Showing results (1561-1570 of 5,631) with videos related to

Sort By:
Pageof 564
European Journal of Human Genetics : EJHG|May 15, 2020
Predictive genetic testing in Huntington's disease: should a neurologist be involved?Mayke Oosterloo, Emilia K Bijlsma, Corien C Verschuuren-Bemelmans, et al.
European Journal of Human Genetics : EJHG|May 17, 2020
Who ever heard of 16p11.2 deletion syndrome? Parents' perspectives on a susceptibility copy number variation syndromeLotte Kleinendorst, Lieke M van den Heuvel, Lidewij Henneman, et al.
European Journal of Human Genetics : EJHG|May 30, 2020
Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNet-ESPN inherited glomerulopathy working groupBeata Stefania Lipska-Ziętkiewicz, Fatih Ozaltin, Tuula Hölttä, et al.
European Journal of Human Genetics : EJHG|May 30, 2020
Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesiaDiane Doummar, Christel Dentel, Romane Lyautey, et al.
European Journal of Human Genetics : EJHG|May 20, 2020
Quality of life drives patients' preferences for secondary findings from genomic sequencingChloe Mighton, Lindsay Carlsson, Marc Clausen, et al.
European Journal of Human Genetics : EJHG|August 2, 2022
Minors at risk of von Hippel-Lindau disease: 10 years' experience of predictive genetic testing and follow-up adherenceRoseline Vibert, Khadija Lahlou-Laforêt, Maryam Samadi, et al.
European Journal of Human Genetics : EJHG|September 10, 2021
Alkaptonuria in RussiaAndrea Soltysova, Alexandr Kuzin, Elena Samarkina, et al.
European Journal of Human Genetics : EJHG|September 6, 2021
A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiencyMatthew A Lines, Alexanne Cuillerier, Pranesh Chakraborty, et al.
European Journal of Human Genetics : EJHG|May 28, 2015
Genome-wide association study with 1000 genomes imputation identifies signals for nine sex hormone-related phenotypesKatherine S Ruth, Purdey J Campbell, Shelby Chew, et al.
European Journal of Human Genetics : EJHG|May 28, 2015
A qualitative study to explore how professionals in the United Kingdom make decisions to test children for a sickle cell carrier statusMelissa Noke, Sarah Peters, Alison Wearden, et al.
Pageof 564