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Prenatal Diagnosis|October 19, 2005
Hydrops fetalis: an unusual prenatal presentation of hereditary congenital lymphedemaEtty Daniel-Spiegel, Arash Ghalamkarpour, Ronen Spiegel, et al.Gene|December 14, 2012
A novel homozygous TMEM70 mutation results in congenital cataract and neonatal mitochondrial encephalo-cardiomyopathyZeynep Atay, Abdullah Bereket, Serap Turan, et al.Pediatric Endocrinology Reviews : PER|April 11, 2014
Glycogen storage disease type III in Israel: presentation and long-term outcomeEli Hershkovitz, Itay Forschner, Hanna Mandel, et al.European Journal of Clinical Investigation|November 27, 2012
A novel mutation in the albumin gene (c.1A>C) resulting in analbuminemiaGianluca Caridi, Monica Dagnino, Francesca Lugani, et al.Journal of Inherited Metabolic Disease|March 25, 2025
Increased Survival in Patients With Molybdenum Cofactor Deficiency Type A Treated With Cyclic Pyranopterin MonophosphateGuenter Schwarz, Donald G Basel, Bernd C Schwahn, et al.Frontiers in Pediatrics|December 12, 2022
Favorable outcome of empagliflozin treatment in two pediatric glycogen storage disease type 1b patientsZufit Hexner-Erlichman, Maria Veiga-da-Cunha, Yoav Zehavi, et al.Molecular Genetics and Metabolism|March 19, 2005
A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humansRonen Spiegel, Gideon Bach, Vivi Sury, et al.Ejhaem|July 18, 2022
Primary autoimmune myelofibrosis: A case report in a childZufit Hexner-Erlichman, Joanne Yacobovich, Philippe Trougouboff, et al.European Journal of Medical Genetics|April 9, 2017
De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathyYoav Zehavi, Hanna Mandel, Arie Zehavi, et al.Orphanet Journal of Rare Diseases|February 28, 2024
Lack of mitochondrial complex I assembly factor NDUFAF2 results in a distinctive infantile-onset brainstem neurodegenerative disease with early lethalityFiras Abu Hanna, Yoav Zehavi, Eran Cohen-Barak, et al.Pageof 11