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

URL الوصول: https://doaj.org/article/2391a5ad25bb493fb9a27fe1f7e22717

المؤلفون: Tanya J. Lehky, Paul Sackstein, Deborah Tamura, Martha Quezado, Tianxia Wu, Sikandar G. Khan, Nicholas J. Patronas, Edythe Wiggs, Carmen C. Brewer, John J. DiGiovanna, Kenneth H. Kraemer

المصدر: BMC Neurology, Vol 21, Iss 1, Pp 1-11 (2021)

مصطلحات موضوعية: Xeroderma pigmentosum, Peripheral neuropathy, Neurodegeneration, Sensorineural hearing loss, DNA repair, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2377

URL الوصول: https://doaj.org/article/f7051e840cc646e6b5885748c6f752bb

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

Relation: https://www.mdpi.com/2077-0383/12/8/2767; https://doaj.org/toc/2077-0383

URL الوصول: https://doaj.org/article/35781ce60bd4431596cb420a80513ee3

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

Relation: http://link.springer.com/article/10.1186/s12881-019-0853-4; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/a1762e3b69644b61a4f412a1d20d7f56

المؤلفون: Hiroshi Nakanishi, Pragya Prakash, Taku Ito, H. Jeffrey Kim, Carmen C. Brewer, Danielle Harrow, Isabelle Roux, Seiji Hosokawa, Andrew J. Griffith

المصدر: Frontiers in Neurology, Vol 11 (2020)

مصطلحات موضوعية: cryopyrin-associated periodic syndromes, hearing loss, interleukin-1β, macrophage, NLRP3, Pendred syndrome, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fneur.2020.00141/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/cd1de9a555114b5cbf40476f1957f3a4

المؤلفون: Rabia Faridi, Rizwan Yousaf, Shoujun Gu, Sayaka Inagaki, Amy E. Turriff, Keith Pelstring, Bin Guan, Amelia Naik, Andrew J. Griffith, Samuel Mawuli Adadey, Elvis Twumasi Aboagye, Gordon A. Awandare, Robert J. Morell, Ekaterini Tsilou, Amanda G. Noyes, Laura A. G. Sulmonte, Ambroise Wonkam, Isabelle Schrauwen, Suzanne M. Leal, Hela Azaiez, Carmen C. Brewer, Sheikh Riazuddin, Robert B. Hufnagel, Michael Hoa, Wadih M. Zein, J. Karl de Dios, Thomas B. Friedman

المصدر: Clinical Genetics. 103:699-703

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9fa28c57eb07bd63d0020e5fb71c72c4
https://doi.org/10.1111/cge.14312

المؤلفون: Emile R. Vieta-Ferrer, Ehsan Ullah, Delphine Blain, Julie A. Christensen, Carmen C. Brewer, James E. Balow, Aman George, Robert B. Hufnagel, Tiziana Cogliati, Brian P. Brooks

المصدر: Ophthalmic Genetics. 44:182-185

مصطلحات موضوعية: Ophthalmology, Pediatrics, Perinatology and Child Health, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b49f2cb6e24dd2e7b8c9bea116397782
https://doi.org/10.1080/13816810.2022.2089360

المؤلفون: Colleen G. Le Prell, Carmen C. Brewer, Kathleen C. M. Campbell

المصدر: J Acoust Soc Am

مصطلحات موضوعية: Acoustics and Ultrasonics, Arts and Humanities (miscellaneous), Ear, Inner, Audiometry, Pure-Tone, Humans, Special Issue on Noise-Induced Hearing Disorders: Clinical and Investigational Tools, Auditory Threshold, Hearing Loss, Ototoxicity

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b430a95d8909ca9b8bfa9fe2a36d3b6
https://pubmed.ncbi.nlm.nih.gov/35931504

المؤلفون: Victoria Idowu, Julie Christensen, Andrea M. Gross, Eva Dombi, Jennifer R Miles, Kelly King, Jennifer Chisholm, Christopher Zalewski, Andrea Baldwin, Patricia Whitcomb, Crystal Burgess, Brigitte C Widemann, Carmen C Brewer, Hung Jeffrey Kim

المصدر: The LaryngoscopeBIBLIOGRAPHY.

مصطلحات موضوعية: Otorhinolaryngology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75822f5476a2288d45c92116119d2695
https://pubmed.ncbi.nlm.nih.gov/36583617

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99d00d64dba95ca47cdea707cc3837fb
https://doi.org/10.1007/s00439-021-02379-9