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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.
Cell Stem Cell|October 3, 2009
Directed differentiation of human embryonic stem cells into functional retinal pigment epithelium cellsMaria Idelson, Ruslana Alper, Alexey Obolensky, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|February 5, 2009
The expression of three genes in primary non-small cell lung cancer is associated with metastatic spread to the brainHelena Grinberg-Rashi, Efrat Ofek, Marina Perelman, et al.
Journal of Inherited Metabolic Disease|July 3, 2016
Expanding the molecular diversity and phenotypic spectrum of glycerol 3-phosphate dehydrogenase 1 deficiencyCarlo Dionisi-Vici, Eyal Shteyer, Marcello Niceta, et al.
The Journal of Clinical Investigation|January 17, 2014
Changes in neural network homeostasis trigger neuropsychiatric symptomsAline Winkelmann, Nicola Maggio, Joanna Eller, et al.
American Journal of Hematology|November 25, 2003
MYH9 spectrum of autosomal-dominant giant platelet syndromes: unexpected association with fibulin-1 variant-D inactivationAmos Toren, Galit Rozenfeld-Granot, Karen E Heath, et al.
Cell Research|January 13, 2018
Whole-genome sequencing reveals principles of brain retrotransposition in neurodevelopmental disordersJasmine Jacob-Hirsch, Eran Eyal, Binyamin A Knisbacher, et al.
Nucleic Acids Research|June 22, 2021
Deep and accurate detection of m6A RNA modifications using miCLIP2 and m6Aboost machine learningNadine Körtel, Cornelia Rücklé, You Zhou, et al.
Molecular Therapy. Nucleic Acids|February 3, 2025
Personalized allele-specific antisense oligonucleotides for GNAO1-neurodevelopmental disorderInna Shomer, Nofar Mor, Shaul Raviv, et al.
Human Molecular Genetics|September 10, 2005
Impaired genomic stability and increased oxidative stress exacerbate different features of Ataxia-telangiectasiaShelly Ziv, Ori Brenner, Ninette Amariglio, et al.
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