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European Journal of Human Genetics : EJHG|July 18, 2020
Molecular tumor testing in patients with Lynch-like syndrome reveals a de novo mosaic variant of a mismatch repair gene transmitted to offspringErell Guillerm, Magali Svrcek, Armelle Bardier-Dupas, et al.
European Journal of Human Genetics : EJHG|March 26, 2015
Deciphering associations for lung cancer risk through imputation and analysis of 12,316 cases and 16,831 controlsYufei Wang, Yongyue Wei, Valerie Gaborieau, et al.
European Journal of Human Genetics : EJHG|March 26, 2015
Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in ItalyMartina Nemethova, Jan Radvanszky, Ludevit Kadasi, et al.
European Journal of Human Genetics : EJHG|April 16, 2015
Association of mutations in FLNA with craniosynostosisNathalie Fennell, Nicola Foulds, Diana S Johnson, et al.
European Journal of Human Genetics : EJHG|July 11, 2020
Variants in the 5'UTR reduce SHOX expression and contribute to SHOX haploinsufficiencyDeepak Babu, Silvia Vannelli, Antonella Fanelli, et al.
European Journal of Human Genetics : EJHG|July 10, 2020
Novel candidate genes in esophageal atresia/tracheoesophageal fistula identified by exome sequencingJiayao Wang, Priyanka R Ahimaz, Somaye Hashemifar, et al.
European Journal of Human Genetics : EJHG|July 4, 2020
EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiencySabina Baumgartner-Parzer, Martina Witsch-Baumgartner, Wolfgang Hoeppner
European Journal of Human Genetics : EJHG|August 2, 2020
Rare heterozygous GDF6 variants in patients with renal anomaliesHelge Martens, Imke Hennies, Maike Getwan, et al.
European Journal of Human Genetics : EJHG|January 16, 2014
Managing clinically significant findings in research: the UK10K exampleJane Kaye, Matthew Hurles, Heather Griffin, et al.
European Journal of Human Genetics : EJHG|January 9, 2014
Variability in dentofacial phenotypes in four families with WNT10A mutationsChristian P Vink, Charlotte W Ockeloen, Sietske ten Kate, et al.
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