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UnknownBi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
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S-EPMC6408318 | biostudies-literature
UnknownThe Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease.
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S-EPMC5294757 | biostudies-literature
UnknownPartial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.
Not available
S-EPMC6925349 | biostudies-literature
UnknownA Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
Not available
S-EPMC5223093 | biostudies-literature
UnknownA Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
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S-EPMC5294886 | biostudies-literature
UnknownMARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome.
Not available
S-EPMC5670038 | biostudies-literature
UnknownLooking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.
Not available
S-EPMC5851806 | biostudies-literature
UnknownMapping genomic loci implicates genes and synaptic biology in schizophrenia.
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S-EPMC9392466 | biostudies-literature
UnknownDeep learning enhanced ALPS reveals genetic and environmental factors of brain glymphatic function.
Not available
S-EPMC12878677 | biostudies-literature
UnknownExtended pharmacological thromboprophylaxis and clinically relevant venous thromboembolism after major abdominal and pelvic surgery: international, prospective, propensity score-weighted cohort study.
Not available
S-EPMC11894929 | biostudies-literature
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