Human Molecular Genetics

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Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik
Human Molecular Genetics - Tập 13 Số 5 - Trang 535-542
Claudia E. Grubenmann
Normal telomere erosion rates at the single cell level in Werner syndrome fibroblast cells
Human Molecular Genetics - Tập 13 Số 14 - Trang 1515-1524
Duncan M. Baird
5-HT2A and 5-HT2C receptor polymorphisms and psychopathology in late onset Alzheimer's disease
Human Molecular Genetics - Tập 7 Số 9 - Trang 1507-1509 - 1998
Clive Holmes
A system biology perspective on environment–host–microbe interactions
Human Molecular Genetics - Tập 27 Số R2 - Trang R187-R194 - 2018
Lianmin Chen, Sanzhima Garmaeva, Alexandra Zhernakova, Jingyuan Fu, Cisca Wijmenga
Mutations in the canilicular multispecific organic anion transporter (cMOAT) gene, a novel ABC transporter, in patients with hyperbilirubinemia II/Dubin-Johnson syndrome
Human Molecular Genetics - Tập 7 Số 2 - Trang 203-207 - 1998
Morimasa Wada, Shoichi Toh, Ken Taniguchi, Takanori Nakamura, Takeshi Uchiumi, Kimitoshi Kohno, Ichiro Yoshida, Akihiko Kimura, Shotaro Sakisaka, Yukihiko Adachi, Michihiko Kuwano
Aminoglycoside-mediated rescue of a disease-causing nonsense mutation in the V2 vasopressin receptor gene in vitro and in vivo
Human Molecular Genetics - Tập 13 Số 9 - Trang 893-903 - 2004
Katrin Sangkuhl, Angela Schulz, Holger Römpler, June Yun, Jürgen Wess, Torsten Schöneberg
Mutant huntingtin directly increases susceptibility of mitochondria to the calcium-induced permeability transition and cytochrome c release
Human Molecular Genetics - Tập 13 Số 14 - Trang 1407-1420
Yeun Su Choo, Gail V.W. Johnson, Marcy E. MacDonald, Peter J. Detloff, Mathieu Lesort
Relapsing diabetes can result from moderately activating mutations in KCNJ11
Human Molecular Genetics - Tập 14 Số 7 - Trang 925-934 - 2005
Anna L. Gloyn, Frank Reimann, Christophe A. Girard, Emma L. Edghill, Peter Proks, Ewan R. Pearson, I. Karen Temple, Deborah Mackay, Julian Hamilton‐Shield, Debra Freedenberg, Kathryn Noyes, Sian Ellard, Frances M. Ashcroft, Fiona M. Gribble, Andrew T. Hattersley
A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis
Human Molecular Genetics - Tập 23 Số 8 - Trang 2220-2231 - 2014
Isabella Fogh, Antonia Ratti, Cinzia Gellera, K. Lin, John E. Landers, Valentina Escott‐Price, Lucia Corrado, Gianni Sorarù, Cristina Cereda, Stefania Corti, Davide Gentilini, Daniela Calini, Barbara Castellotti, Letizia Mazzini, Marka van Blitterswijk, Stella Gagliardi, Dongsheng Fan, F. L. Conforti, Gabriele Siciliano, Maurizio Inghilleri, Francesco Saccà, Paolo Bongioanni, Silvana Penco, Massimo Corbo, Sandro Sorbi, Massimiliano Filosto, Alessandra Ferlini, Anna Maria Di Blasio, Stefano Signorini, Aleksey Shatunov, Ashley Jones, Pamela J. Shaw, Karen Morrison, Anne Farmer, Philip Van Damme, Adriano Chiò, Bryan J. Traynor, Michael Sendtner, Judith Field, Vincent Meininger, Orla Hardiman, Peter M. Andersen, Nigel P. Leigh, Jonathan D. Glass, Daniel J. Overste, Frank P. Diekstra, Jan H. Veldink, Michael A. van Es, Christopher E. Shaw, Michael E. Weale, Cathryn M. Lewis, Julie Williams, Robert H. Brown, Nicola Ticozzi, Mauro Ceroni, Elena Pegoraro, Giacomo P. Comi, Sandra D’Alfonso, Leonard H. van den Berg, Franco Taroni, Ammar Al‐Chalabi, John Powell, Vincenzo Silani, Vincenzo Brescia Morra, Alessandro Filla, Massimo Falconi, Angela Marsili, Viviana Pensato, Giorgia Puorro, Vincenzo La Bella, Giancarlo Logroscino, Maria Sofia Cotelli, Aldo Quattrone, Isabella Laura Simone, Kreshnik Ahmeti, Senda Ajroud‐Driss, Jennifer A. Armstrong, Annachiara Cagnin, Hylke M. Blauw, Lucie Bruijn, W. Chen, Mary C. Comeau, Simon Cronin, Ghasemi Soraya, J. D. Grab, Emma J. Groen, Jonathan L. Haines, Sandra Heller, Jie Huang, W.-Y. Hung, ITALSGEN Consortium, James Jaworski, Humaira Majeed Khan, Carl D. Langefeld, Adam Adler, Russell L. McLaughlin, Jack W. Miller, Gabriele Mora, Margaret A. Pericak‐Vance, Evadnie Rampersaud, Nailah Siddique, Teepu Siddique, Benjamin N. Smith, Robert Sufit, Simon Topp, Caroline Vance, Paul van Vught, Yi Yang, Juefei Zheng
TTF-1 and RET promoter SNPs: regulation of RET transcription in Hirschsprung's disease
Human Molecular Genetics - Tập 14 Số 2 - Trang 191-204 - 2005
Mercè Garcia-Barceló, Raymond W. Ganster, Vincent Chi Hang Lui, Thomas Yuk-Yu Leon, Man‐Ting So, Anson M F Lau, Ming Fu, MH Sham, Jo Knight, M Zannini, Pak C. Sham, Paul Kwong‐Hang Tam
Tổng số: 466   
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