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UnknownBICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.
Not available
S-EPMC7820627 | 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
UnknownAdvancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network.
Not available
S-EPMC11698638 | biostudies-literature
UnknownContinuing a search for a diagnosis: the impact of adolescence and family dynamics.
Not available
S-EPMC9830697 | 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
UnknownDe Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.
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S-EPMC6817525 | biostudies-literature
UnknownClinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples.
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S-EPMC8664895 | biostudies-literature
UnknownBiallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Not available
S-EPMC10932913 | biostudies-literature
UnknownDYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature.
Not available
S-EPMC7767569 | biostudies-literature
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