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Molecular Genetics and Metabolism|August 15, 2002
Hypocarnitinemia in lysinuric protein intoleranceStanley H Korman, Annick Raas-Rothschild, Orly Elpeleg, et al.
American Journal of Human Genetics|March 2, 2002
A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parentsAnnick Raas-Rothschild, Ronald J A Wanders, Petra A W Mooijer, et al.
Journal of the Neurological Sciences|February 5, 2004
Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian familyStanley H Korman, Naomi Kanazawa, Bassam Abu-Libdeh, et al.
Molecular Genetics and Metabolism|October 25, 2011
Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencingItai Berger, Ziva Ben-Neriah, Talia Dor-Wolman, et al.
Molecular Genetics and Metabolism|September 9, 2005
Novel metabolic and molecular findings in hepatic carnitine palmitoyltransferase I deficiencyStanley H Korman, Hans R Waterham, Alisa Gutman, et al.
Molecular Genetics and Metabolism|June 3, 2004
Homozygosity for a severe novel medium-chain acyl-CoA dehydrogenase (MCAD) mutation IVS3-1G > C that leads to introduction of a premature termination codon by complete missplicing of the MCAD mRNA and is associated with phenotypic diversity ranging from sudden neonatal death to asymptomatic statusStanley H Korman, Alisa Gutman, Rivka Brooks, et al.
European Journal of Medical Genetics|April 11, 2017
Elucidating the behavioral phenotype of patients affected with mucolipidosis IV: What can we learn from the parents?Perri Segal, Ben Pode-Shakked, Annick Raas-Rothschild
Journal of Molecular Neuroscience : MN|January 30, 2020
Ethical Dilemmas Linked to Fragile X Testing of Minors-a Preliminary Survey Among ProfessionalsLidia V Gabis, Shahar Shefer, Annick Raas-Rothschild
Annals of Neurology|January 13, 2006
Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutationStanley H Korman, Isaiah D Wexler, Alisa Gutman, et al.
Prenatal Diagnosis|November 27, 2004
Prenatal diagnosis for arginase deficiency by second-trimester fetal erythrocyte arginase assay and first-trimester ARG1 mutation analysisStanley H Korman, Alisa Gutman, Edia Stemmer, et al.
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