Zoekresultaten - John H. Greinwald
- Toon 1 - 10 resultaten van 10
-
1
-
2
-
3
When Is the Vestibular Aqueduct Enlarged? A Statistical Analysis of the Normative Distribution of Vestibular Aqueduct Size door Shyan Vijayasekaran, Mark J. Halsted, M Boston, Jareen Meinzen‐Derr, Dianna M.E. Bardo, John H. Greinwald, Corning Benton
Gepubliceerd in 2007Artigo -
4
High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays door Prachi Kothiyal, Stephanie Cox, Jonathan Ebert, Ammar Husami, Margaret A. Kenna, John H. Greinwald, Bruce J. Aronow, Heidi L. Rehm
Gepubliceerd in 2010Artigo -
5
-
6
Cosegregation of the G7444A mutation in the mitochondrial COI/tRNA<sup>Ser(UCN)</sup> genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside‐induced and no... door Huijun Yuan, Yaping Qian, Yanjun Xu, Juyang Cao, Linna Bai, Weidong Shen, Fei Ji, Xin Zhang, Dongyang Kang, Jun Qin Mo, John H. Greinwald, Dongyi Han, Suoqiang Zhai, Wie‐Yen Young, Min‐Xin Guan
Gepubliceerd in 2005Artigo -
7
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort door Girish Putcha, Bassem A. Bejjani, Stacey Bléoo, Jessica K. Booker, John C. Carey, Nancy Carson, Soma Das, Melissa A Dempsey, Julie M. Gastier‐Foster, John H. Greinwald, Marcy L. Hoffmann, Linda Jo Bone Jeng, Margaret A. Kenna, Ishrag Khababa, Margaret Lilley, Rong Mao, Kasinathan Muralidharan, Iris M. Otani, Heidi L. Rehm, Fred Schaefer, William Seltzer, Elaine Spector, Michelle Springer, Karen E. Weck, Richard Wenstrup, Stacey Withrow, Bai-Lin Wu, Maimoona A. Zariwala, Iris Schrijver
Gepubliceerd in 2007Artigo -
8
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel door Jun Shen, Andrea M. Oza, Ignacio del Castillo, Hatice Duzkale, Tatsuo Matsunaga, Arti Pandya, Hyunseok P. Kang, Rebecca Mar‐Heyming, Saurav Guha, Krista Moyer, Christine Lo, Margaret A. Kenna, John Alexander, Yan Zhang, Yoel Hirsch, Minjie Luo, Ye Cao, Kwong Wai Choy, Yen‐Fu Cheng, Karen B. Avraham, Xin‐Hua Hu, Gema Garrido, Miguel A. Moreno‐Pelayo, John H. Greinwald, Kejian Zhang, Yukun Zeng, Zippora Brownstein, Lina Basel‐Vanagaite, Bella Davidov, Moshe Frydman, Tzvi Weiden, Narasimhan Nagan, Alecia Willis, Sarah E. Hemphill, Andrew R. Grant, Rebecca K. Siegert, Marina T. DiStefano, Sami S. Amr, Heidi L. Rehm, Ahmad Abou Tayoun, Héla Azaiez, Kevin T. Booth, Richard J. Smith, Anne B.S. Giersch, Cynthia C. Morton, Xue Z. Liu, Mustafa Tekin, Yu Hong Lu, Huijun Yuan, Hideki Mutai, Lisa A. Schimmenti
Gepubliceerd in 2019Artigo -
9
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss door Mayher Patel, Marina T. DiStefano, Andrea M. Oza, Madeline Y. Hughes, Emma H. Wilcox, Sarah E. Hemphill, Brandon J. Cushman, Andrew R. Grant, Rebecca K. Siegert, Jun Shen, Alex Chapin, Nicole J. Boczek, Lisa A. Schimmenti, Kiyomitsu Nara, Margaret A. Kenna, Héla Azaiez, Kevin T. Booth, Karen B. Avraham, Hannie Kremer, Andrew J. Griffith, Heidi L. Rehm, Sami S. Amr, Ahmad Abou Tayoun, Sonia Abdelhak, John Alexander, Zippora Brownstein, Rachel Burt, Byung Yoon Choi, Lilian Downie, Thomas B. Friedman, Anne B.S. Giersch, John H. Greinwald, Jeffrey T. Holt, Makoto Hosoya, Un‐Kyung Kim, Ian D. Krantz, Suzanne M. Leal, Saber Masmoudi, Tatsuo Matsunaga, Matías Morin, Cynthia C. Morton, Hideki Mutai, Arti Pandya, Richard J. Smith, Mustafa Tekin, Shin‐ichi Usami, Guy Van Camp, Kazuki Yamazawa, Huijun Yuan, Elizabeth Black-Zeigelbein, Kejian Zhang
Gepubliceerd in 2021Artigo -
10
ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs door Marina T. DiStefano, Sarah E. Hemphill, Andrea M. Oza, Rebecca K. Siegert, Andrew R. Grant, Madeline Y. Hughes, Brandon J. Cushman, Héla Azaiez, Kevin T. Booth, Alex Chapin, Hatice Duzkale, Tatsuo Matsunaga, Jun Shen, Wenying Zhang, Margaret A. Kenna, Lisa A. Schimmenti, Mustafa Tekin, Heidi L. Rehm, Ahmad Abou Tayoun, Sami S. Amr, Sonia Abdelhak, John Alexander, Karen B. Avraham, Neha Bhatia, Donglin Bai, Nicole J. Boczek, Zippora Brownstein, Rachel Burt, Yasmin Bylstra, Ignacio del Castillo, Byung Yoon Choi, Lilian Downie, Thomas B. Friedman, Anne B.S. Giersch, Jasmine Goh, John H. Greinwald, Andrew J. Griffith, Amy Hernandez, Jeffrey T. Holt, Makoto Hosoya, Lim Jiin Ying, Kanika Jain, Un‐Kyung Kim, Hannie Kremer, Ian D. Krantz, Suzanne M. Leal, Morag A. Lewis, Xue Zhong Liu, Wendy Low, Yu Lu, Minjie Luo, Saber Masmoudi, Tan Ming, Miguel A. Moreno‐Pelayo, Matías Morin, Cynthia C. Morton, Jaclyn Murray, Hideki Mutai, Kiyomitsu Nara, Arti Pandya, Sylvia Kam Pei-Rong, Richard J. Smith, Lynette Pei‐Chi Shek, Funda Suer, Shin‐ichi Usami, Guy Van Camp, Kazuki Yamazawa, Huijun Yuan, Elizabeth Black-Zeigelbein, Keijan Zhang
Gepubliceerd in 2019Artigo
Zoekinstrumenten:
Gerelateerde Onderwerpen
Medicine
Audiology
Biology
Hearing loss
Computational biology
Genetics
Internal medicine
Sensorineural hearing loss
Antibiotics
Bioinformatics
Disease
Gene
Lymphangioma
Mutation
Pathology
Sclerotherapy
Surgery
Adverse effect
Alternative medicine
Aminoglycoside
Anatomy
Cefaclor
Cephalosporin
Cognitive psychology
Cohort
Cohort study
Contraindication
Craniofacial
DNA microarray
DNA sequencing