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European Journal of Human Genetics : EJHG|March 11, 2025
Building a hereditary cancer program in Colombia: analysis of germline pathogenic and likely pathogenic variants spectrum in a high-risk cohortMaría Carolina Sanabria-Salas, Ana Lucía Rivera-Herrera, María Carolina Manotas, et al.
European Journal of Human Genetics : EJHG|March 20, 2025
Heterozygous CELF4 variants in the N-term region crucial for the RNA-binding activity lead to neurodevelopmental disorder and obesityAnge-Line Bruel, Anneke T Vulto-vanSilfhout, Frédéric Bilan, et al.
European Journal of Human Genetics : EJHG|December 5, 2024
Novel variants impairing Sp1 transcription factor binding in the COL7A1 promoter cause mild cases of recessive dystrophic epidermolysis bullosaNathalie Pironon, Artyom Gasparyan, María Joao Yubero, et al.
European Journal of Human Genetics : EJHG|December 5, 2024
Reconstructing the population history of the NicobareseRahul Kumar Mishra, Prajjval Pratap Singh, Niraj Rai, et al.
European Journal of Human Genetics : EJHG|December 6, 2024
Perceptions of severity and their influence on reproductive decision-making following reproductive genetic carrier screeningElisha Swainson, Erin Tutty, Lucinda Freeman, et al.
European Journal of Human Genetics : EJHG|December 3, 2024
ELMO2-related intraosseous vascular malformation: new cases with novel pathogenic variants, clinical follow-up and therapeutic approachesMert Karakaya, Iman Ragab, Vera Riehmer, et al.
European Journal of Human Genetics : EJHG|December 8, 2024
Phenotypic subtypes of Xia-Gibbs syndrome: a latent class analysisNan Jiang, Liyuan Zhang, Zeyan Zheng, et al.
European Journal of Human Genetics : EJHG|December 7, 2024
Knowledge, attitudes and demand toward cardiovascular polygenic risk testing in clinical practice: cross-sectional survey of patientsShanjot Brar, Jared Townsend, Joban Phulka, et al.
European Journal of Human Genetics : EJHG|December 12, 2024
Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphismFatima Rahman, Luisa Marsili, Domizia Pasquetti, et al.
European Journal of Human Genetics : EJHG|August 20, 2024
Description and first insights on a large genomic biobank of lung transplantationSimon Brocard, Martin Morin, Nayane Dos Santos Brito Silva, et al.
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