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American Journal of Medical Genetics. Part A|March 8, 2020
A founder truncating variant in GDF1 causes autosomal-recessive right isomerism and associated congenital heart defects in multiplex Arab kindredsDina Marek-Yagel, Yoav Bolkier, Ortal Barel, et al.American Journal of Medical Genetics. Part A|August 25, 2019
Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndromeOrna Staretz-Chacham, Rachel Shukrun, Ortal Barel, et al.The Journal of Biological Chemistry|June 27, 2012
A dominant negative heterozygous G87R mutation in the zinc transporter, ZnT-2 (SLC30A2), results in transient neonatal zinc deficiencyInbal Lasry, Young Ah Seo, Hadas Ityel, et al.Journal of Pediatric Gastroenterology and Nutrition|October 18, 2016
Congenital Sucrase-isomaltase Deficiency: A Novel Compound Heterozygous Mutation Causing Aberrant Protein LocalizationYael Haberman, Ayelet Di Segni, Nurit Loberman-Nachum, et al.Antioxidants (Basel, Switzerland)|January 28, 2026
Bioenergetic Signatures of DLD Deficiency: Dissecting PDHc- and α-KGDHc-Linked DefectsYarden Haham Zarbib, Shira Huri Ohev-Shalom, Shani Kassia Lyskov, et al.Journal of Inherited Metabolic Disease|May 14, 2010
Metabolic acetate therapy improves phenotype in the tremor rat model of Canavan diseasePeethambaran Arun, Chikkathur N Madhavarao, John R Moffett, et al.Orphanet Journal of Rare Diseases|September 9, 2021
The effects of the COVID-19 pandemic on patients with lysosomal storage disorders in IsraelEyal Kristal, Ben Pode-Shakked, Guy Hazan, et al.Pigment Cell & Melanoma Research|September 3, 2011
Cellular and clinical report of new Griscelli syndrome type III casesWendy Westbroek, Aharon Klar, Andrew R Cullinane, et al.Kidney International Reports|November 9, 2019
Rationale and Design for a Phase 1 Study of N-Acetylmannosamine for Primary Glomerular DiseasesMarjan Huizing, Tal Yardeni, Federico Fuentes, et al.Molecular Cell|October 3, 2015
TECPR2 Cooperates with LC3C to Regulate COPII-Dependent ER ExportDaniela Stadel, Valentina Millarte, Kerstin D Tillmann, et al.Pageof 14