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UnknownThe TRIM37 gene encodes a peroxisomal RING-B-box-coiled-coil protein: classification of mulibrey nanism as a new peroxisomal disorder.
Not available
S-EPMC447596 | biostudies-literature
UnknownComprehensive copy number and gene expression profiling of the 17q23 amplicon in human breast cancer.
Not available
S-EPMC33278 | biostudies-literature
UnknownTruncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome.
Not available
S-EPMC5589071 | biostudies-literature
UnknownHigh-resolution physical and genetic mapping of the critical region for Meckel syndrome and Mulibrey Nanism on chromosome 17q22-q23.
Not available
S-EPMC310730 | biostudies-literature
UnknownOptical genome mapping unveils hidden structural variants in neurodevelopmental disorders.
Not available
S-EPMC11099145 | biostudies-literature
UnknownGenome sequencing reveals CCDC88A variants in malformations of cortical development and immune dysfunction.
Not available
S-EPMC12278729 | biostudies-literature
UnknownX-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes.
Not available
S-EPMC4022384 | biostudies-literature
UnknownCongenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance.
Not available
S-EPMC9979489 | biostudies-literature
UnknownPhenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population.
Not available
S-EPMC6777631 | biostudies-literature
UnknownRare novel variants in the ZIC3 gene cause X-linked heterotaxy.
Not available
S-EPMC5117940 | biostudies-literature
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