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Human Molecular Genetics|January 17, 2009
The Aurora Kinase C c.144delC mutation causes meiosis I arrest in men and is frequent in the North African populationKlaus Dieterich, Raoudha Zouari, Radu Harbuz, et al.
Nutrients|November 22, 2017
The Overlapping Area of Non-Celiac Gluten Sensitivity (NCGS) and Wheat-Sensitive Irritable Bowel Syndrome (IBS): An UpdateCarlo Catassi, Armin Alaedini, Christian Bojarski, et al.
American Journal of Medical Genetics. Part A|September 27, 2014
Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contracturesJulien Thevenon, Nicole Monnier, Patrick Callier, et al.
Journal of Molecular and Cellular Cardiology|November 17, 2018
Identification and regulation of the long non-coding RNA Heat2 in heart failureJes-Niels Boeckel, Maya F Perret, Simone F Glaser, et al.
American Journal of Medical Genetics. Part A|March 15, 2019
CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findingsLaura Carrera-García, Daniel Natera-de Benito, Klaus Dieterich, et al.
Endocrine-Related Cancer|October 28, 2020
HIF2α supports pro-metastatic behavior in pheochromocytomas/paragangliomasNicole Bechmann, Mats Leif Moskopp, Martin Ullrich, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 3, 2020
DOORS syndrome and a recurrent truncating ATP6V1B2 variantEliane Beauregard-Lacroix, Guillermo Pacheco-Cuellar, Norbert F Ajeawung, et al.
Neurology|March 6, 2025
Genotype-Phenotype Landscape of NALCN and UNC80-Related DisordersPaloma Parra-Díaz, Arnaud Monteil, Daniel Calame, et al.
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