Showing results (1661-1670 of 5,631) with videos related to

Sort By:
Pageof 564
European Journal of Human Genetics : EJHG|October 29, 2015
A general approach for combining diverse rare variant association tests provides improved robustness across a wider range of genetic architecturesBrian Greco, Allison Hainline, Jaron Arbet, et al.
European Journal of Human Genetics : EJHG|October 29, 2015
Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3Petra Liskova, Cerys J Evans, Alice E Davidson, et al.
European Journal of Human Genetics : EJHG|May 5, 2019
gr/gr deletion predisposes to testicular germ cell tumour independently from altered spermatogenesis: results from the largest European studyDaniel Moreno-Mendoza, Elena Casamonti, Donatella Paoli, et al.
European Journal of Human Genetics : EJHG|May 5, 2019
Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestryImen Chakchouk, Di Zhang, Zhihui Zhang, et al.
European Journal of Human Genetics : EJHG|May 5, 2019
Trends in BRCA testing and socioeconomic deprivationAntony P Martin, Gabriel Pedra, Jennifer Downing, et al.
European Journal of Human Genetics : EJHG|April 27, 2019
Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desminLisa G Riley, Leigh B Waddell, Roula Ghaoui, et al.
European Journal of Human Genetics : EJHG|May 3, 2019
Reappraisal of variants previously linked with sudden infant death syndrome: results from three population-based cohortsChristian Paludan-Müller, Jonas Ghouse, Oliver B Vad, et al.
European Journal of Human Genetics : EJHG|September 26, 2018
Stereocilin gene variants associated with episodic vertigo: expansion of the DFNB16 phenotypeCarina Frykholm, Joakim Klar, Tatjana Tomanovic, et al.
European Journal of Human Genetics : EJHG|April 26, 2018
Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform molesJianHua Qian, Ngoc Minh Phuong Nguyen, Maryam Rezaei, et al.
European Journal of Human Genetics : EJHG|August 16, 2018
Linear isoforms of the long noncoding RNA CDKN2B-AS1 regulate the c-myc-enhancer binding factor RBMS1Michael Hubberten, Gregor Bochenek, Hong Chen, et al.
Pageof 564