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European Journal of Human Genetics : EJHG|January 26, 2019
De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphismsSandra Jansen, Ilse M van der Werf, A Micheil Innes, et al.
European Journal of Human Genetics : EJHG|January 26, 2019
Exome sequencing of fetal anomaly syndromes: novel phenotype-genotype discoveriesNicole Meier, Elisabeth Bruder, Olav Lapaire, et al.
European Journal of Human Genetics : EJHG|January 22, 2019
Genetics of the patellaMark E Samuels, Philippe M Campeau
European Journal of Human Genetics : EJHG|November 6, 2019
Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patientsJair Tenorio, Pablo Alarcón, Pedro Arias, et al.
European Journal of Human Genetics : EJHG|January 28, 2018
Usefulness of the genetic risk score to identify phenocopies in families with familial hypercholesterolemia?Youmna Ghaleb, Sandy Elbitar, Petra El Khoury, et al.
European Journal of Human Genetics : EJHG|January 28, 2018
Patient experience and utility of genetic information: a cross-sectional study among patients tested for cancer susceptibility and thrombophiliaElvira D'Andrea, Tyra Lagerberg, Corrado De Vito, et al.
European Journal of Human Genetics : EJHG|January 14, 2018
SHOX haploinsufficiency presenting with isolated short long bones in the second and third trimesterShwetha Ramachandrappa, Abhijit Kulkarni, Hina Gandhi, et al.
European Journal of Human Genetics : EJHG|January 19, 2018
Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiencySanna Puusepp, Reka Kovacs-Nagy, Bader Alhaddad, et al.
European Journal of Human Genetics : EJHG|January 19, 2018
Biallelic variants in KIF14 cause intellectual disability with microcephalyPeriklis Makrythanasis, Reza Maroofian, Asbjørg Stray-Pedersen, et al.
European Journal of Human Genetics : EJHG|January 20, 2018
Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndromeAnneke Kievit, Federico Tessadori, Hannie Douben, et al.
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