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1دورية أكاديمية
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101784- (2024)
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Jing Wang, Ada Chan, James Peterson, Kathleen Wood, Maria Alejandra Diaz-Miranda, Archana Tara, Amy Goldstein, Zarazuela Zolkipli-Cunningham, Elizabeth M. McCormick, Colleen Muraresku, Matthew Dulik, Douglas Wallace, Marni Falk
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100628- (2023)
وصف الملف: electronic resource
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المؤلفون: Donna DiVito, Amanda Wellik, Jessica Burfield, James Peterson, Jean Flickinger, Alyssa Tindall, Kimberly Albanowski, Shailee Vishnubhatt, Laura MacMullen, Isaac Martin, Colleen Muraresku, Elizabeth McCormick, George Ibrahim-Sankoh, Shana McCormack, Amy Goldstein, Rebecca Ganetzky, Marc Yudkoff, Rui Xiao, Marni J. Falk, Maria Mascarenhas, Zarazuela Zolkipli-Cunningham
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0173c631fb7c9d96b4e745092e724997
https://doi.org/10.21203/rs.3.rs-2666831/v1 -
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المؤلفون: Rita Pinto-Costa, Kaining Hu, Xiangbin Ruan, Marni J. Falk, Christopher A. Walsh, Caleb Bupp, Christina Fagerberg, Charlotte Brasch-Andersen, Mónica Mendes Sousa, Lars Kjærsgaard Hansen, Pedro Brites, Cai Qi, Colleen Muraresku, Rebecca D. Ganetzky, Oana Caluseriu, Irena Feng, Dong Li, Rong Zhong, Robert Sean Hill, Jennifer E. Neil, Bowei Kang, Xiaochang Zhang, Ana Costa, Elizabeth J. Bhoj, Kristopher T. Kahle, Hakon Hakonarson
المصدر: Qi, C, Feng, I, Costa, A R, Pinto-Costa, R, Neil, J E, Caluseriu, O, Li, D, Ganetzky, R D, Brasch-Andersen, C, Fagerberg, C, Hansen, L K, Bupp, C, Muraresku, C C, Ruan, X, Kang, B, Hu, K, Zhong, R, Brites, P, Bhoj, E J, Hill, R S, Falk, M J, Hakonarson, H, Kahle, K T, Sousa, M M, Walsh, C A & Zhang, X 2022, ' Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 24, no. 2, pp. 319-331 . https://doi.org/10.1016/j.gim.2021.09.014
Genet Medمصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Corpus Callosum Dysgenesis, DNA Copy Number Variations, business.industry, medicine.disease, Article, Mice, Phenotype, Intellectual Disability, Intellectual disability, medicine, Animals, Humans, Agenesis of Corpus Callosum, business, Genetics (clinical), Hydrocephalus, Ventriculomegaly
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f6b2c935fe6ca940ff920a6ec4f1391
https://doi.org/10.1016/j.gim.2021.09.014 -
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المؤلفون: James T Peterson, Zarazuela Zolkipli-Cunningham, Marni J. Falk, Laura E. MacMullen, Jean Flickinger, Jennifer Gornish, Allan M. Glanzman, Richard H. Haas, Sara Nguyen, Amy Goldstein, Amanda Wellik, Ibrahim George-Sankoh, Michael G. McBride, Shailee Vishnubhatt, Colleen Muraresku, Rebecca D. Ganetzky, Elizabeth M. McCormick, Kristin Leonhardt, Elizabeth Ballance, Jiaxin Fan, Rui Xiao, Brianna Soreth
المصدر: JCSM Clinical Reports. 6:109-127
مصطلحات موضوعية: medicine.medical_specialty, Physical medicine and rehabilitation, Mitochondrial myopathy, Muscle fatigue, business.industry, Outcome measures, Medicine, Muscle weakness, Exercise intolerance, medicine.symptom, business, medicine.disease
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المؤلفون: Katherine M. Szigety, Terrence B. Crowley, Kimberly B. Gaiser, Erin Y. Chen, Jessica R.C. Priestley, Lydia S. Williams, Sneha A. Rangu, Christina M. Wright, Priyanka Adusumalli, Rebecca C. Ahrens-Nicklas, Brandon Calderon, Sanmati R. Cuddapah, Andrew Edmondson, Can Ficicioglu, Rebecca Ganetzky, Jennifer M. Kalish, Ian D. Krantz, Donna M. McDonald-McGinn, Livija Medne, Colleen Muraresku, Louise C. Pyle, Elaine H. Zackai, Ian M. Campbell, Sarah E. Sheppard
المصدر: Pediatrics
مصطلحات موضوعية: Treatment Outcome, Patient Satisfaction, Surveys and Questionnaires, Pediatrics, Perinatology and Child Health, Humans, Child, Article, Telemedicine, Retrospective Studies
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e6030b04c1f9177c6330ada1ca62678
https://doi.org/10.1542/peds.2021-054520 -
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المؤلفون: Mythily Ganapathi, Gaelle Friocourt, Naig Gueguen, Marisa W. Friederich, Gerald Le Gac, Volkan Okur, Nadège Loaëc, Thomas Ludwig, Chandran Ka, Kurenai Tanji, Pascale Marcorelles, Evangelos Theodorou, Angela Lignelli‐Dipple, Cécile Voisset, Melissa A. Walker, Lauren C. Briere, Amélie Bourhis, Marc Blondel, Charles LeDuc, Jacob Hagen, Cathleen Cooper, Colleen Muraresku, Claude Ferec, Armelle Garenne, Servane Lelez‐Soquet, Cassandra A. Rogers, Yufeng Shen, Dana K. Strode, Peyman Bizargity, Alejandro Iglesias, Amy Goldstein, Frances A. High, Undiagnosed Diseases Network, David A. Sweetser, Rebecca Ganetzky, Johan L. K. Van Hove, Vincent Procaccio, Cedric Le Marechal, Wendy K. Chung
المصدر: Journal of inherited metabolic disease. 45(5)
مصطلحات موضوعية: Brain Diseases, DNA, Complementary, Mutation, Genetics, Humans, Proteins, Leigh Disease, Mitochondrial Proton-Translocating ATPases, Genetics (clinical), Mitochondria
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المؤلفون: Brett Barrett, Sarah E Sheppard, Diva D. De León, Colleen Muraresku, Rebecca D. Ganetzky, Katherine Lord, Heather McKnight
المصدر: American Journal of Medical Genetics Part A. 185:566-570
مصطلحات موضوعية: Phenocopy, Pediatrics, medicine.medical_specialty, Coloboma, business.industry, medicine.disease, Maturity onset diabetes of the young, Hypophosphatemic Rickets, Genetics, medicine, Missense mutation, Differential diagnosis, Family history, business, Hyperinsulinism, Genetics (clinical)
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المؤلفون: Amy Goldstein, K Taylor Wild, Rebecca D. Ganetzky, Colleen Muraresku
المصدر: Am J Med Genet A
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Mitochondrial DNA, Mitochondrial Diseases, Kearns-Sayre Syndrome, First year of life, DNA, Mitochondrial, Lipid Metabolism, Inborn Errors, Article, Kearns–Sayre syndrome, Muscular Diseases, Sideroblastic anemia, Genetics, medicine, Congenital Bone Marrow Failure Syndromes, Humans, Child, Exocrine pancreatic insufficiency, Genetics (clinical), Sequence Deletion, Pearson syndrome, business.industry, Infant, medicine.disease, Phenotype, Anemia, Sideroblastic, Mitochondria, Mitochondrial respiratory chain, Child, Preschool, Exocrine Pancreatic Insufficiency, Female, business, Gene Deletion
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المؤلفون: Elizabeth M. McCormick, Fabrício Guimarães Gonçalves, Francesco Lo Russo, Marni J. Falk, Zarazuela Zolkipli-Cunningham, Colleen Muraresku, Giulio Zuccoli, Sara Reis Teixeira, Arastoo Vossough, César Augusto Pinheiro Ferreira Alves, Rebecca D. Ganetzky, Juan Sebastian Martin-Saavedra, Amy Goldstein
المصدر: Annals of Neurology. 89:631-633
مصطلحات موضوعية: Neurology, Neuroimaging, business.industry, MEDLINE, Medicine, Neurology (clinical), business, Bioinformatics