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Detection of Homozygosity by Descent

JOURNAL ARTICLE published 1995 in European Journal of Human Genetics

Authors: Jean-François Foncin | Amalia Cecilia Bruni | Maria Paola Montesi

https://doi.org/10.1159/000472296 Actions

Announcement

JOURNAL ARTICLE published 1994 in European Journal of Human Genetics

Authors: C.D. DeLozier-Blanchet | L.O. Vejerslev

https://doi.org/10.1159/000472344 Actions

Deletion of 11 Amino Acids in Tuberin Associated with Severe Tuberous Sclerosis Phenotypes: Evidence for a New Essential Domain in the First Third of the Protein

JOURNAL ARTICLE published 1997 in European Journal of Human Genetics

Authors: Séverin Jobert | Elisabeth Bragado-Nilsson | Danielle Samolyk | Jean-Michel Pedespan | Cécile Marchal | Sophie Reichert | Jacques Mallet | Gilles Pitiot

https://doi.org/10.1159/000484778 Actions

Announcements

JOURNAL ARTICLE published 1996 in European Journal of Human Genetics

https://doi.org/10.1159/000472233 Actions

Improving diagnosis of mitochondrial fatty-acid oxidation disorders

JOURNAL ARTICLE published March 2023 in European Journal of Human Genetics

Authors: Christine Vianey-Saban | Alain Fouilhoux | Jerry Vockley | Cécile Acquaviva-Bourdain | Nathalie Guffon

https://doi.org/10.1038/s41431-022-01260-1 Actions

Is there a “pandemic effect” on individuals’ willingness to take genetic tests?

JOURNAL ARTICLE published March 2023 in European Journal of Human Genetics

Research funded by Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung (CRSII5 180350,CRSII5 180350,CRSII5 180350,CRSII5 180350)

Authors: Thibaud Deruelle | Veronika Kalouguina | Philipp Trein | Joël Wagner

https://doi.org/10.1038/s41431-022-01223-6 Actions

Reply to Letter by Tellier et al., ‘Scientific refutation of ESHG statement on embryo selection’

JOURNAL ARTICLE published March 2023 in European Journal of Human Genetics

Authors: Francesca Forzano | Olga Antonova | Angus Clarke | Guido de Wert | Sabine Hentze | Yalda Jamshidi | Yves Moreau | Markus Perola | Inga Prokopenko | Andrew Read | Alexandre Reymond | Vigdis Stefansdottir | Carla van El | Maurizio Genuardi | Maurizio Genuardi | Borut Peterlin | Carla Oliveira | Karin Writzl | Gunnar Douzgos Houge | Christophe Cordier | Heidi Howard | Milan Macek | Béla Melegh | Alvaro Mendes | Dragica Radojkovic | Emmanuelle Rial-Sebbag | Fiona Ulph | Executive Committee of the European Society of Human Genetics | Public and Professional Policy Committee of the European Society of Human Genetics

https://doi.org/10.1038/s41431-022-01241-4 Actions

Correction to: Reply to Letter by Tellier et al., ‘Scientific refutation of ESHG statement on embryo selection’

JOURNAL ARTICLE published March 2023 in European Journal of Human Genetics

Authors: Francesca Forzano | Olga Antonova | Angus Clarke | Guido de Wert | Sabine Hentze | Yalda Jamshidi | Yves Moreau | Markus Perola | Inga Prokopenko | Andrew Read | Alexandre Reymond | Vigdis Stefansdottir | Carla van El | Maurizio Genuardi | Maurizio Genuardi | Borut Peterlin | Carla Oliveira | Karin Writzl | Gunnar Douzgos Houge | Christophe Cordier | Heidi Howard | Milan Macek | Béla Melegh | Alvaro Mendes | Dragica Radojkovic | Emmanuelle Rial-Sebbag | Fiona Ulph | Executive Committee of the European Society of Human Genetics | Public and Professional Policy Committee of the European Society of Human Genetics

https://doi.org/10.1038/s41431-022-01263-y Actions

Unraveling hyperlipidemia type III (dysbetalipoproteinemia), slowly

JOURNAL ARTICLE published May 2009 in European Journal of Human Genetics

Authors: Juergen R Schaefer

https://doi.org/10.1038/ejhg.2008.222 Actions

Influence of TIMP3/SYN3 polymorphisms on the phenotypic presentation of age-related macular degeneration

JOURNAL ARTICLE published October 2013 in European Journal of Human Genetics

Authors: Daniel Ardeljan | Catherine B Meyerle | Elvira Agron | Jie Jin Wang | Paul Mitchell | Emily Y Chew | Jing Zhao | Arvydas Maminishkis | Chi-Chao Chan | Jingsheng Tuo

https://doi.org/10.1038/ejhg.2013.14 Actions

Transmission ratio distortion and maternal effects confound the analysis of modulators of cystic fibrosis disease severity on 19q13

JOURNAL ARTICLE published July 2007 in European Journal of Human Genetics

Authors: Tim Becker | Silke Jansen | Stephanie Tamm | Thomas F Wienker | Burkhard Tümmler | Frauke Stanke

https://doi.org/10.1038/sj.ejhg.5201825 Actions

Meta-analysis of genetic association studies under heterogeneity

JOURNAL ARTICLE published November 2012 in European Journal of Human Genetics

Authors: Binod Neupane | Mark Loeb | Sonia S Anand | Joseph Beyene

https://doi.org/10.1038/ejhg.2012.75 Actions

Gene-based interaction analysis by incorporating external linkage disequilibrium information

JOURNAL ARTICLE published February 2011 in European Journal of Human Genetics

Authors: Jing He | Kai Wang | Andrew C Edmondson | Daniel J Rader | Chun Li | Mingyao Li

https://doi.org/10.1038/ejhg.2010.164 Actions

Genetic Services in Ireland

JOURNAL ARTICLE published 1997 in European Journal of Human Genetics

Authors: D.E. Barton

https://doi.org/10.1159/000484844 Actions

Low frequency of MECP2 mutations in mentally retarded males

JOURNAL ARTICLE published August 2002 in European Journal of Human Genetics

Authors: Helger G Yntema | Tjitske Kleefstra | Astrid R Oudakker | Tom Romein | Bert B A de Vries | Willy Nillesen | Erik A Sistermans | Han G Brunner | Ben C J Hamel | Hans van Bokhoven

https://doi.org/10.1038/sj.ejhg.5200836 Actions

Prenatal Diagnosis in France

JOURNAL ARTICLE published 1997 in European Journal of Human Genetics

Authors: Ségolène Aymé | Nicole Morichon | Janine Goujard | Israel Nisand

https://doi.org/10.1159/000484812 Actions

Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABAA receptor subunit gene cluster

JOURNAL ARTICLE published January 2014 in European Journal of Human Genetics

Authors: Michelle B Polan | Matthew T Pastore | Katherine Steingass | Sayaka Hashimoto | Devon L Thrush | Robert Pyatt | Shalini Reshmi | Julie M Gastier-Foster | Caroline Astbury | Kim L McBride

https://doi.org/10.1038/ejhg.2013.99 Actions

Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model

JOURNAL ARTICLE published July 2011 in European Journal of Human Genetics

Authors: Jessica L Mester | Amanda K Tilot | Lisa A Rybicki | Thomas W Frazier | Charis Eng

https://doi.org/10.1038/ejhg.2011.20 Actions

Genetic background of HSH in three Polish families and a patient with an X;9 translocation

JOURNAL ARTICLE published January 2006 in European Journal of Human Genetics

Authors: Reetta Jalkanen | Ewa Pronicka | Henna Tyynismaa | Andre Hanauer | Roxanne Walder | Tiina Alitalo

https://doi.org/10.1038/sj.ejhg.5201515 Actions

Inherited and de novo mutations in sporadic cases of DYT1-dystonia

JOURNAL ARTICLE published March 2002 in European Journal of Human Genetics

Authors: Lena Elisabeth Hjermind | Lene Moria Werdelin | Sven Asger Sørensen

https://doi.org/10.1038/sj.ejhg.5200782 Actions
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