Sort   by:  
 Page size 
UnknownBiallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
Not available
S-EPMC7447524 | biostudies-literature
UnknownBiallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
Not available
S-EPMC6117612 | biostudies-literature
UnknownProgressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum.
Not available
S-EPMC8222855 | biostudies-literature
UnknownA Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
Not available
S-EPMC5294886 | biostudies-literature
UnknownA resource of lipidomics and metabolomics data from individuals with undiagnosed diseases.
Not available
S-EPMC8060404 | biostudies-literature
UnknownIgG4-related disease: Association with a rare gene variant expressed in cytotoxic T cells.
Not available
S-EPMC6565556 | biostudies-literature
UnknownA comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative.
Not available
S-EPMC6295275 | biostudies-literature
UnknownA Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
Not available
S-EPMC5223093 | biostudies-literature
UnknownExpanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.
Not available
S-EPMC6323608 | biostudies-literature
UnknownA toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing.
Not available
S-EPMC7385984 | biostudies-literature
Sort   by:  
 Page size