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1دورية أكاديمية
المؤلفون: Elizabeth H. Theng, Carmen C. Brewer, Ralf Oheim, Christopher K. Zalewski, Kelly A. King, Maximillian M. Delsmann, Tim Rolvien, Rachel I. Gafni, Demetrios T. Braddock, H. Jeffrey Kim, Carlos R. Ferreira
المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
مصطلحات موضوعية: Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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2دورية أكاديمية
المؤلفون: Hannah P. Famili, Christopher K. Zalewski, Alaaddin Ibrahimy, Jessica Mack, Fredric Cantor, John D. Heiss, Carmen C. Brewer
المصدر: Journal of Clinical Medicine, Vol 12, Iss 8, p 2767 (2023)
مصطلحات موضوعية: Chiari, Chiari Malformation Type I, vestibular, dizziness, balance, somatosensory, Medicine
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Janet R. Chao, Parna Chattaraj, Tina Munjal, Keiji Honda, Kelly A. King, Christopher K. Zalewski, Wade W. Chien, Carmen C. Brewer, Andrew J. Griffith
المصدر: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-6 (2019)
مصطلحات موضوعية: Deafness, DFNB4, Haplotype, Hearing, Noncoding, Pendred syndrome, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Jenna K. Zalewski, author1, Simone Heber, author1, 2, Joshua H. Mo, author1, Keith O'Conor, author1, Jeffrey D. Hildebrand, author1, Andrew P. VanDemark, author1
المصدر: Journal of Visualized Experiments. (119)
الإتاحة: http://www.jove.com/video/54886
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5
المؤلفون: Flavia M. Facio, Bryn D. Webb, Alan Ma, Christopher Troedson, Irini Manoli, Carmen C. Brewer, Christopher K. Zalewski, Elizabeth C. Engle, Carol Van Ryzin, Audrey Thurm, Paul R. Lee, Timothy James Maarup, Malin Kvarnung, Edmond J. FitzGibbon, Hans Ulrik Møller, Camilo Toro, Scott M. Paul, Glad Ragnhild, Jayne Antony, Omar A. Abdul-Rahman, David G. Hunter, Janice S. Lee, Katrine V. Wirgenes, Dorte Ancher Larsen, Mary C. Whitman, Caroline D. Robson, Wai-Man Chan, Kelly A. King, Tanya J. Lehky, Francis S. Collins, Brenda J. Barry, Sarah MacKinnon, Angela Delaney, Emma Tham, Konstantinia Almpani, Ethylin Wang Jabs
المصدر: Whitman, M C, Barry, B J, Robson, C D, Facio, F M, Van Ryzin, C, Chan, W M, Lehky, T J, Thurm, A, Zalewski, C, King, K A, Brewer, C, Almpani, K, Lee, J S, Delaney, A, FitzGibbon, E J, Lee, P R, Toro, C, Paul, S M, Abdul-Rahman, O A, Webb, B D, Jabs, E W, Moller, H U, Larsen, D A, Antony, J H, Troedson, C, Ma, A, Ragnhild, G, Wirgenes, K V, Tham, E, Kvarnung, M, Maarup, T J, MacKinnon, S, Hunter, D G, Collins, F S, Manoli, I & Engle, E C 2021, ' TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy ', Human Genetics, vol. 140, no. 12, pp. 1709-1731 . https://doi.org/10.1007/s00439-021-02379-9
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Adolescent, Kallmann syndrome, Facial Paralysis, Anterior commissure, Biology, Arginine, Ophthalmoplegia/diagnosis, Young Adult, Ptosis, Tubulin, Hypogonadotropic hypogonadism, Abnormalities, Multiple/genetics, Congenital fibrosis of the extraocular muscles, Genetics, medicine, Humans, Abnormalities, Multiple, Histidine, Child, Facial Paralysis/diagnosis, Peripheral Nervous System Diseases/diagnosis, Genetics (clinical), Ophthalmoplegia, Palsy, Fibrosis/diagnosis, Facial weakness, Infant, Peripheral Nervous System Diseases, Syndrome, medicine.disease, Fibrosis, Peripheral neuropathy, Amino Acid Substitution, Child, Preschool, Mutation, Female, medicine.symptom, Tubulin/genetics
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6دورية أكاديمية
المؤلفون: Debamitra Das, Jenna K. Zalewski, Swarna Mohan, Timothy F. Plageman, Andrew P. VanDemark, Jeffrey D. Hildebrand
المصدر: Biology Open, Vol 3, Iss 9, Pp 850-860 (2014)
مصطلحات موضوعية: Shroom3, Rock, apical constriction, epithelial, neural tube, Science, Biology (General), QH301-705.5
وصف الملف: electronic resource
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7
المؤلفون: Christopher K. Zalewski, Sarah Sydlowski, Simona Bianconi, An Dang Do, Carmen C. Brewer, Kelly A. King, Forbes D. Porter
المصدر: Am J Med Genet A
مصطلحات موضوعية: Adult, Male, Oxidoreductases Acting on CH-CH Group Donors, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Adolescent, Hearing loss, Hearing Loss, Sensorineural, Audiology, Article, Young Adult, Audiometry, Intellectual disability, Evoked Potentials, Auditory, Brain Stem, otorhinolaryngologic diseases, Genetics, medicine, Humans, Genetic Predisposition to Disease, Child, Cochlear Nerve, Auditory Diseases, Central, Genetics (clinical), business.industry, Infant, nutritional and metabolic diseases, medicine.disease, Phenotype, Smith-Lemli-Opitz Syndrome, Conductive hearing loss, Auditory brainstem response, Smith–Lemli–Opitz syndrome, Child, Preschool, Mutation, Cohort, Female, Sensorineural hearing loss, medicine.symptom, business
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8
المؤلفون: Wadih M. Zein, Carmen C. Brewer, Rabia Faridi, Talah T Wafa, Andrew J. Griffith, Julie M. Schultz, Ekaterini Tsilou, Thomas B. Friedman, Amy Turriff, Christopher K. Zalewski, Rizwan Yousaf, Robert J. Morell, Kelly A. King, Julie A. Muskett
المصدر: Clinical Genetics
مصطلحات موضوعية: 0301 basic medicine, Adult, Pathology, medicine.medical_specialty, Adolescent, Usher syndrome, 030105 genetics & heredity, Cohort Studies, 03 medical and health sciences, Young Adult, Genotype, Genetics, medicine, otorhinolaryngologic diseases, Humans, Prospective Studies, Child, Genetics (clinical), Cervical Vestibular Evoked Myogenic Potentials, Genetic Association Studies, Balance (ability), Aged, Vestibular system, Vestibular areflexia, novel variants, vestibular, business.industry, balance, Original Articles, Middle Aged, medicine.disease, Phenotype, 030104 developmental biology, atypical Usher syndrome, Cohort, Evoked Potentials, Auditory, Original Article, Female, sense organs, Vestibule, Labyrinth, business, Energy Intake, Usher Syndromes
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9
المؤلفون: F Gaba, O Blyuss, I Rodriguez, J Dilley, YL Wan, A Saiz, Z Razumova, K Zalewski, T Nikolova, I Selcuk, N Bizzarri, C Theofanakis, M Lanner, A Pletnev, M Gurumurthy, R Manchanda
المصدر: Miscellaneous.
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::89d2b23d4712c83d9458742980240ea5
https://doi.org/10.1136/ijgc-2021-esgo.284 -
10
المؤلفون: Borek Sehnal, Martina Borčinová, Almerinda Petiz, R. Kocian, M Felsinger, Ignacio Zapardiel, R Poncová, P Kascak, R Pilka, David Cibula, S Marnitz, F. Frühauf, Jiří Jarkovský, J Klat, Aureli Torné, K Zalewski, O Arencibia-Sanchéz, Jordi Ponce, L Lay, C Köhler
المصدر: Cervical cancer.
مصطلحات موضوعية: Cervical cancer, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Sentinel lymph node, medicine.disease, 3. Good health, Surgery, Lymphedema, Multicenter trial, Biopsy, medicine, Cumulative incidence, Stage (cooking), Risk factor, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::fbb8fc1e3414ce2686169429b8a38ed8
https://doi.org/10.1136/ijgc-2021-esgo.7