অনুসন্ধান ফলাফলগুলি - Geralyn Creadon‐Swindell
- প্রদর্শন 1 - 6 ফলাফল এর 6
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Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia অনুযায়ী Michael A. Swanson, Curtis R. Coughlin, Gunter Scharer, Heather Szerlong, Kendra Bjoraker, Elaine Spector, Geralyn Creadon‐Swindell, Vincent Mahieu, Gert Matthijs, Julia B. Hennermann, Derek A. Applegarth, Jennifer R. Toone, Suhong Tong, Kristina Williams, Johan L.K. Van Hove
প্রকাশিত 2015Artigo -
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Mutations in the mitochondrial cysteinyl-tRNA synthase gene,<i>CARS2,</i>lead to a severe epileptic encephalopathy and complex movement disorder অনুযায়ী Curtis R. Coughlin, Gunter Scharer, Marisa W. Friederich, Hung‐Chun Yu, Elizabeth A. Geiger, Geralyn Creadon‐Swindell, Abigail E. Collins, Arnaud Vanlander, Rudy Van Coster, Christopher A. Powell, Michael A. Swanson, Michal Minczuk, Johan L.K. Van Hove, Tamim H. Shaikh
প্রকাশিত 2015Artigo -
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Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia অনুযায়ী Kendra Bjoraker, Michael A. Swanson, Curtis R. Coughlin, John Christodoulou, Ee Shien Tan, Mark Fergeson, Sarah Dyack, Ayesha Ahmad, Marisa W. Friederich, Elaine Spector, Geralyn Creadon‐Swindell, Marie Antoinette Redoblado-Hodge, Sommer Gaughan, Casey Burns, Johan L.K. Van Hove
প্রকাশিত 2015Artigo -
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The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT অনুযায়ী Curtis R. Coughlin, Michael A. Swanson, Kathryn E. Kronquist, Cécile Acquaviva, Tim Hutchin, Pilar Rodríguez‐Pombo, Marja-Leena Väisänen, Elaine Spector, Geralyn Creadon‐Swindell, Ana M. Brás-Goldberg, Elisa Rahikkala, Jukka S. Moilanen, Vincent Mahieu, Gert Matthijs, Irene Bravo‐Alonso, Celia Pérez‐Cerdá, Magdalena Ugarte, Christine Vianey‐Saban, Gunter Scharer, Johan L.K. Van Hove
প্রকাশিত 2016Artigo -
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Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5 অনুযায়ী Peter R. Baker, Marisa W. Friederich, Michael A. Swanson, Tamim H. Shaikh, Kaustuv Bhattacharya, Gunter Scharer, Joseph K. Aicher, Geralyn Creadon‐Swindell, Elizabeth A. Geiger, Kenneth N. Maclean, Wang‐Tso Lee, Charu Deshpande, Mary-Louise Freckmann, Ling-Yu Shih, Melissa Wasserstein, Malene Bøgehus Rasmussen, Allan M. Lund, Peter Procopis, Jessie M. Cameron, Brian H. Robinson, Garry K. Brown, Ruth M. Brown, Alison G. Compton, Carol L. Dieckmann, Renata Collard, Curtis R. Coughlin, Elaine Spector, Michael F. Wempe, Johan L.K. Van Hove
প্রকাশিত 2013Artigo
অনুসন্ধান সাধনীগুলি:
সম্পর্কিত বিষয়
Biology
Gene
Genetics
Medicine
Amino acid
Glycine
Hyperglycinemia
Internal medicine
Missense mutation
Mutation
Allele
Endocrinology
Genotype
Leigh disease
Molecular biology
Pediatrics
Allele frequency
Aminoacyl tRNA synthetase
Anesthesia
Compound heterozygosity
Developmental psychology
Dextromethorphan
Environmental health
Epilepsy
Exome
Exome sequencing
Exon
Gene duplication
Glycine cleavage system
Mitochondrial DNA