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UnknownThe prevalence of nine genetic disorders in a dog population from Belgium, the Netherlands and Germany.
Not available
S-EPMC3777979 | biostudies-literature
UnknownBroadening the Spectrum of Loss-of-Function Variants in NPR-C-Related Extreme Tall Stature.
Not available
S-EPMC8879884 | biostudies-literature
UnknownArray-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents.
Not available
S-EPMC2564641 | biostudies-literature
UnknownAn international parentage and identification panel for the domestic cat (Felis catus).
Not available
S-EPMC1974777 | biostudies-literature
UnknownCraniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid.
Not available
S-EPMC3213388 | biostudies-literature
TranscriptomicsAnalysis of copy number changes and complex rearrangements in patients with congenital abnormalities
Chromothripsis represents a novel phenomenon in the structural variation landscape of cancer genomes. Here, we analyzed the genomes of ten patients with congenital disease that were preselected to carry complex chromosomal rearrangements (CCRs) with more than two breakpoints. The rearrangements disp...
ORGANISM(S): Homo sapiens 
2012-05-10 | E-GEOD-37906 | biostudies-arrayexpress
ProteomicsDual molecular mechanisms and functional compensation by RBMXL1 retrocopy underlie RBMX-associated neurodevelopmental syndrome
Genetic variants in RBMX may cause X-linked neurodevelopmental syndromes, but their pathogenicity and mechanisms remain unclear. Here, we provide definitive evidence from nine unrelated families that RBMX variants lead to neurodevelopmental disorders characterised by intellectual disability, brain m...
ORGANISM(S): Homo sapiens (Human) 
2026-07-28 | PXD066823 | Pride
Neurodevelopmental disorder Evolution Splicing Rbmx Rbmxl1 retrocopy 
UnknownRapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands.
Not available
S-EPMC10257607 | biostudies-literature
UnknownDe Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
Not available
S-EPMC5673671 | biostudies-literature
UnknownMechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.
Not available
S-EPMC10005179 | biostudies-literature
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