Sort   by:  
 Page size 
UnknownAge-Related Changes in the Nasopharyngeal Microbiome Are Associated With Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Infection and Symptoms Among Children, Adolescents, and Young Adults.
Not available
S-EPMC8903463 | biostudies-literature
UnknownBiallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
Not available
S-EPMC7447524 | biostudies-literature
UnknownSPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.
Not available
S-EPMC10319774 | 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
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
Sort   by:  
 Page size