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UnknownBiallelic Variants in the COLGALT1 Gene Causes Severe Congenital Porencephaly: A Case Report.
Not available
S-EPMC7943220 | biostudies-literature
UnknownSystematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation.
Not available
S-EPMC10611741 | biostudies-literature
UnknownUncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants.
Not available
S-EPMC11711235 | biostudies-literature
UnknownThe histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations.
Not available
S-EPMC6420893 | biostudies-literature
UnknownOptical genome mapping enables accurate testing of large repeat expansions.
Not available
S-EPMC12047237 | biostudies-literature
UnknownMissense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome.
Not available
S-EPMC3613162 | biostudies-literature
UnknownDTYMK is essential for genome integrity and neuronal survival.
Not available
S-EPMC8742820 | biostudies-literature
UnknownIntegrin α7 Mutations Are Associated With Adult-Onset Cardiac Dysfunction in Humans and Mice.
Not available
S-EPMC9851448 | biostudies-literature
UnknownBi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.
Not available
S-EPMC6848997 | biostudies-literature
UnknownBiallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness.
Not available
S-EPMC7399534 | biostudies-literature
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