Human Molecular Genetics

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ATM: from gene to function
Human Molecular Genetics - Tập 7 Số 10 - Trang 1555-1563 - 1998
Galit Rotman
Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness
Human Molecular Genetics - Tập 21 Số 17 - Trang 3835-3844 - 2012
Sedigheh Delmaghani, Asadollah Aghaie, Nicolas Michalski, Crystel Bonnet, Dominique Weil, Christine Petit
A Novel Imprinted Gene, Encoding a RING Zinc-Finger Protein, and Overlapping Antisense Transcript in the Prader-Willi Syndrome Critical Region
Human Molecular Genetics - Tập 8 Số 5 - Trang 783-793 - 1999
M T Jong, Todd A. Gray, Yazhong Ji, Christopher C. Glenn, Shinji Saitoh, Daniel J. Driscoll, Robert D. Nicholls
RBFOX1 regulates both splicing and transcriptional networks in human neuronal development
Human Molecular Genetics - Tập 21 Số 19 - Trang 4171-4186 - 2012
Brent L. Fogel, Eric Wexler, Amanda Wahnich, Tara Friedrich, Vijayendran Chandran, Fuying Gao, Neelroop Parikshak, Geneviève Konopka, Daniel H. Geschwind
Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels
Human Molecular Genetics - Tập 20 Số 5 - Trang 1042-1047 - 2011
Konrad Oexle, Janina S. Ried, Andrew A. Hicks, Toshiko Tanaka, Caroline Hayward, Mathias Bruegel, Martin Gögele, Peter Lichtner, Bertram Müller‐Myhsok, Angela Döring, Thomas Illig, Christine Schwienbacher, Cosetta Minelli, Irene Pichler, Martin Fiedler, Joachim Thiery, Igor Rudan, Alan F. Wright, Harry Campbell, Luigi Ferrucci, Stefania Bandinelli, Peter P. Pramstaller, H.‐Erich Wichmann, Christian Gieger, Juliane Winkelmann, Thomas Meitinger
Evaluation of genome-wide loci of iron metabolism in hereditary hemochromatosis identifies PCSK7 as a host risk factor of liver cirrhosis
Human Molecular Genetics - Tập 23 Số 14 - Trang 3883-3890 - 2014
Felix Stickel, Stephan Buch, Heinz Zoller, R. Hultcrantz, Sabina Gallati, C.H. Österreicher, Armin Finkenstedt, Andreas Stadlmayr, Elmar Aigner, Enijad Sahinbegovic, Christoph Sarrazin, Clemens Schafmayer, Felix Braun, Wiebke Erhart, Michael Nothnagel, Markus M. Lerch, Julia Mayerle, Henry Völzke, André Schaller, Wolfgang Kratzer, Bernhard O. Boehm, Bence Sipos, Mauro DʼAmato, Leif Törkvist, Per Stål, Alexander Arlt, André Franke, Thomas Becker, Michael Krawczak, Jochen Zwerina, Thomas Berg, Holger Hinrichsen, Elisabeth Krones, Christian Dejaco, Michael Straßer, Christian Datz, Jochen Hampe
Intra-renal and subcellular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent's disease
Human Molecular Genetics - Tập 8 Số 2 - Trang 247-257 - 1999
Olivier Devuyst
Identification of a novel lipase gene mutated in lpd mice with hypertriglyceridemia and associated with dyslipidemia in humans
Human Molecular Genetics - Tập 12 Số 10 - Trang 1131-1143 - 2003
Xiao‐Yan Wen, Robert A. Hegele, Jian Wang, Ding Yan Wang, Joseph Cheung, Michael D. Wilson, Maryam Yahyapour, Yahong Bai, Lihua Zhuang, Jennifer Skaug, T. Kue Young, Philip W. Connelly, Ben F. Koop, Lap‐Chee Tsui, A. Keith Stewart
TBK1 controls autophagosomal engulfment of polyubiquitinated mitochondria through p62/SQSTM1 phosphorylation
Human Molecular Genetics - Tập 24 Số 15 - Trang 4429-4442 - 2015
Gen Matsumoto, Tomomi Shimogori, Nobutaka Hattori, Nobuyuki Nukina
Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein
Human Molecular Genetics - Tập 2 Số 12 - Trang 2109-2116 - 1993
Carol C. Shoulders, David Brett, Jayne D. Bayllss, Teresa M.E. Narcisi, Adam Jarmuz, Tamsin T. Grantham, Patricia R.D. Leoni, Shoumo Bhattacharya, Richard J. Pease, Paul Cullen, S Levi, PETER G. H. BYFIELD, P. Purkiss, James Scott
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