Αποτελέσματα αναζήτησης - Jonathan D. J. Labonne
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Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort από Kyungsoo Ha, Priya Anand, Jennifer A. Lee, Julie R. Jones, Chong Ae Kim, Débora Romeo Bertola, Jonathan D. J. Labonne, Lawrence C. Layman, Wolfgang Wenzel, Hyung‐Goo Kim
Έκδοση 2016Artigo -
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Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism από Hyung‐Goo Kim, Jill A. Rosenfeld, Daryl A. Scott, Gerard Bénédicte, Jonathan D. J. Labonne, Jason Brown, Marianne McGuire, Sonal Mahida, Sakkubai Naidu, Jacqueline Gutierrez, Gaëtan Lesca, Vincent des Portes, Ange-Line Bruel, Arthur Sorlin, Fan Xia, Yline Capri, Eric Muller, Dianalee McKnight, Erin Torti, Franz Rüschendorf, Oliver Hummel, Zeyaul Islam, Prasanna R. Kolatkar, Lawrence C. Layman, Duchwan Ryu, Il‐Keun Kong, Suneeta Madan‐Khetarpal, Cheol‐Hee Kim
Έκδοση 2019Artigo
Εργαλεία αναζήτησης:
Σχετικά θέματα
Biology
Genetics
Gene
Allele
Autism
Autism spectrum disorder
Bioinformatics
Chemistry
Computational biology
Computer science
Domain (mathematical analysis)
Epilepsy
Exome
Exome sequencing
Genome
Haploinsufficiency
Haplotype
Human genetics
Hypotonia
Intellectual disability
Locus (genetics)
Loss function
Mathematical analysis
Mathematics
Medicine
Missense mutation
Mutant
Mutation
Neuroscience
Nonsense mutation