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European Journal of Medical Genetics|July 13, 2010
Expanding the clinical spectrum of SLC29A3 gene defectsRonen Spiegel, Simon T Cliffe, Michael F Buckley, et al.Journal of Inherited Metabolic Disease|November 15, 2015
Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening programJonathan Rips, Shlomo Almashanu, Hanna Mandel, et al.European Thyroid Journal|June 28, 2021
High Prevalence of Hearing Impairment in Primary Congenital HypothyroidismTal Almagor, Shoshana Rath, Dan Nachtigal, et al.Journal of Genetic Counseling|September 16, 2015
Patients' Attitudes Towards Disclosure of Genetic Test Results to Family Members: The Impact of Patients' Sociodemographic Background and Counseling ExperienceRoy Gilbar, Stavit Shalev, Ronen Spiegel, et al.Translational Psychiatry|July 6, 2023
Early maturation and hyperexcitability is a shared phenotype of cortical neurons derived from different ASD-associated mutationsYara Hussein, Utkarsh Tripathi, Ashwani Choudhary, et al.American Journal of Human Genetics|March 13, 2012
Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2Ronen Spiegel, Ophry Pines, Asaf Ta-Shma, et al.Metabolic Brain Disease|January 15, 2019
Severe infantile epileptic encephalopathy associated with D-glyceric aciduria: report of a novel case and reviewYoav Zehavi, Hanna Mandel, Ayelet Eran, et al.Journal of Inherited Metabolic Disease|April 17, 2024
Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficienciesBernd C Schwahn, Francjan van Spronsen, Albert Misko, et al.European Journal of Human Genetics : EJHG|January 16, 2014
Delineation of C12orf65-related phenotypes: a genotype-phenotype relationshipRonen Spiegel, Hanna Mandel, Ann Saada, et al.American Journal of Medical Genetics. Part A|February 12, 2009
The clinical spectrum of fetal Niemann-Pick type CRonen Spiegel, Annick Raas-Rothschild, Orit Reish, et al.Pageof 11