Zobrazeno 1 - 10
of 133
pro vyhledávání: '"San Agustin T"'
Autor:
Lalwani, A. K., Brister, J. R., Fex, J., Grundfast, K. M., Pikus, A. T., Ploplis, B., San Agustin, T., Skarka, H., Wilcox, E. R.
X-linked deafness is a rare cause of hereditary hearing impairment. We have identified a family with X-linked dominant sensorineural hearing impairment, characterized by incomplete penetrance and variable expressivity in carrier females, that is link
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d8408a949a0d9793604e82e6e8ed7bcd
https://europepmc.org/articles/PMC1918282/
https://europepmc.org/articles/PMC1918282/
Autor:
Peters, L. M., Fridell, R. A., Boger, E. T., San Agustin, T. B., Madeo, A. C., Griffith, A. J., Friedman, T. B., Morell, R. J.
Publikováno v:
Clinical Genetics; Apr2008, Vol. 73 Issue 4, p367-372, 6p, 2 Diagrams, 1 Graph
Autor:
Lalwani, Anil K., Mhatre, Anand N., San Agustin, Theresa B., Wilcox, Edward R., Lalwani, A K, Mhatre, A N, San Agustin, T B, Wilcox, E R
Publikováno v:
Laryngoscope; 1996, Vol. 106 Issue 7, p895-902, 8p
Autor:
Salladay S, San Agustin T
Publikováno v:
Death Education; 1984, Vol. 8 Issue 4, p257-269, 13p
Autor:
Farrer, L. A., Grundfast, K. M., Amos, J., Arnos, K. S., Asher Jr, J. H., Beighton, P., Diehl, S. R., Fex, J., Foy, C., Friedman, T. B., Greenberg, J., Hoth, C., Marazita, M., Milunsky, A., Robert Morell, Nance, W., Newton, V., Ramesar, R., San Agustin, T. B., Skare, J., Stevens, C. A., Wagner Jr, R. G., Wilcox, E. R., Winship, I., Read, A. P.
Publikováno v:
Scopus-Elsevier
Previous studies have localized the gene for Waardenburg syndrome (WS) type I to the distal portion of chromosome 2q, near the ALPP locus. We pooled linkage data obtained from 41 WS type I and 3 WS type II families which were typed for six polymorphi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::3103d797d63d6861568678ddeafe3cb7
http://www.scopus.com/inward/record.url?eid=2-s2.0-0026692676&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-0026692676&partnerID=MN8TOARS
Autor:
Farrer, L. A., Arnos, K. S., Asher Jr, J. H., Baldwin, C. T., Diehl, S. R., Friedman, T. B., Greenberg, J., Grundfast, K. M., Hoth, C., Lalwani, A. K., Landa, B., Leverton, K., Milunsky, A., Morell, R., Nance, W. E., Newton, V., Rajkumar Ramesar, Rao, V. S., Reynolds, J. E., San Agustin, T. B., Wilcox, E. R., Winship, I., Read, A. P.
Publikováno v:
Web of Science
Scopus-Elsevier
Publons
Scopus-Elsevier
Publons
Waardenburg syndrome (WS) is a dominantly inherited and clinically variable syndrome of deafness, pigmentary changes, and distinctive facial features. Clinically, WS type I (WS1) is differentiated from WS type II (WS2) by the high frequency of dystop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::60ec6f08be009bbf9af5277fc62adb97
https://publons.com/wos-op/publon/10570764/
https://publons.com/wos-op/publon/10570764/
Autor:
Lalwani AK; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892., Brister JR, Fex J, Grundfast KM, Pikus AT, Ploplis B, San Agustin T, Skarka H, Wilcox ER
Publikováno v:
American journal of human genetics [Am J Hum Genet] 1994 Oct; Vol. 55 (4), pp. 685-94.
Publikováno v:
Frontiers in Neuroscience; 2023, p1-8, 8p
Akademický článek
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Autor:
Wu, Di1 (AUTHOR), Huang, Weiyuan1 (AUTHOR), Xu, Zhenhang2 (AUTHOR), Li, Shuo1 (AUTHOR), Zhang, Jie1 (AUTHOR), Chen, Xiaohua3 (AUTHOR), Tang, Yan1 (AUTHOR), Qiu, Jinhong1 (AUTHOR), Wang, Zhixia1 (AUTHOR), Duan, Xuchu4 (AUTHOR), Zhang, Luping1 (AUTHOR) zhanglp910@126.com
Publikováno v:
Molecular Genetics & Genomic Medicine. Apr2020, Vol. 8 Issue 4, p1-8. 8p.