نتائج البحث - "Elizabeth K. Schorry"

المصدر: Genetics in Medicine, 21(4), 867-876. Lippincott Williams & Wilkins
Genetics in medicine : official journal of the American College of Medical Genetics, vol 21, iss 4
GENETICS IN MEDICINE
Genetics in Medicine

مصطلحات موضوعية: 0301 basic medicine, Male, CHILDREN, 030105 genetics & heredity, GUIDELINES, neurofibroma, Correlation, Medicine and Health Sciences, Type 1 Neurofibromatosis, Neurofibroma, Child, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), learning difficulties, Genetics (clinical), Sequence Deletion, Genetics, Pediatric, Genetics & Heredity, Neurofibromin 1, Learning Disabilities, ASSOCIATION, genotype–phenotype correlation, Plexiform, Child, Preschool, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, NERVE SHEATH TUMORS, Female, p.Met992del, Adult, congenital, hereditary, and neonatal diseases and abnormalities, Heterozygote, VONRECKLINGHAUSEN NEUROFIBROMATOSIS, Neurofibromatosis 1, Adolescent, Clinical Sciences, Mutation, Missense, Biology, genotype-phenotype correlation, Article, Genotype phenotype, Neurofibromatosis, 03 medical and health sciences, Young Adult, Rare Diseases, Clinical Research, medicine, Humans, Genetic Predisposition to Disease, Clinical phenotype, Preschool, Gene, neoplasms, Genetic Association Studies, Neurofibroma, Plexiform, MUTATIONS, OPTIC PATHWAY TUMORS, Neurosciences, Correction, Biology and Life Sciences, Infant, SOUTH EAST WALES, medicine.disease, NOONAN SYNDROME, nervous system diseases, Brain Disorders, 030104 developmental biology, NF1, Mutation, Noonan syndrome, TYPE-1 NEUROFIBROMATOSIS, Missense

وصف الملف: Print-Electronic; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d2d562e93f2c1ec9bece7f0d68c99acTest
https://lirias.kuleuven.be/handle/123456789/627148Test

6

Substantial pain burden in frequency, intensity, interference and chronicity among children and adults with neurofibromatosis Type 1

المؤلفون: Christopher D. King, Geraldine Kelly-Mancuso, Lisa J. Martin, Alanna M. Kongkriangkai, Elizabeth K. Schorry, Carlos E. Prada, Emily Wakefield

المصدر: American journal of medical genetics. Part A. 179(4)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1a2b68acb2c3fd930c652880cd4c7b5Test
https://pubmed.ncbi.nlm.nih.gov/30737893Test

7

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

المؤلفون: Antonio Barrientos, Kristen L. Sund, Julia E. Dallman, Adriana P. Rebelo, Stephan Züchner, Zubair M. Ahmed, Xinjian Wang, Claudia Zanna, Andrea H. Németh, Leonardo Caporali, Carlos E. Prada, Neville Patel, Ion J. Campeanu, Feifei Tao, Susan M. Downes, Laura Krueger, Alessandra Maresca, Cynthia A. Prows, Anthony Antonellis, Saskia Groenewald, Lisa Abreu, Fiorella Speziani, Alleene V. Strickland, Yaping Yang, Michael A. Gonzalez, Taosheng Huang, Elizabeth K. Schorry, Valerio Carelli, Chiara La Morgia, Rebecca Schüle, Flavia Fontanesi, Laurie B. Griffin, Alexander J. Abrams, Robert B. Hufnagel, Jeffery Prince, Rocco Liguori, Raffaele Lodi, Omar A. Abdul-Rahman, Holly H. Zimmerman, Yanyan Peng

المساهمون: Abrams, A.J., Hufnagel, R.B., Rebelo, A., Zanna, C., Patel, N., Gonzalez, M.A., Campeanu, I.J., Griffin, L.B., Groenewald, S., Strickland, A.V., Tao, F., Speziani, F., Abreu, L., Schule, R., Caporali, L., La Morgia, C., Maresca, A., Liguori, R., Lodi, R., Ahmed, Z.M., Sund, K.L., Wang, X., Krueger, L.A., Peng, Y., Prada, C.E., Prows, C.A., Schorry, E.K., Antonellis, A., Zimmerman, H.H., Abdul-Rahman, O.A., Yang, Y., Downes, S.M., Prince, J., Fontanesi, F., Barrientos, A., Nemeth, A.H., Carelli, V., Huang, T., Zuchner, S., Dallman, J.E.

المصدر: Europe PubMed Central
Nature genetics 47(8), 926-932 (2015). doi:10.1038/ng.3354
Nature genetics

مصطلحات موضوعية: Male, Embryo, Nonmammalian, MFN2, Muscle Proteins, IMMT protein, human, DOA, genetics [Muscle Proteins], medicine.disease_cause, Animals, Genetically Modified, pathology [Optic Atrophy, Autosomal Dominant], metabolism [Optic Atrophy, Autosomal Dominant], 0302 clinical medicine, Charcot-Marie-Tooth Disease, Chlorocebus aethiops, genetics [Phosphate Transport Proteins], genetics [Exome], Phosphate Transport Proteins, Exome, metabolism [Zebrafish], genetics [Genetic Predisposition to Disease], embryology [Embryo, Nonmammalian], Zebrafish, Genetics, 0303 health sciences, Mutation, Microscopy, Confocal, biology, Pedigree, genetics [Membrane Proteins], xonal peripheral neuropathy, mitochondrial fusion, Mitochondrial Membranes, COS Cells, Female, genetics [Mitochondrial Proteins], RNA Interference, genetics [Charcot-Marie-Tooth Disease], Protein Binding, UGO1 protein, S cerevisiae, metabolism [Embryo, Nonmammalian], Saccharomyces cerevisiae Proteins, Dominant optic atrophy, Charcot-Marie-Tooth type 2, CMT2, metabolism [Muscle Proteins], genetics [Optic Atrophy, Autosomal Dominant], metabolism [Phosphate Transport Proteins], Article, ultrastructure [Embryo, Nonmammalian], metabolism [Mitochondrial Proteins], Mitochondrial Proteins, 03 medical and health sciences, Atrophy, Microscopy, Electron, Transmission, ddc:570, Optic Atrophy, Autosomal Dominant, metabolism [Mitochondrial Membranes], medicine, Animals, Humans, Inner membrane, Genetic Predisposition to Disease, Hereditary Neurodegenerative Disorder, genetics [Saccharomyces cerevisiae Proteins], 030304 developmental biology, Membrane Proteins, Sequence Analysis, DNA, metabolism [Saccharomyces cerevisiae Proteins], biology.organism_classification, medicine.disease, eye diseases, HEK293 Cells, metabolism [Charcot-Marie-Tooth Disease], Membrane protein, embryology [Zebrafish], hereditary neurodegenerative disorder, metabolism [Membrane Proteins], 030217 neurology & neurosurgery, SLC25A46 protein, human