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UnknownContinuing a search for a diagnosis: the impact of adolescence and family dynamics.
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S-EPMC9830697 | biostudies-literature
UnknownDYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature.
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S-EPMC7767569 | biostudies-literature
UnknownFamily genetic result communication in rare and undiagnosed disease communities: Understanding the practice.
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S-EPMC8207526 | 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
UnknownMacrocephaly and developmental delay caused by missense variants in RAB5C.
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S-EPMC10586195 | 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
UnknownSPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.
Not available
S-EPMC10319774 | biostudies-literature
UnknownClinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science.
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S-EPMC7867619 | biostudies-literature
UnknownDetection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey.
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S-EPMC8372083 | biostudies-literature
UnknownHeterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11.
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S-EPMC8487929 | biostudies-literature
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