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Plos One|May 7, 2015
Correlation between the Lactate Dehydrogenase Levels with Laboratory Variables in the Clinical Severity of Sickle Cell Anemia in Congolese PatientsTite Minga Mikobi, Prosper Lukusa Tshilobo, Michel Ntetani Aloni, et al.European Journal of Human Genetics : EJHG|October 29, 2015
Guidelines for diagnostic next-generation sequencingGert Matthijs, Erika Souche, Mariëlle Alders, et al.Human Molecular Genetics|February 21, 2012
Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosisSarah Herdewyn, Hui Zhao, Matthieu Moisse, et al.JIMD Reports|March 17, 2021
SLC37A4-CDG: Second patientMatthew P Wilson, Dulce Quelhas, Elisa Leão-Teles, et al.Proceedings of the National Academy of Sciences of the United States of America|May 1, 2019
Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotypeEline Blommaert, Romain Péanne, Natalia A Cherepanova, et al.Plos Genetics|December 19, 2013
MAN1B1 deficiency: an unexpected CDG-IIDaisy Rymen, Romain Peanne, María B Millón, 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.Annals of Neurology|October 31, 2012
DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsyRita Barone, Chiara Aiello, Valérie Race, et al.The Journal of Pediatrics|December 19, 2020
Congenital Disorders of Glycosylation in Portugal-Two Decades of ExperienceDulce Quelhas, Esmeralda Martins, Luísa Azevedo, et al.Pageof 2