Human Mutation

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Reassessment of theTP53 mutation database in human disease by data mining with a library ofTP53 missense mutations
Human Mutation - Tập 25 Số 1 - Trang 6-17 - 2005
Thierry Soussi, Shunsuke Kato, Pierre Lévy, Chikashi Ishioka
Dilated cardiomyopathy-associatedBAG3mutations impair Z-disc assembly and enhance sensitivity to apoptosis in cardiomyocytes
Human Mutation - Tập 32 Số 12 - Trang 1481-1491 - 2011
Takuro Arimura, Taisuke Ishikawa, Shinichi Nunoda, Sachio Kawai, Akinori Kimura
Functional Characterization and Classification of Frequent Low-Density Lipoprotein Receptor Variants
Human Mutation - Tập 36 Số 1 - Trang 129-141 - 2015
Aitor Etxebarria, Asier Benito‐Vicente, Lourdes Palacios, Marianne Stef, Ana Cenarro, Fernando Civeira, Helena Ostolaza, César Martı́n
SNPs, protein structure, and disease
Human Mutation - Tập 17 Số 4 - Trang 263-270 - 2001
Zhen Wang, John Moult
KCNJ11activating mutations in Italian patients with permanent neonatal diabetes
Human Mutation - Tập 25 Số 1 - Trang 22-27 - 2005
Ornella Massa, Dario Iafusco, Elena D’Amato, Anna L. Gloyn, Andrew T. Hattersley, B Pasquino, Giuseppe Tonini, F Dammacco, Giorgio Zanette, Franco Meschi, Ottavia Porzio, G F Bottazzo, Antonino Crinò, Renata Lorini, Fránco Cerutti, Maurizio Vanelli, Fabrizio Barbetti
Maternal MTHFR variant forms increase the risk in offspring of isolated nonsyndromic cleft lip with or without cleft palate
Human Mutation - Tập 24 Số 1 - Trang 104-105 - 2004
Furio Pezzetti, Marcella Martinelli, Luca Scapoli, Francesco Carinci, Annalisa Palmieri, Jlenia Marchesini, Maria Bodo, Elisabetta Caramelli, R Rullo, F Gombos, Mauro Tognon
Molecular basis of recessive congenital methemoglobinemia, types I and II: Exon skipping and three novel missense mutations in the NADH-cytochrome b5 reductase (diaphorase 1) gene
Human Mutation - Tập 17 Số 4 - Trang 348-348 - 2001
Wilfried Kugler, Arnulf Pekrun, Petra Laspe, Bernhard Erdlenbruch, M. Lakomek
Familial conformational diseases and dementias
Human Mutation - Tập 20 Số 1 - Trang 1-14 - 2002
Damian C. Crowther
A common haplotype at the 5′ end of theRETproto‐oncogene, overrepresented in Hirschsprung patients, is associated with reduced gene expression
Human Mutation - Tập 25 Số 2 - Trang 189-195 - 2005
Paola Griseri, Tiziana Bachetti, Francesca Puppo, Francesca Lantieri, Roberto Ravazzolo, Marcella Devoto, Isabella Ceccherini
Single nucleotide polymorphisms in CEL‐HYB1 increase risk for chronic pancreatitis through proteotoxic misfolding
Human Mutation - Tập 41 Số 11 - Trang 1967-1978 - 2020
Brett M. Cassidy, Sammy Zino, Karianne Fjeld, Anders Molven, Mark E. Lowe, Xunjun Xiao
Tổng số: 108   
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