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European Journal of Medical Genetics|March 11, 2020
Clues and challenges in the diagnosis of intermittent maple syrup urine diseaseNaomi Pode-Shakked, Stanley H Korman, Ben Pode-Shakked, et al.Blood|April 20, 2013
The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancyPolina Stepensky, Ann Saada, Marianne Cowan, et al.The Journal of Clinical Endocrinology and Metabolism|December 31, 2021
PNC2 (SLC25A36) Deficiency Associated With the Hyperinsulinism/Hyperammonemia SyndromeMaher A Shahroor, Francesco M Lasorsa, Vito Porcelli, et al.Journal of Medical Genetics|February 9, 2013
Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporterSimon Edvardson, Vito Porcelli, Chaim Jalas, et al.American Journal of Human Genetics|August 5, 2017
Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi DysfunctionMiroslav P Milev, Megan E Grout, Djenann Saint-Dic, et al.American Journal of Human Genetics|June 11, 2019
Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile EncephalopathyBoris Fichtman, Tamar Harel, Nitzan Biran, et al.American Journal of Human Genetics|August 5, 2017
Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in ChildhoodSimon Edvardson, Claudia M Nicolae, Pankaj B Agrawal, et al.Journal of Medical Genetics|November 13, 2015
Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutationRonen Spiegel, Ann Saada, Padraig J Flannery, et al.American Journal of Human Genetics|October 13, 2006
Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTsJan A M Smeitink, Orly Elpeleg, Hana Antonicka, et al.JAMA Neurology|May 7, 2014
Severe methylenetetrahydrofolate reductase deficiency: clinical clues to a potentially treatable cause of adult-onset hereditary spastic paraplegiaAlexander Lossos, Omri Teltsh, Tsipi Milman, et al.Pageof 10