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European Journal of Medical Genetics|March 11, 2020
Clues and challenges in the diagnosis of intermittent maple syrup urine diseaseNaomi Pode-Shakked, Stanley H Korman, Ben Pode-Shakked, et al.Pediatric Blood & Cancer|October 14, 2024
Long-term hematopoietic dysfunction in patients with large-scale mitochondrial DNA deletion syndromesNoa Greenberg-Kushnir, Liron D Grossmann, Assaf Arie Barg, et al.Journal of Child Neurology|April 22, 2015
CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 GeneGali Heimer, Yair Sadaka, Lori Israelian, et al.Human Mutation|November 7, 2019
Netrin-G2 dysfunction causes a Rett-like phenotype with areflexiaGali Heimer, Geeske M van Woerden, Ortal Barel, et al.Blood|November 15, 2012
CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathyYoram Nevo, Bruria Ben-Zeev, Adi Tabib, et al.Journal of Neurology|September 10, 2014
Costeff syndrome: clinical features and natural historyGilad Yahalom, Yair Anikster, Ruth Huna-Baron, et al.Journal of the American Society of Nephrology : JASN|March 23, 2013
Renal hypodysplasia associates with a WNT4 variant that causes aberrant canonical WNT signalingAsaf Vivante, Michal Mark-Danieli, Miriam Davidovits, et al.The New England Journal of Medicine|April 20, 2012
Integrin α3 mutations with kidney, lung, and skin diseaseCristina Has, Giuseppina Spartà, Dimitra Kiritsi, et al.Respiratory Research|May 5, 2022
Progressive pulmonary fibrosis in a murine model of Hermansky-Pudlak syndromeShachar Abudi-Sinreich, Steven P Bodine, Tadafumi Yokoyama, et al.Journal of Inherited Metabolic Disease|July 3, 2016
Expanding the molecular diversity and phenotypic spectrum of glycerol 3-phosphate dehydrogenase 1 deficiencyCarlo Dionisi-Vici, Eyal Shteyer, Marcello Niceta, et al.Pageof 14