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Cell Metabolism|June 2, 2026
Is an emerging pharmacotherapeutic era for rare mitochondrial diseases here?Jirair K Bedoyan, Jerry VockleyJournal of Chemical Information and Modeling|July 7, 2022
Simulations of Pathogenic E1α Variants: Allostery and Impact on Pyruvate Dehydrogenase Complex-E1 Structure and FunctionHatice Gokcan, Jirair K Bedoyan, Olexandr IsayevJournal of Inherited Metabolic Disease|January 17, 2022
Solvent accessibility of E1α and E1β residues with known missense mutations causing pyruvate dehydrogenase complex (PDC) deficiency: Impact on PDC-E1 structure and functionNicole H Ducich, Jason A Mears, Jirair K BedoyanEuropean Journal of Medical Genetics|December 27, 2008
First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndromeJirair K Bedoyan, Michael J Friez, Barbara DuPont, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|February 16, 2021
Novel presentations associated with a PDHA1 variant - Alternating hemiplegia in Hemizygote proband and Guillain Barre Syndrome in Heterozygote motherKuntal Sen, George Grahame, Jirair K Bedoyan, et al.Head & Neck|June 4, 2013
Novel DICER1 mutation as cause of multinodular goiter in childrenIlaaf Darrat, Jirair K Bedoyan, Ming Chen, et al.Molecular Genetics and Metabolism|September 18, 2017
Enzymatic testing sensitivity, variability and practical diagnostic algorithm for pyruvate dehydrogenase complex (PDC) deficiencyHa Kyung Shin, George Grahame, Shawn E McCandless, et al.Pediatric Surgery International|April 6, 2004
Congenital diaphragmatic hernia: associated anomalies and antenatal diagnosis. Outcome-related variables at two Detroit hospitalsJirair K Bedoyan, Sean C Blackwell, Marjorie C Treadwell, et al.American Journal of Medical Genetics. Part A|August 25, 2004
Transmission of ring chromosome 13 from a mother to daughter with both having a 46,XX, r(13)(p13q34) karyotypeJirair K Bedoyan, Leigh Anne Flore, Aziz Alkatib, et al.Pediatric Neurology|January 8, 2013
Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiencyShane C Quinonez, Steven M Leber, Donna M Martin, et al.Pageof 4