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
The Caenorhabditis elegans homolog of FGD1, the human Cdc42 GEF gene responsible for faciogenital dysplasia, is critical for excretory cell morphogenesis
Human Molecular Genetics - Tập 10 Số 26 - Trang 3049-3062 - 2001
Jian Gao, Lourdes Estrada, Soochin Cho, Ronald Ellis, Jerome L. Gorski
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
BRCA1 mRNA expression levels as an indicator of chemoresistance in lung cancer
Human Molecular Genetics - Tập 13 Số 20 - Trang 2443-2449 - 2004
Miquel Tarón, Rafael Rosell, Enriqueta Felip, Pedro Méndez, John Souglakos, M. Sánchez Ronco, Cristina Queralt, Joaquim Majó Fernández, José Miguel Sánchez, José Javier Sánchez, J Maestre
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
Tổng số: 466   
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