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Genes|June 27, 2024
RNF213 Polymorphisms in Intracranial Artery DissectionMarialuisa Zedde, Ilaria Grisendi, Federica Assenza, et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc|February 28, 2015
SDHB/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: a multicenter interobserver variation analysis using virtual microscopy: a Multinational Study of the European Network for the Study of Adrenal Tumors (ENS@T)Thomas G Papathomas, Lindsey Oudijk, Alexandre Persu, et al.
Nature Genetics|October 13, 2006
DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasisBettina Lorenz-Depiereux, Murat Bastepe, Anna Benet-Pagès, et al.
Journal of Medical Genetics|August 19, 2016
Cystathionine β-synthase genetic variant rs2124459 is associated with a reduced risk of cleft palate in French and Belgian populationsLaetitia Goffinet, Abderrahim Oussalah, Rosa-Maria Guéant-Rodriguez, et al.
American Journal of Human Genetics|June 12, 2012
TMEM165 deficiency causes a congenital disorder of glycosylationFrançois Foulquier, Mustapha Amyere, Jaak Jaeken, et al.
Biorxiv : the Preprint Server for Biology|July 19, 2024
An endothelial SOX18-mevalonate pathway axis enables repurposing of statins for infantile hemangiomaAnnegret Holm, Matthew S Graus, Jill Wylie-Sears, et al.
Human Molecular Genetics|October 20, 2007
Alpha-cardiac actin mutations produce atrial septal defectsHans Matsson, Jacqueline Eason, Carol S Bookwalter, et al.
European Journal of Medical Genetics|April 29, 2022
The VASCERN-VASCA working group diagnostic and management pathways for severe and/or rare infantile hemangiomasAndrea Diociaiuti, Eulalia Baselga, Laurence M Boon, et al.
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