Periodical (Journal)

  1. PSIthority
  2. Library
  3. Periodicals
ISSN  :   1018-4813 ( Print )   |   1476-5438 ( Online )   Active

European Journal of Human Genetics (EJHG)

Aim & Scope
The European Journal of Human Genetics is the official Journal of the European Society of Human Genetics, publishing high-quality, original research papers, short reports and reviews in the rapidly expanding field of human genetics. It covers molecular, clinical and cytogenetics, interfacing between advanced biomedical research and the clinician and bridging the great diversity of facilities, resources and viewpoints in the genetics community in Europe and elsewhere. Key areas include: Monogenic and multifactorial disorders Development and malformation Hereditary cancer Gene mapping and functional studies Genotype-phenotype correlations Genetic variation and genome diversity Advances in diagnostics Therapy and prevention Animal models Genetic services Community genetics. [1]

Go to Website

2023
88 RESULTS in 47 msec
2023-09-13
The reuse of genetic information in research and informed consent.

D Lorenzo , M Esquerda , M Bofarull , ... , F Palau

European Journal of Human Genetics (EJHG) , 2023

 
0 35
not available
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology

H Oppermann , E Marcos-Grañeda , LA Weiss , ... , K Platzer

European Journal of Human Genetics (EJHG) , 2023

 
0 37
2023-06-21
A survey of genetic and palliative care health professionals' views of integrating genetics into palliative care.

S White , E Turbitt , K Rogers , ... , C Jacobs

European Journal of Human Genetics (EJHG) , 2023

 
0 34
2023-01-04
X-linked C1GALT1C1 mutation causes atypical hemolytic uremic syndrome.

N Hadar , R Schreiber , M Eskin-Schwartz , ... , OS Birk

European Journal of Human Genetics (EJHG) , 2023

 
2 40
2023-06-15
Reconciling the biomedical data commons and the GDPR: three lessons from the EUCAN ELSI collaboratory.

A Bernier , F Molnár-Gábor , BM Knoppers , ... , L Maxwell

European Journal of Human Genetics (EJHG) , 2023

 
0 20
not available
Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations

A Yahia , AAA Hamed , IN Mohamed , ... , G Stevanin

European Journal of Human Genetics (EJHG) , 2023

 
2 37
2023-09-06
Oro-dental phenotyping and report of three families with RELT-associated amelogenesis imperfecta.

KKM Resende , MC Riou , PM Yamaguti , ... , M de La Dure-Molla

European Journal of Human Genetics (EJHG) , 2023

 
0 17
not available
A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome

EO Klemenzdottir , GA Arnadottir , BO Jensson , ... , P Sulem

European Journal of Human Genetics (EJHG) , 2023

 
0 43
2023-09-12
The molecular genetics of nELAVL in brain development and disease.

MR Mulligan , LS Bicknell

European Journal of Human Genetics (EJHG) , 2023

  Review
0 0
not available
Evaluation of CTRL: a web application for dynamic consent and engagement with individuals involved in a cardiovascular genetic disorders cohort

MA Haas , EO Madelli , R Brown , ... , T Boughtwood

European Journal of Human Genetics (EJHG) , 2023

 
0 28