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UnknownThe Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species.
Not available
S-EPMC7056945 | biostudies-literature
UnknownWhole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice-site and Charcot-Marie-Tooth phenotype with early onset symptoms.
Not available
S-EPMC6565564 | biostudies-literature
UnknownDe Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.
Not available
S-EPMC6817525 | biostudies-literature
UnknownMagnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy.
Not available
S-EPMC6893088 | biostudies-literature
UnknownDe Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
Not available
S-EPMC6699142 | biostudies-literature
UnknownIgG4-related disease: Association with a rare gene variant expressed in cytotoxic T cells.
Not available
S-EPMC6565556 | biostudies-literature
UnknownLysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.
Not available
S-EPMC6562152 | biostudies-literature
UnknownHeterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis.
Not available
S-EPMC6688907 | biostudies-literature
UnknownA toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing.
Not available
S-EPMC7385984 | biostudies-literature
UnknownA resource of lipidomics and metabolomics data from individuals with undiagnosed diseases.
Not available
S-EPMC8060404 | biostudies-literature
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