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UnknownSPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.
Not available
S-EPMC10319774 | biostudies-literature
UnknownDe novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.
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S-EPMC7118694 | biostudies-literature
UnknownClinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science.
Not available
S-EPMC7867619 | biostudies-literature
UnknownVariation in global trauma care: a survey of 187 hospitals across 51 countries.
Not available
S-EPMC12598983 | biostudies-literature
UnknownProgressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum.
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S-EPMC8222855 | biostudies-literature
UnknownDYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature.
Not available
S-EPMC7767569 | biostudies-literature
UnknownClinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples.
Not available
S-EPMC8664895 | biostudies-literature
UnknownFamily genetic result communication in rare and undiagnosed disease communities: Understanding the practice.
Not available
S-EPMC8207526 | biostudies-literature
UnknownBiallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy.
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S-EPMC10506156 | biostudies-literature
UnknownVarSight: prioritizing clinically reported variants with binary classification algorithms.
Not available
S-EPMC6792253 | biostudies-literature
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