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Showing results for ISSN matching 1018-4813

Genome-wide gene–environment interactions on quantitative traits using family data

JOURNAL ARTICLE published July 2016 in European Journal of Human Genetics

Authors: Colleen M Sitlani | Josée Dupuis | Kenneth M Rice | Fangui Sun | Achilleas N Pitsillides | L Adrienne Cupples | Bruce M Psaty

https://doi.org/10.1038/ejhg.2015.253 Actions

A two-stage inter-rater approach for enrichment testing of variants associated with multiple traits

JOURNAL ARTICLE published March 2017 in European Journal of Human Genetics

Authors: Jennifer L Asimit | Felicity Payne | Andrew P Morris | Heather J Cordell | Inês Barroso

https://doi.org/10.1038/ejhg.2016.171 Actions

Klüver–Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C)

JOURNAL ARTICLE published February 2017 in European Journal of Human Genetics

Authors: Hao Hu | Christoph Hübner | Zoltan Lukacs | Luciana Musante | Esther Gill | Thomas F Wienker | Hans-Hilger Ropers | Ellen Knierim | Markus Schuelke

https://doi.org/10.1038/ejhg.2016.149 Actions

Erratum: Myhre and LAPS syndromes: clinical and molecular review of 32 patients

JOURNAL ARTICLE published November 2014 in European Journal of Human Genetics

Authors: Caroline Michot | Carine Le Goff | Clémentine Mahaut | Alexandra Afenjar | Alice S Brooks | Philippe M Campeau | Anne Destree | Maja Di Rocco | Dian Donnai | Raoul Hennekam | Delphine Heron | Sébastien Jacquemont | Peter Kannu | Angela E Lin | Sylvie Manouvrier-Hanu | Sahar Mansour | Sandrine Marlin | Ruth McGowan | Helen Murphy | Annick Raas-Rothschild | Marléne Rio | Marleen Simon | Irene Stolte-Dijkstra | James R Stone | Yves Sznajer | John Tolmie | Renaud Touraine | Jenneke van den Ende | Nathalie Van der Aa | Ton van Essen | Alain Verloes | Arnold Munnich | Valérie Cormier-Daire

https://doi.org/10.1038/ejhg.2014.182 Actions

The Dutch legal approach regarding health care decisions involving minors in the NGS days

JOURNAL ARTICLE published February 2017 in European Journal of Human Genetics

Authors: Elcke J Kranendonk | Raoul C Hennekam | Martine Corrette Ploem

https://doi.org/10.1038/ejhg.2016.159 Actions

DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3

JOURNAL ARTICLE published January 2010 in European Journal of Human Genetics

Authors: Shahid Yar Khan | Saima Riazuddin | Mohsin Shahzad | Nazir Ahmed | Ahmad Usman Zafar | Atteeq Ur Rehman | Robert J Morell | Andrew J Griffith | Zubair M Ahmed | Sheikh Riazuddin | Thomas B Friedman

https://doi.org/10.1038/ejhg.2009.121 Actions

On the origin of Y-chromosome haplogroup N1b

JOURNAL ARTICLE published December 2009 in European Journal of Human Genetics

Authors: Boris Malyarchuk | Miroslava Derenko

https://doi.org/10.1038/ejhg.2009.100 Actions

Erratum: Composite measure of linkage disequilibrium for testing interaction between unlinked loci

JOURNAL ARTICLE published September 2008 in European Journal of Human Genetics

Authors: Xuesen Wu | L Jin | Momiao Xiong

https://doi.org/10.1038/ejhg.2008.53 Actions

Listen carefully: LIS1 and DCX MLPA in lissencephaly and subcortical band heterotopia

JOURNAL ARTICLE published June 2009 in European Journal of Human Genetics

Authors: Martin B Delatycki | Richard J Leventer

https://doi.org/10.1038/ejhg.2008.230 Actions

Erratum: Micro-exons of the cardiac myosin binding protein C gene: flanking introns contain a disproportionately large number of hypertrophic cardiomyopathy mutations

JOURNAL ARTICLE published August 2008 in European Journal of Human Genetics

Authors: Rune Frank-Hansen | Stephen P Page | Petros Syrris | William J McKenna | Michael Christiansen | Paal Skytt Andersen

https://doi.org/10.1038/ejhg.2008.80 Actions

Testing the parents to confirm genotypes of CF patients is highly recommended: report of two cases

JOURNAL ARTICLE published April 2009 in European Journal of Human Genetics

Authors: Manfred Stuhrmann | Kai Brakensiek | Loukas Argyriou | Ingolf Boehm | Katrin Hinderhofer | Ingrid Bauer | Britta M Rhode | Madeleine Maelzer | Christine Zuehlke | Gabriele Krueger | Joerg Schmidtke

https://doi.org/10.1038/ejhg.2008.190 Actions

Sephardic signature in haplogroup T mitochondrial DNA

JOURNAL ARTICLE published April 2012 in European Journal of Human Genetics

Authors: Felice L Bedford

https://doi.org/10.1038/ejhg.2011.200 Actions

Erratum: Imaging genetics of FOXP2 in dyslexia

JOURNAL ARTICLE published June 2012 in European Journal of Human Genetics

Authors: Arndt Wilcke | Carolin Ligges Jana Burkhardt | Michael Alexander | Christiane Wolf | Elfi Quente | Peter Ahnert | Per Hoffmann | Albert Becker | Bertram Müller-Myhsok | Sven Cichon | Johannes Boltze | Holger Kirsten

https://doi.org/10.1038/ejhg.2012.31 Actions

Permanence of the information given during oncogenetic counseling to persons at familial risk of breast/ovarian and/or colon cancer

JOURNAL ARTICLE published February 2012 in European Journal of Human Genetics

Authors: Fabrice Kwiatkowski | Pascal Dessenne | Claire Laquet | Marie-Françoise Petit | Yves-Jean Bignon

https://doi.org/10.1038/ejhg.2011.169 Actions

Erratum: Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy

JOURNAL ARTICLE published September 2011 in European Journal of Human Genetics

Authors: Francesca I Arrigoni | Mar Matarin | Pamela J Thompson | Michel Michaelides | Michelle E McClements | Elizabeth Redmond | Lindsey Clarke | Elizabeth Ellins | Saifullah Mohamed | Ian Pavord | Nigel Klein | David M Hunt | Anthony T Moore | Julian Halcox | Sanjay M Sisodiya

https://doi.org/10.1038/ejhg.2011.73 Actions

Erratum: A genome-wide scan of 10 000 gene-centric variants and colorectal cancer risk

JOURNAL ARTICLE published October 2011 in European Journal of Human Genetics

Authors: Emily Webb | Peter Broderick | Steven Lubbe | Ian Chandler | Ian Tomlinson | Richard S Houlston

https://doi.org/10.1038/ejhg.2011.77 Actions

Erratum: An updated tree of Y-chromosome Haplogroup O and revised phylogenetic positions of mutations P164 and PK4

JOURNAL ARTICLE published September 2011 in European Journal of Human Genetics

Authors: Shi Yan | The Genographic Consortium | Chuan-Chao Wang | Hui Li | Shi-Lin Li | Li Jin

https://doi.org/10.1038/ejhg.2011.116 Actions

Genome-wide search for QTLs for apolipoprotein A-I level in elderly Swedish DZ twins: evidence of female-specific locus on 15q11–13

JOURNAL ARTICLE published September 2008 in European Journal of Human Genetics

Authors: Patrik K E Magnusson | Marcus Boman | Ulf de Faire | Markus Perola | Leena Peltonen | Nancy L Pedersen

https://doi.org/10.1038/ejhg.2008.50 Actions

Modifier Genes and HNPCC: Variable phenotypic expression in HNPCC and the search for modifier genes

JOURNAL ARTICLE published May 2008 in European Journal of Human Genetics

Authors: Rodney J Scott

https://doi.org/10.1038/ejhg.2008.46 Actions

Is paternal age playing a role in the changing prevalence of Klinefelter syndrome?

JOURNAL ARTICLE published October 2008 in European Journal of Human Genetics

Authors: Amy S Herlihy | Jane Halliday

https://doi.org/10.1038/ejhg.2008.96 Actions
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