European Journal of Human Genetics

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Kernel canonical correlation analysis for assessing gene–gene interactions and application to ovarian cancer
European Journal of Human Genetics - Tập 22 Số 1 - Trang 126-131 - 2014
Nicholas B. Larson, Gregory D. Jenkins, Melissa C. Larson, Robert A. Vierkant, Thomas A. Sellers, Catherine M. Phelan, Joellen M. Schildkraut, Rebecca Sutphen, Paul D.P. Pharoah, Simon A. Gayther, Ellen L. Goode, Brooke L. Fridley
Epigenetic regulation of the X-chromosomal macrosatellite repeat encoding for the cancer/testis gene CT47
European Journal of Human Genetics - Tập 20 Số 2 - Trang 185-191 - 2012
Judit Balog, Daniel G. Miller, Elena Sanchez-Curtailles, Josep Maria Casasa i Carbo, Gregory J. Block, Marco Potman, Peter de Knijff, R. Lemmers, Stephen J. Tapscott, Silvère M. van der Maarel
Mortality in neurofibromatosis 1: in North West England: an assessment of actuarial survival in a region of the UK since 1989
European Journal of Human Genetics - Tập 19 Số 11 - Trang 1187-1191 - 2011
D. Gareth Evans, Catherine O’Hara, Anna Wilding, Sarah Ingham, Elizabeth Howard, John Dawson, Anthony Moran, Vilka Scott-Kitching, Felicity Holt, Susan Huson
EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
European Journal of Human Genetics - Tập 28 Số 10 - Trang 1341-1367 - 2020
Sabina Baumgartner‐Parzer, Martina Witsch‐Baumgartner, Wolfgang Hoeppner
AbstractMolecular genetic testing for congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is offered worldwide and is of importance for differential diagnosis, carrier detection and adequate genetic counseling, particularly for family planning. In 2008 the European Molecular Genetics Quality Network (EMQN) for the first time offered a Eur...... hiện toàn bộ
DNA methylation profiling of human placentas reveals promoter hypomethylation of multiple genes in early-onset preeclampsia
European Journal of Human Genetics - Tập 18 Số 9 - Trang 1006-1012 - 2010
Ryan K. C. Yuen, Maria S. Peñaherrera, Peter von Dadelszen, Deborah E. McFadden, Wendy P. Robinson
Preferences for prenatal tests for Down syndrome: an international comparison of the views of pregnant women and health professionals
European Journal of Human Genetics - Tập 24 Số 7 - Trang 968-975 - 2016
Melissa Hill, Jo-Ann Johnson, Sylvie Langlois, Hyun Lee, Stephanie Winsor, Brigid Dineley, Marisa Horniachek, Faustina Lalatta, Luisa Ronzoni, Angela N. Barrett, Henna V. Advani, Mahesh Choolani, Ron Rabinowitz, Eva Pajkrt, Rachèl V. van Schendel, Lidewij Henneman, Wieke Rommers, Caterina M. Bilardo, Paula Rendeiro, Maria João Rodrigues Ferreira Ribeiro, José Rocha, Ida Charlotte Bay Lund, O. B. Petersen, Naja Becher, Ida Vogel, Vigdís Stefánsdóttir, Sigrún Ingvarsdóttir, Helga Gottfreðsdóttir, Stephen Morris, Lyn S. Chitty
Linkage and mutational analysis of familial thyroid dysgenesis demonstrate genetic heterogeneity implicating novel genes
European Journal of Human Genetics - Tập 13 Số 2 - Trang 232-239 - 2005
Mireille Castanet, Sylvia Sura‐Trueba, Anne Chauty, Aurore Carré, Nicolás de Roux, Simon Heath, Juliane Léger, Stanislas Lyonnet, Paul Czernichow, Michel Polak
Comparison of Single-Strand Conformation Polymorphism and Heteroduplex Analysis for Detection of Mutations in Charcot-Marie-Tooth Type 1 Disease and Related Peripheral Neuropathies
European Journal of Human Genetics - Tập 4 Số 6 - Trang 329-333 - 1996
Eva Neils, Laura E. Warner, Phillip F. Chance, J.R. Lupski, Christine Van Broeckhoven
Familial deletion within NLGN4 associated with autism and Tourette syndrome
European Journal of Human Genetics - Tập 16 Số 5 - Trang 614-618 - 2008
Amy Lawson‐Yuen, Juan‐Sebastian Saldivar, Steve S. Sommer, Jonathan Picker
Deletion and duplication screening in the DMD gene using MLPA
European Journal of Human Genetics - Tập 13 Số 11 - Trang 1231-1234 - 2005
Tanja Lalic, Rolf H. A. M. Vossen, Jordy Coffa, Jan P. Schouten, Marija Guć‐Šćekić, D Radivojević, M Djurisić, M H Breuning, Stefan J. White, Johan T. den Dunnen
Tổng số: 65   
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