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Showing results for ISSN matching 1018-4813

DNA Diagnostics of the Marfan Syndrome: Application of Amplifîable Polymorphie Markers

JOURNAL ARTICLE published 1994 in European Journal of Human Genetics

Authors: T. Rantamäki | L. Lönnqvist | L. Karttunen | K. Kainulainen | L. Peltonen

https://doi.org/10.1159/000472343 Actions

Genetic Services in Belgium

JOURNAL ARTICLE published 1997 in European Journal of Human Genetics

Authors: J.-J. Cassiman

https://doi.org/10.1159/000484833 Actions

Contents Vol. 4, 1996

JOURNAL ARTICLE published 1996 in European Journal of Human Genetics

https://doi.org/10.1159/000472236 Actions

Audit of Maternal Serum Screening: Strategies to Augment Counselling in Response to Women's Views

JOURNAL ARTICLE published 1996 in European Journal of Human Genetics

Authors: J. Burn | S. Fairgrieve | P. Franks | I. White | D. Magnay

https://doi.org/10.1159/000472179 Actions

Exome sequencing in individuals with cardiovascular laterality defects identifies potential candidate genes

JOURNAL ARTICLE published August 2022 in European Journal of Human Genetics

Authors: Katinka Breuer | Korbinian M. Riedhammer | Nicole Müller | Birthe Schaidinger | Gregor Dombrowsky | Sven Dittrich | Susanne Zeidler | Ulrike M. M. Bauer | Dominik S. Westphal | Thomas Meitinger | Tikam Chand Dakal | Marc-Phillip Hitz | Johannes Breuer | Heiko Reutter | Alina C. Hilger | Julia Hoefele

https://doi.org/10.1038/s41431-022-01100-2 Actions

Phylogenetic history of patrilineages rare in northern and eastern Europe from large-scale re-sequencing of human Y-chromosomes

JOURNAL ARTICLE published October 2021 in European Journal of Human Genetics

Research funded by Eesti Teadusagentuur (PRG243,PRG243,PRG243,PRG1071,PRG243,PRG1071) | Suomalainen Tiedeakatemia (329257) | U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (3UM1HG008901-03S1) | Haridus- ja Teadusministeerium (IUT24-1) | EC | European Regional Development Fund (2014-2020.4.01.16-0024 (MOBTT53),2014-2020.4.01.16-0024 (MOBTT53))

Authors: Anne-Mai Ilumäe | Helen Post | Rodrigo Flores | Monika Karmin | Hovhannes Sahakyan | Mayukh Mondal | Francesco Montinaro | Lauri Saag | Concetta Bormans | Luisa Fernanda Sanchez | Adam Ameur | Ulf Gyllensten | Mart Kals | Reedik Mägi | Luca Pagani | Doron M. Behar | Siiri Rootsi | Richard Villems

https://doi.org/10.1038/s41431-021-00897-8 Actions

Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia

JOURNAL ARTICLE published February 2007 in European Journal of Human Genetics

Authors: Andreas Zankl | Gail C Jackson | Laureane Mittaz Crettol | Jacky Taylor | Rob Elles | Geert R Mortier | Jurgen Spranger | Bernhard Zabel | Sheila Unger | Martine Le Merrer | Valerie Cormier-Daire | Christine M Hall | Michael J Wright | Luisa Bonafe | Andrea Superti-Furga | Michael D Briggs

https://doi.org/10.1038/sj.ejhg.5201744 Actions

Sharing of a conserved haplotype suggests a susceptibility gene for multiple sclerosis at chromosome 17p11

JOURNAL ARTICLE published April 2002 in European Journal of Human Genetics

Authors: Bing He | Vilmantas Giedraitis | Arturs Ligers | Michael Binzer | Peter M Andersen | Lars Forsgren | Lodewijk A Sandkuijl | Jan Hillert

https://doi.org/10.1038/sj.ejhg.5200802 Actions

Gene mapping: Balance among quality, quantity and cost of data in the era of whole-genome mapping for complex disease

JOURNAL ARTICLE published November 2006 in European Journal of Human Genetics

Authors: Derek Gordon

https://doi.org/10.1038/sj.ejhg.5201693 Actions

Cystathionine β-synthase polymorphisms and hyperhomocysteinaemia: an association study

JOURNAL ARTICLE published January 2003 in European Journal of Human Genetics

Authors: Karin J A Lievers | Leo A J Kluijtmans | Sandra G Heil | Godfried H J Boers | Petra Verhoef | Martin den Heijer | Frans J M Trijbels | Henk J Blom

https://doi.org/10.1038/sj.ejhg.5200899 Actions

Use of a modeling framework to evaluate the effect of a modifier gene (MBL2) on variation in cystic fibrosis

JOURNAL ARTICLE published June 2010 in European Journal of Human Genetics

Authors: Kathryn E McDougal | Deanna M Green | Lori L Vanscoy | M Daniele Fallin | Michael Grow | Suzanne Cheng | Scott M Blackman | J Michael Collaco | Lindsay B Henderson | Kathleen Naughton | Garry R Cutting

https://doi.org/10.1038/ejhg.2009.226 Actions

Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation

JOURNAL ARTICLE published November 2013 in European Journal of Human Genetics

Authors: Cristina Dias | Allison McDonald | Murat Sincan | Rosemarie Rupps | Thomas Markello | Ramona Salvarinova | Rui F Santos | Kamal Menghrajani | Chidi Ahaghotu | Darren P Sutherland | Edgardo S Fortuno | Tobias R Kollmann | Michelle Demos | Jan M Friedman | David P Speert | William A Gahl | Cornelius F Boerkoel

https://doi.org/10.1038/ejhg.2013.20 Actions

Exploring genotype–phenotype correlations in CREBBP: comment on the literature and description of an additional patient with an atypical outcome

JOURNAL ARTICLE published September 2023 in European Journal of Human Genetics

Authors: Krista M. Vincent | Gail E. Graham

https://doi.org/10.1038/s41431-023-01385-x Actions

Two candidate genes for low platelet count identified in an Asian Indian kindred by genome-wide linkage analysis: glycoprotein IX and thrombopoietin

JOURNAL ARTICLE published January 2006 in European Journal of Human Genetics

Authors: Chad Garner | Steve Best | Stephan Menzel | Helen Rooks | Tim D Spector | Swee Lay Thein

https://doi.org/10.1038/sj.ejhg.5201499 Actions

Isochromosome 21q is overrepresented among false-negative cell-free DNA prenatal screening results involving Down syndrome

JOURNAL ARTICLE published October 2018 in European Journal of Human Genetics

Authors: Karin Huijsdens-van Amsterdam | Lieve Page-Christiaens | Nicola Flowers | Michael D Bonifacio | Katie M Battese Ellis | Ida Vogel | Else Marie Vestergaard | Javier Miguelez | Mario Henrique Burlacchini de Carvalho | Erik A Sistermans | Mark D Pertile

https://doi.org/10.1038/s41431-018-0188-1 Actions

Y chromosome analysis reveals a sharp genetic boundary in the Carpathian region

JOURNAL ARTICLE published January 2001 in European Journal of Human Genetics

Authors: Mihaela Stefan | Gheorge Stefanescu | Lucian Gavrila | Luciano Terrenato | MarkA Jobling | Patrizia Malaspina | Andrea Novelletto

https://doi.org/10.1038/sj.ejhg.5200580 Actions

Inverse PCR to perform long-distance haplotyping: main applications to improve preimplantation genetic diagnosis in hemophilia

JOURNAL ARTICLE published April 2019 in European Journal of Human Genetics

Authors: Miguel Martín Abelleyro | Vanina Daniela Marchione | Micaela Palmitelli | Claudia Pamela Radic | Daniela Neme | Irene Beatriz Larripa | Enrique Medina-Acosta | Carlos Daniel De Brasi | Liliana Carmen Rossetti

https://doi.org/10.1038/s41431-018-0334-9 Actions

Germline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities: a meta-analysis

JOURNAL ARTICLE published August 2018 in European Journal of Human Genetics

Authors: Till Holsten | Susanne Bens | Florian Oyen | Karolina Nemes | Martin Hasselblatt | Uwe Kordes | Reiner Siebert | Michael C. Frühwald | Reinhard Schneppenheim | Ulrich Schüller

https://doi.org/10.1038/s41431-018-0143-1 Actions

Failure to detect an 8p22–8p23.1 duplication in patients with Kabuki (Niikawa–Kuroki) syndrome

JOURNAL ARTICLE published May 2005 in European Journal of Human Genetics

Authors: Damien Sanlaville | David Genevieve | Céline Bernardin | Jeanne Amiel | Clarisse Baumann | Marie-Christine de Blois | Valérie Cormier-Daire | Bénédicte Gerard | Marion Gerard | Martine Le Merrer | Philippe Parent | Fabienne Prieur | Marguerite Prieur | Odile Raoul | Annick Toutain | Alain Verloes | Géraldine Viot | Serge Romana | Arnold Munnich | Stanislas Lyonnet | Michel Vekemans | Catherine Turleau

https://doi.org/10.1038/sj.ejhg.5201383 Actions

Trends in genetic patent applications: the commercialization of academic intellectual property

JOURNAL ARTICLE published October 2014 in European Journal of Human Genetics

Authors: Jannigje G Kers | Elco Van Burg | Tom Stoop | Martina C Cornel

https://doi.org/10.1038/ejhg.2013.305 Actions
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