Sort   by:  
 Page size 
UnknownPhenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Not available
S-EPMC8488020 | biostudies-literature
UnknownThe genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
Not available
S-EPMC5307971 | biostudies-literature
UnknownA novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder.
Not available
S-EPMC9426662 | biostudies-literature
UnknownAn autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
Not available
S-EPMC8026396 | biostudies-literature
UnknownEndocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.
Not available
S-EPMC9586540 | 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
UnknownDYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature.
Not available
S-EPMC7767569 | biostudies-literature
UnknownFamily genetic result communication in rare and undiagnosed disease communities: Understanding the practice.
Not available
S-EPMC8207526 | biostudies-literature
UnknownClinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples.
Not available
S-EPMC8664895 | biostudies-literature
UnknownClinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science.
Not available
S-EPMC7867619 | biostudies-literature
Sort   by:  
 Page size