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American Journal of Medical Genetics. Part A|November 26, 2009
A new autosomal recessive syndrome characterized by ocular hypertelorism, distinctive face, mental retardation, brachydactyly, and genital abnormalitiesRonen Spiegel, Yoseph Horovitz, Hartmut Peters, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|July 27, 2005
Secondary diabetes mellitus: late complication of glycogen storage disease type 1bRonen Spiegel, Yardena Rakover-Tenenbaum, Hanna Mandel, et al.Neuromuscular Disorders : NMD|January 23, 2009
Myopathic form of phosphoglycerate kinase (PGK) deficiency: a new case and pathogenic considerationsRonen Spiegel, Estela Area Gomez, Hasan O Akman, et al.American Journal of Medical Genetics. Part A|October 4, 2011
Clinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutationsRonen Spiegel, Angus Dobbie, Corina Hartman, et al.Molecular Genetics and Metabolism Reports|July 11, 2022
A favorable outcome in an infantile-onset Pompe patient with cross reactive immunological material (CRIM) negative disease with high dose enzyme replacement therapy and adjusted immunomodulationShiri Curelaru, Ankit K Desai, Daniel Fink, et al.Pediatric Dermatology|March 18, 2025
Reactive Infectious Mucocutaneous Eruption Associated With Klebsiella pneumoniaeMira Hamed, Mohammad Sah, Tal Almagor, et al.Metabolic Brain Disease|January 20, 2021
A novel de novo heterozygous pathogenic variant in the SDHA gene results in childhood onset bilateral optic atrophy and cognitive impairmentYoav Zehavi, Ann Saada, Haneen Jabaly-Habib, et al.Stem Cell Research|September 24, 2021
Generation and characterization of iPSC lines from two nuclear envelopathy patients with a homozygous nonsense mutation in the TOR1AIP1 geneYam Ben-Haim, Leah Armon, Boris Fichtman, et al.Journal of Child Neurology|December 9, 2021
Sixth Nerve Palsy in Children Etiology, Long-Term Course, and a Diagnostic AlgorithmFiras Abu Hanna, Haneen Jabaly-Habib, Orly Halachmi-Eyal, et al.The Journal of Clinical Endocrinology and Metabolism|November 9, 2021
Hypocalcemia as the Initial Presentation of Type 2 Bartter Syndrome: A Family ReportShira London, Michael A Levine, Dong Li, et al.Pageof 11