about
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilinMutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.High prevalence of SLC6A8 deficiency in X-linked mental retardationA SWI/SNF-related autism syndrome caused by de novo mutations in ADNPLoss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndromeDe novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsyTAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological ManifestationsRenpenning syndrome comes into focusVariants in CUL4B are associated with cerebral malformationsDe novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndromeGenotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1)Novel JARID1C/SMCX mutations in patients with X-linked mental retardationHomozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problemsPhelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype?De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.
P50
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P50
description
hulumtuese
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Tjitske Kleefstra
@ast
Tjitske Kleefstra
@en
Tjitske Kleefstra
@es
Tjitske Kleefstra
@nl
Tjitske Kleefstra
@sl
type
label
Tjitske Kleefstra
@ast
Tjitske Kleefstra
@en
Tjitske Kleefstra
@es
Tjitske Kleefstra
@nl
Tjitske Kleefstra
@sl
prefLabel
Tjitske Kleefstra
@ast
Tjitske Kleefstra
@en
Tjitske Kleefstra
@es
Tjitske Kleefstra
@nl
Tjitske Kleefstra
@sl
P106
P21
P31
P569
2000-01-01T00:00:00Z