Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes
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Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome. - Abstract - Europe PMC
Frontiers Novel variants and phenotypic heterogeneity in a cohort of 11 Chinese children with Wiedemann-Steiner syndrome
Children, Free Full-Text
Locations of ID/DD-associated KMT2A mutations. 22 mutations in affected
Wiedemann-Steiner Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
Frontiers Novel variants and phenotypic heterogeneity in a cohort of 11 Chinese children with Wiedemann-Steiner syndrome
The epileptology of Wiedemann-Steiner syndrome: Electroclinical findings in five patients with KMT2A pathogenic variants - ScienceDirect
Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities
IJMS, Free Full-Text
The social phenotype associated with Wiedemann‐Steiner syndrome: Autistic traits juxtaposed with high social drive and prosociality - Ng - 2023 - American Journal of Medical Genetics Part A - Wiley Online Library
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