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European Journal of Human Genetics : EJHG|April 28, 2021
Speech and language deficits are central to SETBP1 haploinsufficiency disorderAngela Morgan, Ruth Braden, Maggie M K Wong, et al.
European Journal of Human Genetics : EJHG|April 28, 2021
How do non-geneticist physicians deal with genetic tests? A qualitative analysisLaurent Pasquier, Guy Minguet, Sylvie Moisdon-Chataigner, et al.
European Journal of Human Genetics : EJHG|June 6, 2020
Inflammasome genetics and complex diseases: a comprehensive reviewFernanda Pereira Fernandes, Vinicius N C Leal, Dhemerson Souza de Lima, et al.
European Journal of Human Genetics : EJHG|May 25, 2021
Phenotypic homogeneity in childhood epilepsies evolves in gene-specific patterns across 3251 patient-years of clinical dataDavid Lewis-Smith, Shiva Ganesan, Peter D Galer, et al.
European Journal of Human Genetics : EJHG|July 4, 2025
A homozygous frameshift variant in the CILK1 gene causes cranioectodermal dysplasiaAbdullah Sezer, Sukru S Oner, Hanife Saat, et al.
European Journal of Human Genetics : EJHG|July 2, 2025
The European Certificate in Medical Genetics and Genomics (ECMGG)Peter D Turnpenny, Laura Pölsler, Ute Moog, et al.
European Journal of Human Genetics : EJHG|June 24, 2025
Houge-Janssens syndromeGunnar Douzgos Houge, Sofia Douzgou Houge, Tzung-Chien Hsieh, et al.
European Journal of Human Genetics : EJHG|December 22, 2025
Hereditary diffuse gastric cancer in progress: Comparative lessons from Lynch syndromeJoana Pereira, Luísa Carvalho, Soraia Melo, et al.
European Journal of Human Genetics : EJHG|December 14, 2025
Cascade counselling and testing. Recommendations of the European Society of Human GeneticsGuido de Wert, Carla G van El, Angus Clarke, et al.
European Journal of Human Genetics : EJHG|December 1, 2025
Fathers' and Mothers' support needs and support experiences after rapid genome sequencingHelen Dolling, Sophie Rowitch, Malachy Bromham, et al.
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