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Wyszukujesz frazę ""Morton, Cynthia C."" wg kryterium: Autor


Tytuł :
Low-pass genome sequencing–based detection of absence of heterozygosity: validation in clinical cytogenetics
Autorzy :
Dong, ZiruiAff1, Aff2, Aff3
Chau, Matthew Hoi KinAff1, Aff2, Aff3
Zhang, Yanyan
Yang, ZhenjunAff1, Aff2
Shi, MengmengAff1, Aff2
Wah, Yi Man
Kwok, Yvonne K.Aff1, Aff2
Leung, Tak YeungAff1, Aff2, Aff4
Morton, Cynthia C.Aff5, Aff6, Aff7, Aff8, Aff9
Choy, Kwong WaiAff1, Aff2, Aff3, Aff4
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Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(7):1225-1233
Czasopismo naukowe
Tytuł :
A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing
Autorzy :
Hirsch, Yoel
Tangshewinsirikul, ChayadaAff2, Aff3
Booth, Kevin T.Aff4, Aff5
Azaiez, Hela
Yefet, Devorah
Quint, Adina
Weiden, Tzvi
Brownstein, Zippora
Macarov, Michal
Davidov, Bella
Pappas, John
Rabin, Rachel
Kenna, Margaret A.Aff11, Aff12
Oza, Andrea M.Aff11, Aff13
Lafferty, KatherineAff13, Aff14
Amr, Sami S.Aff12, Aff13, Aff15
Rehm, Heidi L.Aff12, Aff13, Aff15, Aff16, Aff17
Kolbe, Diana L.
Frees, Kathy
Nishimura, Carla
Luo, Minjie
Farra, Chantal
Morton, Cynthia C.Aff3, Aff12, Aff15, Aff17, Aff20
Scher, Sholem Y.
Ekstein, Josef
Avraham, Karen B.
Smith, Richard J. H.
Shen, JunAff12, Aff13, Aff15
Pokaż więcej
Źródło :
European Journal of Human Genetics. 29(6):988-997
Czasopismo naukowe
Tytuł :
First Report of Bilateral External Auditory Canal Cochlin Aggregates (“Cochlinomas”) with Multifocal Amyloid-Like Deposits, Associated with Sensorineural Hearing Loss and a Novel Genetic Variant in COCH Encoding Cochlin
Autorzy :
Basu, Atreyee
Boczek, Nicole J.
Robertson, Nahid G.
Nasr, Samih H.
Jethanamest, Daniel
McPhail, Ellen D.
Kurtin, Paul J.
Dasari, Surendra
Butz, Malinda
Morton, Cynthia C.Aff6, Aff7, Aff8
Highsmith, W. Edward
Zhou, FangAff1, Aff9
Pokaż więcej
Źródło :
Head and Neck Pathology. 14(3):808-816
Czasopismo naukowe
Tytuł :
Comprehensive clinically oriented workflow for nucleotide level resolution and interpretation in prenatal diagnosis of de novo apparently balanced chromosomal translocations in their genomic landscape
Autorzy :
David, Dezső
Freixo, João P.
Fino, Joana
Carvalho, Inês
Marques, Mariana
Cardoso, Manuela
Piña-Aguilar, Raul E.Aff3, Aff4
Morton, Cynthia C.Aff3, Aff4, Aff5, Aff6, Aff7
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Źródło :
Human Genetics. 139(4):531-543
Czasopismo naukowe
Tytuł :
Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis
Autorzy :
Wang, HuilinAff1, Aff2
Dong, ZiruiAff2, Aff3
Zhang, Rui
Chau, Matthew Hoi KinAff2, Aff3
Yang, Zhenjun
Tsang, Kathy Yin Ching
Wong, Hoi Kin
Gui, Baoheng
Meng, Zhuo
Xiao, Kelin
Zhu, XiaofanAff2, Aff3
Wang, Yanfang
Chen, Shaoyun
Leung, Tak YeungAff2, Aff3, Aff4
Cheung, Sau WaiAff4, Aff5
Kwok, Yvonne K.
Morton, Cynthia C.Aff6, Aff7, Aff8, Aff9, Aff10
Zhu, Yuanfang
Choy, Kwong WaiAff2, Aff3, Aff4
Pokaż więcej
Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 22(3):500-510
Czasopismo naukowe
Tytuł :
Generation of protective pneumococcal-specific nasal resident memory CD4 T cells via parenteral immunization
Autorzy :
O’Hara, Joanne M.Aff1, Aff2
Redhu, Naresh SAff2, Aff3
Cheung, ElaineAff1, Aff2
Robertson, Nahid G.
Patik, Izabel
Sayed, Shorouk ElAff3, Aff5
Thompson, Claudette M.
Herd, Muriel
Lucas, Katherine B.
Conaway, EvanAff5, Aff8
Morton, Cynthia C.Aff2, Aff4, Aff5
Farber, Donna L.
Malley, RichardAff1, Aff2
Horwitz, Bruce H.Aff2, Aff5, Aff7
Pokaż więcej
Źródło :
Mucosal Immunology: The official publication of the Society for Mucosal Immunology. 13(1):172-182
Czasopismo naukowe
Tytuł :
Nationwide population genetic screening improves outcomes of newborn screening for hearing loss in China
Autorzy :
Wang, Qiuju
Xiang, Jiale
Sun, JunAff3, Aff4
Yang, Yun
Guan, Jing
Wang, Dayong
Song, CuiAff5, Aff6
Guo, Ling
Wang, Hongyang
Chen, Yaqiu
Leng, Junhong
Wang, Xiaman
Zhang, Junqing
Han, Bing
Zou, Jing
Yan, Chengbin
Zhao, Lidong
Luo, Hongyu
Han, Yuan
Yuan, Wen
Zhang, Hongyun
Wang, Wei
Wang, JianAff13, Aff14
Yang, HuanmingAff13, Aff14
Xu, XunAff13, Aff15
Yin, Ye
Morton, Cynthia C.Aff5, Aff16, Aff17
Zhao, Lijian
Zhu, ShidaAff13, Aff15, Aff18
Shen, Jun
Peng, Zhiyu
Pokaż więcej
Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(10):2231-2238
Czasopismo naukowe
Tytuł :
Tools for standardized data collection: Speech, Language, and Hearing measurement protocols in the PhenX Toolkit.
Autorzy :
Morton, Cynthia C. (AUTHOR)
Marazita, Mary L. (AUTHOR)
Peter, Beate (AUTHOR)
Rice, Mabel L. (AUTHOR)
Kraft, Shelly Jo (AUTHOR)
Barkmeier‐Kraemer, Julie (AUTHOR)
Balaban, Carey (AUTHOR)
Phillips, Michael (AUTHOR)
Schoden, Jennifer (AUTHOR)
Maiese, Deborah (AUTHOR)
Hendershot, Tabitha (AUTHOR)
Hamilton, Carol M. (AUTHOR)
Pokaż więcej
Źródło :
Annals of Human Genetics. Sep2021, p1. 7p. 1 Chart.
Czasopismo naukowe
Tytuł :
Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
Autorzy :
Waggoner, Darrel
Wain, Karen E.
Dubuc, Adrian M.
Conlin, Laura
Hickey, Scott E.
Lamb, Allen N.
Martin, Christa Lese
Morton, Cynthia C.Aff3, Aff7, Aff8
Rasmussen, Kristen
Schuette, Jane L.
Schwartz, Stuart
Miller, David T.
on behalf of the ACMG Professional Practice and Guidelines Committee
Pokaż więcej
Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 20(10):1105-1113
Czasopismo naukowe
Tytuł :
Identification of balanced chromosomal rearrangements previously unknown among participants in the 1000 Genomes Project: implications for interpretation of structural variation in genomes and the future of clinical cytogenetics
Autorzy :
Dong, ZiruiAff1, Aff2, Aff3
Wang, HuilinAff1, Aff3, Aff4
Chen, HaixiaoAff2, Aff5
Jiang, HuiAff2, Aff5
Yuan, JianyingAff2, Aff5
Yang, ZhenjunAff2, Aff5
Wang, Wen-JingAff2, Aff5
Xu, FengpingAff2, Aff5, Aff6
Guo, XiaosenAff2, Aff5
Cao, YeAff1, Aff3
Zhu, ZhenzhenAff2, Aff5
Geng, ChunyuAff2, Aff5
Cheung, Wan Chee
Kwok, Yvonne KAff1, Aff3
Yang, HuanmingAff2, Aff5
Leung, Tak YeungAff1, Aff3, Aff7
Morton, Cynthia CAff8, Aff9, Aff10, Aff11, Aff12
Cheung, Sau WaiAff7, Aff13
Choy, Kwong WaiAff1, Aff3, Aff7
Pokaż więcej
Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 20(7):697-707
Czasopismo naukowe
Tytuł :
Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin
Autorzy :
Zepeda-Mendoza, Cinthya J.Aff1, Aff2
Bardon, Alexandra
Kammin, Tammy
Harris, David J.Aff2, Aff4
Cox, Helen
Redin, ClaireAff2, Aff6, Aff7
Ordulu, ZehraAff2, Aff8
Talkowski, Michael E.Aff2, Aff6, Aff7, Aff8, Aff9, Aff10
Morton, Cynthia C.Aff1, Aff2, Aff9, Aff11, Aff12
Pokaż więcej
Źródło :
European Journal of Human Genetics. 26(3):374-381
Czasopismo naukowe
Tytuł :
Genome Sequencing Explores Complexity of Chromosomal Abnormalities in Recurrent Miscarriage
Autorzy :
Dong, Zirui
Yan, Junhao
Xu, Fengping
Yuan, Jianying
Jiang, Hui
Wang, Huilin
Chen, Haixiao
Zhang, Lei
Ye, Lingfei
Xu, Jinjin
Shi, Yuhua
Yang, Zhenjun
Cao, Ye
Chen, Lingyun
Li, Qiaoling
Zhao, Xia
Li, Jiguang
Chen, Ao
Zhang, Wenwei
Wong, Hoi Gin
Qin, Yingying
Zhao, Han
Chen, Yuan
Li, Pei
Ma, Tao
Wang, Wen-jing
Kwok, Yvonne K.
Jiang, Yuan
Pursley, Amber N.
Chung, Jacqueline P.w.
Hong, Yan
Kristiansen, Karsten
Yang, Huanming
Piña-aguilar, Raul E.
Leung, Tak Yeung
Cheung, Sau Wai
Morton, Cynthia C.
Choy, Kwong Wai
Chen, Zi-jiang
Pokaż więcej
Źródło :
Dong, Z, Yan, J, Xu, F, Yuan, J, Jiang, H, Wang, H, Chen, H, Zhang, L, Ye, L, Xu, J, Shi, Y, Yang, Z, Cao, Y, Chen, L, Li, Q, Zhao, X, Li, J, Chen, A, Zhang, W, Wong, H G, Qin, Y, Zhao, H, Chen, Y, Li, P, Ma, T, Wang, W, Kwok, Y K, Jiang, Y, Pursley, A N, Chung, J P W, Hong, Y, Kristiansen, K, Yang, H, Piña-aguilar, R E, Leung, T Y, Cheung, S W, Morton, C C, Choy, K W & Chen, Z 2019, ' Genome Sequencing Explores Complexity of Chromosomal Abnormalities in Recurrent Miscarriage ', Am J Hum Genet, vol. 105, no. 6, pp. 1102-1111 . https://doi.org/10.1016/j.ajhg.2019.10.003
Opis pliku :
application/vnd.openxmlformats-officedocument.wordprocessingml.document
Tytuł :
First Report of Bilateral External Auditory Canal Cochlin Aggregates ("Cochlinomas") with Multifocal Amyloid-Like Deposits, Associated with Sensorineural Hearing Loss and a Novel Genetic Variant in COCH Encoding Cochlin.
Autorzy :
Basu, Atreyee
Boczek, Nicole J.
Robertson, Nahid G.
Nasr, Samih H.
Jethanamest, Daniel
McPhail, Ellen D.
Kurtin, Paul J.
Dasari, Surendra
Butz, Malinda
Morton, Cynthia C.
Highsmith, W. Edward
Zhou, Fang
Pokaż więcej
Źródło :
Head & Neck Pathology; Sep2020, Vol. 14 Issue 3, p808-816, 9p
Czasopismo naukowe

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