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Human mutation

Showing results (1731-1740 of 5,734) with videos related to

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Human Mutation|April 21, 2022
uORF-introducing variants in the 5'UTR of the NIPBL gene as a cause of Cornelia de Lange syndromeJuliette Coursimault, Anne Rovelet-Lecrux, Kévin Cassinari, et al.
Human Mutation|June 18, 2019
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenitaSuzanna G M Frints, Friederike Hennig, Roberto Colombo, et al.
Human Mutation|June 19, 2019
Homozygous loss-of-function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomaliesJehan Suleiman, Korbinian M Riedhammer, Timothy Jicinsky, et al.
Human Mutation|June 30, 2019
Molecular diagnostic workflow, clinical interpretation of sequence variants, and data repository procedures in 140 individuals with familial cerebral cavernous malformationsCarmela Fusco, Massimiliano Copetti, Tommaso Mazza, et al.
Human Mutation|July 9, 2019
Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 diseaseEmily Gardner, Mitch Bailey, Angela Schulz, et al.
Human Mutation|July 9, 2019
VIPdb, a genetic Variant Impact Predictor DatabaseZhiqiang Hu, Changhua Yu, Mabel Furutsuki, et al.
Human Mutation|July 9, 2019
Rs2262251 in lncRNA RP11-462G12.2 is associated with nonsyndromic cleft lip with/without cleft palateLu Yun, Lan Ma, Meilin Wang, et al.
Human Mutation|June 27, 2019
Assessing the performance of in silico methods for predicting the pathogenicity of variants in the gene CHEK2, among Hispanic females with breast cancerAlin Voskanian, Panagiotis Katsonis, Olivier Lichtarge, et al.
Human Mutation|July 2, 2019
Performance of computational methods for the evaluation of pericentriolar material 1 missense variants in CAGI-5Alexander Miguel Monzon, Marco Carraro, Luigi Chiricosta, et al.
Human Mutation|October 10, 2019
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1Magdalena Koczkowska, Tom Callens, Yunjia Chen, et al.
Pageof 574

Showing results (1731-1740 of 5,734) with videos related to

Sort By:
Pageof 574
Human Mutation|April 21, 2022
uORF-introducing variants in the 5'UTR of the NIPBL gene as a cause of Cornelia de Lange syndromeJuliette Coursimault, Anne Rovelet-Lecrux, Kévin Cassinari, et al.
Human Mutation|June 18, 2019
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenitaSuzanna G M Frints, Friederike Hennig, Roberto Colombo, et al.
Human Mutation|June 19, 2019
Homozygous loss-of-function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomaliesJehan Suleiman, Korbinian M Riedhammer, Timothy Jicinsky, et al.
Human Mutation|June 30, 2019
Molecular diagnostic workflow, clinical interpretation of sequence variants, and data repository procedures in 140 individuals with familial cerebral cavernous malformationsCarmela Fusco, Massimiliano Copetti, Tommaso Mazza, et al.
Human Mutation|July 9, 2019
Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 diseaseEmily Gardner, Mitch Bailey, Angela Schulz, et al.
Human Mutation|July 9, 2019
VIPdb, a genetic Variant Impact Predictor DatabaseZhiqiang Hu, Changhua Yu, Mabel Furutsuki, et al.
Human Mutation|July 9, 2019
Rs2262251 in lncRNA RP11-462G12.2 is associated with nonsyndromic cleft lip with/without cleft palateLu Yun, Lan Ma, Meilin Wang, et al.
Human Mutation|June 27, 2019
Assessing the performance of in silico methods for predicting the pathogenicity of variants in the gene CHEK2, among Hispanic females with breast cancerAlin Voskanian, Panagiotis Katsonis, Olivier Lichtarge, et al.
Human Mutation|July 2, 2019
Performance of computational methods for the evaluation of pericentriolar material 1 missense variants in CAGI-5Alexander Miguel Monzon, Marco Carraro, Luigi Chiricosta, et al.
Human Mutation|October 10, 2019
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1Magdalena Koczkowska, Tom Callens, Yunjia Chen, et al.
Pageof 574