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BMC Health Services Research|December 10, 2020
Investment case for two-year post university speciality training in family medicine in Tajikistan: how much is needed for continuing and scaling up the improved education of family doctors?Jari Kempers, Leah F Bohle, Alexandra Topa, et al.Frontiers in Genetics|February 6, 2024
The value of genome-wide analysis in craniosynostosisAlexandra Topa, Anna Rohlin, André Fehr, et al.Journal of Medical Genetics|December 5, 2014
CTNND2-a candidate gene for reading problems and mild intellectual disabilityWolfgang Hofmeister, Daniel Nilsson, Alexandra Topa, et al.Journal of the American Society of Nephrology : JASN|May 24, 2014
Improving mutation screening in familial hematuric nephropathies through next generation sequencingVincent Morinière, Karin Dahan, Pascale Hilbert, et al.Journal of Medical Genetics|November 9, 2013
Different mutations in PDE4D associated with developmental disorders with mirror phenotypesAnna Lindstrand, Giedre Grigelioniene, Daniel Nilsson, et al.Genome Medicine|July 21, 2017
Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disabilityClaudio Reggiani, Sandra Coppens, Tayeb Sekhara, et al.Genome Research|October 29, 2024
A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexitiesJesper Eisfeldt, Adam Ameur, Felix Lenner, et al.The Journal of Craniofacial Surgery|July 22, 2025
The Development of a European Registry for Facial Dysostosis Syndromes: A Delphi-Guided ApproachVictor L van Roey, Saranda Ombashi, Irene M J Mathijssen, et al.Pageof 2