| human | Q5 |
| P496 | ORCID iD | 0000-0002-7318-4344 |
| P106 | occupation | researcher | Q1650915 |
| Q37636715 | A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy. |
| Q89849299 | A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy |
| Q34108725 | A cytogenetic study in a large population of intellectually disabled Indonesians |
| Q33698314 | A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C. |
| Q24337475 | Arts syndrome is caused by loss-of-function mutations in PRPS1 |
| Q34485789 | Assessment of left ventricular geometrical patterns and function among hypertensive patients at a tertiary hospital, Northern Tanzania |
| Q38331099 | Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability |
| Q28251106 | Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19 |
| Q24655458 | Clinical and molecular phenotype of Aicardi-Goutieres syndrome |
| Q28283899 | Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome) |
| Q24298562 | Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome |
| Q28204904 | Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome |
| Q57990835 | Erratum: Corrigendum: Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome) |
| Q57733983 | Erratum: Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy |
| Q34613345 | Fatigue is a frequent and clinically relevant problem in Ehlers-Danlos Syndrome |
| Q29031149 | Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: Clinical and psychometric data and results of linkage analysis |
| Q42245966 | Freeman-Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa |
| Q33905928 | Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome |
| Q34507299 | Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype |
| Q51921459 | Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome. |
| Q33570147 | Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome |
| Q24669780 | Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome |
| Q34513936 | Mowat-Wilson syndrome: the first clinical and molecular report of an indonesian patient |
| Q51770514 | Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. |
| Q44640259 | Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects. |
| Q36666925 | Mutations in MED12 cause X-linked Ohdo syndrome |
| Q24300737 | Mutations in a new member of the chromodomain gene family cause CHARGE syndrome |
| Q24534092 | Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation |
| Q24530632 | Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation |
| Q28252435 | Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus |
| Q24337778 | Mutations in the human TBX4 gene cause small patella syndrome |
| Q28186625 | Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation |
| Q33904573 | Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome |
| Q24338296 | Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response |
| Q48491282 | Neurologic aspects of MECP2 gene duplication in male patients |
| Q34205119 | Nonsyndromic X-linked mental retardation: where are the missing mutations? |
| Q28256801 | Novel mutations in three patients with LGMD2C with phenotypic differences |
| Q34152571 | P63 gene mutations and human developmental syndromes. |
| Q57733963 | Recurrent deletion ofZNF630at Xp11.23 is not associated with mental retardation |
| Q39451564 | Respiratory Failure due to Severe Obesity and Kyphoscoliosis in a 24-Year-Old Male with Molecularly Confirmed Prader-Willi Syndrome in Tertiary Hospital in Northern Tanzania |
| Q34326032 | Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy |
| Q34982585 | Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular study |
| Q34705212 | The clinical spectrum of complete FBN1 allele deletions |
| Q34637877 | The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family |
| Q24561792 | Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency |
| Q24306829 | Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8 |
| Q24534259 | X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family |
| Q29027540 | X-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3 |
| Q83486192 | Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax |
| Q34398844 | ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation |
| Q34643708 | p.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and molecular report of Indonesian patients |
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