Human Mutation

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Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) Causes a Novel Congenital Disorder of Glycosylation Type Ij
Human Mutation - Tập 22 Số 2 - Trang 144-150 - 2003
Xiao‐Hua Wu, Jeffrey S. Rush, Denise Karaoglu, Donna M. Krasnewich, Mark Lubinsky, Charles J. Waechter, Reid Gilmore, Hudson H. Freeze
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
Oncotator: Cancer Variant Annotation Tool
Human Mutation - Tập 36 Số 4 - Trang E2423-E2429 - 2015
Alex H. Ramos, Lee Lichtenstein, Manaswi Gupta, Michael S. Lawrence, Trevor J. Pugh, Gordon Saksena, Matthew Meyerson, Gad Getz
Ten novel mutations inVMD2associated with Best macular dystrophy (BMD)
Human Mutation - Tập 22 Số 5 - Trang 418-418 - 2003
Franziska Krämer, Nicole Mohr, Ulrich Kellner, Günther Rudolph, Bernhard H. F. Weber
Functional characterization of splicing and ligand-binding domain variants in the LDL receptor
Human Mutation - Tập 33 Số 1 - Trang 232-243 - 2012
Aitor Etxebarria, Lourdes Palacios, Marianne Stef, Diego Tejedor, Kepa B. Uribe, Amalia Oleaga, Luis Irigoyen, Beatriz Torres, Helena Ostolaza, César Martı́n
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
Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10
Human Mutation - Tập 32 Số 1 - Trang 51-58 - 2011
Karin Frank‐Raue, Lisa Rybicki, Zoran Erlic, Heiko Schweizer, Aurelia Winter, Ioana Milos, S. P. A. Toledo, Rodrigo A. Toledo, Marcos Roberto Tavares, Maria Alevizaki, Caterina Mian, Heide Siggelkow, M. Hüfner, Nelson Wohllk, Giuseppe Opocher, Šárka Dvořáková, Běla Bendlová, Małgorzata Czetwertyńska, E. Skasko, Marta Barontini, Gabriela Sansó, Christian Vorländer, Ana Luiza Maia, Attila Patócs, Thera P. Links, Jan Willem de Groot, Michiel N. Kerstens, Gerlof D. Valk, Hamid Irannejad, Thomas J. Musholt, Josefina Biarnés, Svetozar Damjanović, Mihaela Mureşan, Christian Wüster, Martin Faßnacht, Mariola Pęczkowska, Christine Fauth, Henriette Golcher, Martin A. Walter, J Pichl, Friedhelm Raue, Charis Eng, Hartmut P.H. Neumann
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
Tổng số: 108   
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