european journal of human genetics : ejhg

Indexings	ncbi
Short Name	eur j hum genet
Abbreviated Name	eur j hum genet
ISSN	1476-5438
Aim and Scope
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Author Instructions

Publications Per Year

Recent Articles (6 total)

2019

Ethical, legal, and social issues (ELSI) in rare diseases: a landscape analysis from funders.

Hartman, Adam L;Hechtelt Jonker, Anneliene;Parisi, Melissa A;Julkowska, Daria;Lockhart, Nicole;Isasi, Rosario;

342 views DOI Abstract

2019

Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes.

Beygo, Jasmin;Buiting, Karin;Ramsden, Simon C;Ellis, Rachael;Clayton-Smith, Jill;Kanber, Deniz;

Vol. 27 , No. 9 , pp. 1326-1340

269 views DOI Abstract

2010

Linking the sub-Saharan and West Eurasian gene pools: maternal and paternal heritage of the Tuareg nomads from the African Sahel.

Pereira, Luísa;Cerný, Viktor;Cerezo, María;Silva, Nuno M;Hájek, Martin;Vasíková, Alzbeta;Kujanová, Martina;Brdicka, Radim;Salas, Antonio;

Vol. 18 , No. 8 , pp. 915-23

257 views DOI Abstract

2018

Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin.

Zepeda-Mendoza, Cinthya J;Bardon, Alexandra;Kammin, Tammy;Harris, David J;Cox, Helen;Redin, Claire;Ordulu, Zehra;Talkowski, Michael E;Morton, Cynthia C;

Vol. 26 , No. 3 , pp. 374-381

235 views DOI Abstract

2013

sistemas sociopsicopolÍticos de la justicia sustentable

;Cruz García Lirios;Javier Carreón Guillén;Jorge Hernández Valdés

, No. 13 , pp. -

182 views Abstract

2017

Japan's initiative on rare and undiagnosed diseases (IRUD): towards an end to the diagnostic odyssey.

Adachi, Takeya;Kawamura, Kazuo;Furusawa, Yoshihiko;Nishizaki, Yuji;Imanishi, Noriaki;Umehara, Senkei;Izumi, Kazuo;Suematsu, Makoto;

Vol. 25 , No. 9 , pp. 1025-1028

170 views DOI Abstract

Overall

Not Rated

Journament