-phenotype databases: aims, challenges and opportunities |
Q47775840 | Isolated Hearing Impairment Caused by SPATA5 Mutations in a Family with Variable Phenotypic Expression. |
Q33746898 | Iterative Sequencing and Variant Screening (ISVS) as a novel pathogenic mutations search strategy - application for TMPRSS3 mutations screen |
Q50349009 | KIF5A de novo mutation associated with myoclonic seizures and neonatal onset progressive leukoencephalopathy. |
Q50092105 | Mild Zellweger syndrome due to a novel PEX6 mutation: correlation between clinical phenotype and in silico prediction of variant pathogenicity. |
Q90664436 | Mild phenotype of glutaric aciduria type 1 in polish patients - novel data from a group of 13 cases |
Q28975764 | NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood |
Q50449574 | New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations. |
Q34530586 | New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre |
Q36866985 | Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations. |
Q36894743 | No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction |
Q30367238 | Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss. |
Q59697346 | Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression |
Q48095464 | Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome. |
Q30363402 | Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome. |
Q38367071 | Pediatric patient with hyperketotic hypoglycemia diagnosed with glycogen synthase deficiency due to the novel homozygous mutation in GYS2. |
Q55344743 | Rapid and effective response of the R222Q SCN5A to quinidine treatment in a patient with Purkinje-related ventricular arrhythmia and familial dilated cardiomyopathy: a case report. |
Q33907456 | Rare variants in genes encoding MuRF1 and MuRF2 are modifiers of hypertrophic cardiomyopathy. |
Q54679822 | SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression. |
Q50316569 | Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease. |
Q33927632 | The BAG3 gene variants in Polish patients with dilated cardiomyopathy: four novel mutations and a genotype-phenotype correlation |
Q36238050 | Titin Truncating Variants in Dilated Cardiomyopathy - Prevalence and Genotype-Phenotype Correlations |
Q47162761 | Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss |
Search more.