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European Journal of Human Genetics : EJHG|May 10, 2023
Abdominal obesity is a more important causal risk factor for pancreatic cancer than overall obesityJared G Maina, Vincent Pascat, Liudmila Zudina, et al.
European Journal of Human Genetics : EJHG|May 22, 2023
New insights into the molecular basis of spinal neurofibromatosis type 1Paola Bettinaglio, Eleonora Mangano, Viviana Tritto, et al.
European Journal of Human Genetics : EJHG|July 2, 2015
Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and colobomaBrett Deml, Linda M Reis, Emmanuelle Lemyre, et al.
European Journal of Human Genetics : EJHG|July 9, 2015
Loss-of-function variants in HIVEP2 are a cause of intellectual disabilitySiddharth Srivastava, Hartmut Engels, Ina Schanze, et al.
European Journal of Human Genetics : EJHG|July 9, 2015
EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH)Graça Porto, Pierre Brissot, Dorine W Swinkels, et al.
European Journal of Human Genetics : EJHG|July 16, 2015
Telegenetics use in presymptomatic genetic counselling: patient evaluations on satisfaction and quality of careEllen Otten, Erwin Birnie, Adelita V Ranchor, et al.
European Journal of Human Genetics : EJHG|July 16, 2015
Carney triad can be (rarely) associated with germline succinate dehydrogenase defectsSosipatros A Boikos, Paraskevi Xekouki, Elena Fumagalli, et al.
European Journal of Human Genetics : EJHG|July 16, 2015
Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegenerationZafar Iqbal, Lucia Püttmann, Luciana Musante, et al.
European Journal of Human Genetics : EJHG|July 23, 2015
Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophyMinh Nguyen, Iris Boesten, Debby M E I Hellebrekers, et al.
European Journal of Human Genetics : EJHG|June 11, 2015
STAG3 truncating variant as the cause of primary ovarian insufficiencyPolona Le Quesne Stabej, Hywel J Williams, Chela James, et al.
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