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W Yue

Showing results (221-230 of 254) with videos related to

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Journal of Inherited Metabolic Disease|June 10, 2019
Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiencyIna Knerr, Roberto Colombo, Jill Urquhart, et al.
Chemistry & Biology|December 22, 2015
Human ISPD Is a Cytidyltransferase Required for Dystroglycan O-MannosylationMoniek Riemersma, D Sean Froese, Walinka van Tol, et al.
Molecular Genetics and Metabolism|December 3, 2014
Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutationsSiddharth Banka, Christian de Goede, Wyatt W Yue, et al.
Orphanet Journal of Rare Diseases|November 28, 2018
Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemiaMinela Haskovic, Britt Derks, Liesbeth van der Ploeg, et al.
Annals of the Rheumatic Diseases|January 21, 2014
Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesisSiddharth Banka, Stuart A Cain, Sabrya Carim, et al.
Brain : a Journal of Neurology|July 3, 2015
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathiesKatsiaryna Belaya, Pedro M Rodríguez Cruz, Wei Wei Liu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 30, 2019
The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiencyNandaki Keshavan, Jose Abdenur, Glenn Anderson, et al.
Clinical Genetics|March 13, 2016
Expanding the genotypic spectrum of Perrault syndromeL A M Demain, J E Urquhart, J O'Sullivan, et al.
Blood|March 4, 2010
Selective inhibition of IDO1 effectively regulates mediators of antitumor immunityXiangdong Liu, Niu Shin, Holly K Koblish, et al.
Frontiers in Genetics|July 11, 2022
Expanding the <i>HPSE2</i> Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary BladderGlenda M Beaman, Filipa M Lopes, Aybike Hofmann, et al.
Pageof 26

Showing results (221-230 of 254) with videos related to

Sort By:
Pageof 26
Journal of Inherited Metabolic Disease|June 10, 2019
Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiencyIna Knerr, Roberto Colombo, Jill Urquhart, et al.
Chemistry & Biology|December 22, 2015
Human ISPD Is a Cytidyltransferase Required for Dystroglycan O-MannosylationMoniek Riemersma, D Sean Froese, Walinka van Tol, et al.
Molecular Genetics and Metabolism|December 3, 2014
Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutationsSiddharth Banka, Christian de Goede, Wyatt W Yue, et al.
Orphanet Journal of Rare Diseases|November 28, 2018
Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemiaMinela Haskovic, Britt Derks, Liesbeth van der Ploeg, et al.
Annals of the Rheumatic Diseases|January 21, 2014
Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesisSiddharth Banka, Stuart A Cain, Sabrya Carim, et al.
Brain : a Journal of Neurology|July 3, 2015
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathiesKatsiaryna Belaya, Pedro M Rodríguez Cruz, Wei Wei Liu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 30, 2019
The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiencyNandaki Keshavan, Jose Abdenur, Glenn Anderson, et al.
Clinical Genetics|March 13, 2016
Expanding the genotypic spectrum of Perrault syndromeL A M Demain, J E Urquhart, J O'Sullivan, et al.
Blood|March 4, 2010
Selective inhibition of IDO1 effectively regulates mediators of antitumor immunityXiangdong Liu, Niu Shin, Holly K Koblish, et al.
Frontiers in Genetics|July 11, 2022
Expanding the <i>HPSE2</i> Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary BladderGlenda M Beaman, Filipa M Lopes, Aybike Hofmann, et al.
Pageof 26