Showing results (701-710 of 5,631) with videos related to

Sort By:
Pageof 564
European Journal of Human Genetics : EJHG|May 16, 2018
Microcephaly, short stature, and limb abnormality disorder due to novel autosomal biallelic DONSON mutations in two German siblingsSolveig Schulz, Martin A Mensah, Heike de Vries, et al.
European Journal of Human Genetics : EJHG|July 13, 2017
Wilms tumour in Beckwith-Wiedemann Syndrome and loss of methylation at imprinting centre 2: revisiting tumour surveillance guidelinesJack Brzezinski, Cheryl Shuman, Sanaa Choufani, et al.
European Journal of Human Genetics : EJHG|May 20, 2018
The FAIR guiding principles for data stewardship: fair enough?Martin Boeckhout, Gerhard A Zielhuis, Annelien L Bredenoord
European Journal of Human Genetics : EJHG|May 20, 2018
Clinical progression and metachronous paragangliomas in a large cohort of SDHD germline variant carriersBerdine L Heesterman, Lisa M H de Pont, Andel Gl van der Mey, et al.
European Journal of Human Genetics : EJHG|July 4, 2018
Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genesStéphanie Baert-Desurmont, Sophie Coutant, Françoise Charbonnier, et al.
European Journal of Human Genetics : EJHG|July 7, 2018
Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiencyAnshika Srivastava, Kinshuk Raj Srivastava, Malavika Hebbar, et al.
European Journal of Human Genetics : EJHG|July 11, 2018
Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathyJudith M A Verhagen, Job H Veldman, Paul A van der Zwaag, et al.
European Journal of Human Genetics : EJHG|July 1, 2018
Whole-exome sequencing in intellectual disability; cost before and after a diagnosisTerry Vrijenhoek, Eline M Middelburg, Glen R Monroe, et al.
European Journal of Human Genetics : EJHG|June 13, 2018
A theory-informed systematic review of clinicians' genetic testing practicesJean L Paul, Hanna Leslie, Alison H Trainer, et al.
European Journal of Human Genetics : EJHG|June 13, 2018
Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformationWhitney L Wooderchak-Donahue, Peter Johnson, Jamie McDonald, et al.
Pageof 564