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european journal of human genetics : ejhg

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Indexings
ncbi
Short Name eur j hum genet
Abbreviated Name eur j hum genet
ISSN 1476-5438
Aim and Scope
URL
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;
373 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
288 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
286 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
266 views DOI 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
209 views DOI Abstract
2013
sistemas sociopsicopolÍticos de la justicia sustentable
;Cruz García Lirios;Javier Carreón Guillén;Jorge Hernández Valdés
, No. 13 , pp. -
203 views Abstract
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