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Molecular Genetics and Metabolism|May 22, 2012
McArdle disease: a novel mutation in Jewish families from the Caucasus regionYishai Haimi Cohen, Nechama Shalva, Tal Markus-Eidlitz, et al.Molecular Genetics and Metabolism|March 31, 2010
OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondriaMarjan Huizing, Heidi Dorward, Lien Ly, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|May 17, 2011
Quantification of human serum procollagen C-proteinase enhancer (hsPCPE) glycopatternYael Olswang-Kuz, Boaz Liberman, Israel Weiss, et al.Clinical Endocrinology|June 11, 2009
Clinical and genetic heterogeneity of congenital adrenal hypoplasia due to NR0B1 gene mutationsZohar Landau, Aaron Hanukoglu, Joseph Sack, et al.Clinical Genetics|October 19, 2024
Biallelic PIGM Coding Variant Causes Intractable Epilepsy and Intellectual Disability Without Thrombotic EventsGali Heimer, Ben Pode-Shakked, Dina Marek-Yagel, et al.Molecular Syndromology|February 28, 2022
What Can We Learn from the Parents of Children Affected with Mucopolysaccharidosis Type III-A in Israel?Shiri Liber, Orna Staretz-Chacham, Mor Kishon, et al.American Journal of Medical Genetics. Part A|June 10, 2003
Biochemical and molecular analyses of infantile free sialic acid storage disease in North American childrenRobert Kleta, David J Aughton, Michael J Rivkin, et al.Journal of Clinical Immunology|October 14, 2016
A Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF)Erez Rechavi, Atar Lev, Eran Eyal, et al.American Journal of Human Genetics|June 12, 2002
Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5AYair Anikster, Marjan Huizing, Paul D Anderson, et al.Nephron. Physiology|August 19, 2011
Familial autosomal recessive renal tubular acidosis: importance of early diagnosisAsaf Vivante, Danny Lotan, Naomi Pode-Shakked, et al.Pageof 14