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American Journal of Medical Genetics. Part A|March 22, 2021
R3HDM1 haploinsufficiency is associated with mild intellectual disabilityDaisuke Fukushi, Mie Inaba, Kimiko Katoh, et al.European Journal of Medical Genetics|November 9, 2023
Pathogenicity evaluation of variants of uncertain significance at exon-intron junction by splicing assay in patients with Mowat-Wilson syndromeYasuyo Suzuki, Noriko Nomura, Kenichiro Yamada, et al.Brain & Development|May 13, 2018
Distinctive facies, macrocephaly, and developmental delay are signs of a PTEN mutation in childhoodKohji Kato, Seiji Mizuno, Mie Inaba, et al.Journal of Neuropathology and Experimental Neurology|October 10, 2009
A novel Caspr mutation causes the shambling mouse phenotype by disrupting axoglial interactions of myelinated nervesXiao-yang Sun, Yoshiko Takagishi, Erina Okabe, et al.Orphanet Journal of Rare Diseases|June 17, 2020
Mowat-Wilson syndrome: growth chartsIvan Ivanovski, Olivera Djuric, Serena Broccoli, et al.Pageof 2