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UnknownThe Emerging Role of Gβ Subunits in Human Genetic Diseases.
Not available
S-EPMC6952978 | biostudies-literature
UnknownA NGS-Targeted Autism/ID Panel Reveals Compound Heterozygous GNB5 Variants in a Novel Patient.
Not available
S-EPMC6315145 | biostudies-literature
UnknownA New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case.
Not available
S-EPMC5423807 | biostudies-literature
UnknownEarly Antibody Dynamics in a Prospective Cohort of Children At Risk of Celiac Disease.
Not available
S-EPMC9992331 | biostudies-literature
UnknownLoss of Function of the Gene Encoding the Histone Methyltransferase KMT2D Leads to Deregulation of Mitochondrial Respiration.
Not available
S-EPMC7407568 | biostudies-literature
UnknownA Genome-Wide Association Study of First-Episode Psychosis: A Genetic Exploration in an Italian Cohort
Not available
S-EPMC12026730 | biostudies-literature
UnknownClinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature.
Not available
S-EPMC5796032 | biostudies-literature
UnknownDosage analysis of the 7q11.23 Williams region identifies BAZ1B as a major human gene patterning the modern human face and underlying self-domestication.
Not available
S-EPMC6892627 | biostudies-literature
UnknownImmune escape of multiple myeloma cells results from low miR29b and the ensuing epigenetic silencing of proteasome genes.
Not available
S-EPMC11040965 | biostudies-literature
UnknownDissecting KMT2D missense mutations in Kabuki syndrome patients.
Not available
S-EPMC6488975 | biostudies-literature
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