-
1دورية أكاديمية
المؤلفون: Kelsey O’Hagan-Wong, Dana Smith, Hernan Gonorazky, Michael Casas
المصدر: Frontiers in Dental Medicine, Vol 4 (2023)
مصطلحات موضوعية: pediatric dentistry, congenital insensitivity to pain, hereditary sensory autonomic neuropathy, tongue ulceration, bifid deformity of the tongue, Dentistry, RK1-715
وصف الملف: electronic resource
-
2دورية أكاديمية
المؤلفون: Elisa Nigro, Eyal Grunebaum, Binita Kamath, Christoph Licht, Caroline Malcolmson, Aamir Jeewa, Craig Campbell, Hugh McMillan, Pranesh Chakraborty, Mark Tarnopolsky, Hernan Gonorazky
المصدر: Frontiers in Neurology, Vol 14 (2023)
مصطلحات موضوعية: spinal muscular atrophy, preterm, newborn screening, gene therapy, Zolgensma, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
-
3دورية أكاديمية
المؤلفون: Jessica X. Chong, Matthew Carter Childers, Colby T. Marvin, Anthony J. Marcello, Hernan Gonorazky, Lili-Naz Hazrati, James J. Dowling, Fatema Al Amrani, Yasemin Alanay, Yolanda Nieto, Miguel Á Marín Gabriel, Arthur S. Aylsworth, Kati J. Buckingham, Kathryn M. Shively, Olivia Sommers, Kailyn Anderson, Michael Regnier, Michael J. Bamshad
المصدر: HGG Advances, Vol 4, Iss 3, Pp 100213- (2023)
مصطلحات موضوعية: exome sequencing, Mendelian disease, Mendelian disorder, congenital contractures, distal arthrogryposis, cardiomyopathy, Genetics, QH426-470
وصف الملف: electronic resource
-
4دورية أكاديمية
المؤلفون: Neal Sondheimer, Alberto Aleman, Jessie Cameron, Hernan Gonorazky, Nesrin Sabha, Paula Oliveira, Kimberly Amburgey, Azizia Wahedi, Dahai Wang, Michael Shy, James J. Dowling.
المصدر: HGG Advances, Vol 4, Iss 2, Pp 100182- (2023)
مصطلحات موضوعية: PCK2, peripheral neuropathy, mitochondria, neurogenetic, Genetics, QH426-470
وصف الملف: electronic resource
-
5دورية أكاديمية
المؤلفون: Marina DiStefano, Ryan Webb, Hannah McCurry, Shannon McNulty Gray, Swati Tomar, Prasad Kopparapu, Eleanor Broeren, Kezang Tshering, Alan Beggs, Enrico Silvio Bertini, Adele D'Amico, Sandra Donkervoort, James Dowling, Fabiana Fattori, Ana Ferreiro, Casie Genetti, Hernan Gonorazky, Svetlana Gorokhova, Amanda Lindy, Livija Medne, Sander Pajusalu, Katarina Pelin, John Rendu, Matteo Vatta, Tom Winder, Hui Yang, Grace Yoon, Ozge Ceyhan-Birsoy, Carsten Bönnemann
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100499- (2023)
وصف الملف: electronic resource
-
6دورية أكاديمية
المؤلفون: Whiwon Lee, Gregory Costain, Susan Blaser, Susan Walker, Christian R. Marshall, Hernan Gonorazky, Michal Inbar-Feigenberg
المصدر: Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100664- (2020)
مصطلحات موضوعية: PEX3, Peroxisome biogenesis disorder, Zellweger spectrum disorder, Genome sequencing, Genetic testing, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
-
7
المصدر: Movement Disorders Clinical Practice. 10:707-709
مصطلحات موضوعية: Neurology, Neurology (clinical)
-
8
المؤلفون: Issa Alawneh, Ana Stosic, Hernan Gonorazky
المصدر: Journal of Neurology.
مصطلحات موضوعية: Neurology, Neurology (clinical)
-
9
المؤلفون: Issa Alawneh, Kimberly Amburgey, Grace Yoon, James J Dowling, Lili-Naz Hazrati, Hernan Gonorazky
المصدر: Neuromuscular Disorders.
مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
-
10
المؤلفون: Maryam Oskoui, Kathy Selby, David Herzig, Katrina Cardiff, Niamh Cushen, Yan Defosses, Hernan Gonorazky, Juergen Gottowik, Renee Haldenby, Ivan Jurisic, Shaainthabie Karthigesu, Leigh MacIntyre, Alex MacKenzie, Jean Mah, James McCullough, Pamela Ng, Slawomir Opalka, Michal Openchowski, Svetlana Petkun, Beth Potter, Jordan Sheriko, Maureen Smith, Martin Strahm, Sarah Turgeon Desilets, Angelina Woof, Xing Chen
المصدر: Tuesday, April 25.
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ed1840a604381cebc89458e8af4dec52
https://doi.org/10.1212/wnl.0000000000203145