المؤلفون: Patel, Mayher J., DiStefano, Marina T., Oza, Andrea M., Hughes, Madeline Y., Wilcox, Emma H., Hemphill, Sarah E., Cushman, Brandon J., Grant, Andrew R., Siegert, Rebecca K., Shen, Jun, Chapin, Alex, Boczek, Nicole J., Schimmenti, Lisa A., Nara, Kiyomitsu, Kenna, Margaret, Azaiez, Hela, Booth, Kevin T., Avraham, Karen B., Kremer, Hannie, Griffith, Andrew J., Rehm, Heidi L., Amr, Sami S., Tayoun, Ahmad N. Abou, Abdelhak, Sonia, Alexander, John, Brownstein, Zippora, Burt, Rachel, Choi, Byung Yoon, Downie, Lilian, Friedman, Thomas, Giersch, Anne, Greinwald, John, Holt, Jeffrey, Hosoya, Makoto, Kim, Un-Kyung, Krantz, Ian, Leal, Suzanne, Masmoudi, Saber, Matsunaga, Tatsuo, Morín, Matías, Morton, Cynthia, Mutai, Hideki, Pandya, Arti, Smith, Richard, Tekin, Mustafa, Usami, Shin-Ichi, Van Camp, Guy, Yamazawa, Kazuki, Yuan, Hui-Jun, Black-Zeigelbein, Elizabeth

المصدر: Genetics in Medicine ; volume 23, issue 11, page 2208-2212 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/s41436-021-01254-2
https://www.nature.com/articles/s41436-021-01254-2.pdf
https://www.nature.com/articles/s41436-021-01254-2
https://api.elsevier.com/content/article/PII:S1098360021051789?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021051789?httpAccept=text/plain

المؤلفون: DiStefano, Marina T., Hemphill, Sarah E., Oza, Andrea M., Van Camp, Guy

المساهمون: ClinGen Hearing Loss Clinical Domain Working Group

المصدر: 1098-3600 ; Genetics in medicine

مصطلحات موضوعية: Biology, Human medicine

وصف الملف: pdf

Relation: info:eu-repo/semantics/altIdentifier/isi/000488530100012

الاتاحة: https://hdl.handle.net/10067/1642980151162165141
https://repository.uantwerpen.be/docman/irua/e02524/164298.pdf

المؤلفون: DiStefano, Marina T., Hemphill, Sarah E., Oza, Andrea M., Siegert, Rebecca K., Grant, Andrew R., Hughes, Madeline Y., Cushman, Brandon J., Azaiez, Hela, Booth, Kevin T., Chapin, Alex, Duzkale, Hatice, Matsunaga, Tatsuo, Shen, Jun, Zhang, Wenying, Kenna, Margaret, Schimmenti, Lisa A., Tekin, Mustafa, Rehm, Heidi L., Tayoun, Ahmad N. Abou, Amr, Sami S., Abdelhak, Sonia, Alexander, John, Avraham, Karen, Bhatia, Neha, Bai, Donglin, Boczek, Nicole, Brownstein, Zippora, Burt, Rachel, Bylstra, Yasmin, del Castillo, Ignacio, Choi, Byung Yoon, Downie, Lilian, Friedman, Thomas, Giersch, Anne, Goh, Jasmine, Greinwald, John, Griffith, Andrew J., Hernandez, Amy, Holt, Jeffrey, Hosoya, Makoto, Ying, Lim Jiin, Jain, Kanika, Kim, Un-Kyung, Kremer, Hannie, Krantz, Ian, Leal, Suzanne, Lewis, Morag, Liu, Xue Zhong, Low, Wendy, Lu, Yu

المصدر: Genetics in Medicine ; volume 21, issue 10, page 2409 ; ISSN 1098-3600

الاتاحة: https://doi.org/10.1038/s41436-019-0553-7
http://www.nature.com/articles/s41436-019-0553-7.pdf
http://www.nature.com/articles/s41436-019-0553-7
https://api.elsevier.com/content/article/PII:S1098360021045172?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021045172?httpAccept=text/plain

المؤلفون: Niehaus, Annie, Azzariti, Danielle R., Harrison, Steven M., DiStefano, Marina T., Hemphill, Sarah E., Senol-Cosar, Ozlem, Rehm, Heidi L.

المصدر: Genetics in Medicine ; volume 21, issue 8, page 1699-1701 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/s41436-018-0432-7
http://www.nature.com/articles/s41436-018-0432-7.pdf
http://www.nature.com/articles/s41436-018-0432-7
https://api.elsevier.com/content/article/PII:S1098360021016312?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021016312?httpAccept=text/plain

المؤلفون: Shen, Jun, Oza, Andrea M., del Castillo, Ignacio, Duzkale, Hatice, Matsunaga, Tatsuo, Pandya, Arti, Kang, Hyunseok P., Mar-Heyming, Rebecca, Guha, Saurav, Moyer, Krista, Lo, Christine, Kenna, Margaret, Alexander, John J., Zhang, Yan, Hirsch, Yoel, Luo, Minjie, Cao, Ye, Wai Choy, Kwong, Cheng, Yen-Fu, Avraham, Karen B., Hu, Xinhua, Garrido, Gema, Moreno-Pelayo, Miguel A., Greinwald, John, Zhang, Kejian, Zeng, Yukun, Brownstein, Zippora, Basel-Salmon, Lina, Davidov, Bella, Frydman, Moshe, Weiden, Tzvi, Nagan, Narasimhan, Willis, Alecia, Hemphill, Sarah E., Grant, Andrew R., Siegert, Rebecca K., DiStefano, Marina T., Amr, Sami S., Rehm, Heidi L., Abou Tayoun, Ahmad N., Azaiez, Hela, Booth, Kevin T., Smith, Richard J., Giersch, Anne B., Morton, Cynthia C., Liu, Xue Z., Tekin, Mustafa, Lu, Yu, Yuan, Huijun, Mutai, Hideki

المساهمون: National Institute on Deafness and Other Communication Disorders, National Hospital Organization, Instituto de Salud Carlos III

المصدر: Genetics in Medicine ; volume 21, issue 11, page 2442-2452 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/s41436-019-0535-9
http://www.nature.com/articles/s41436-019-0535-9.pdf
http://www.nature.com/articles/s41436-019-0535-9
https://api.elsevier.com/content/article/PII:S1098360021010662?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021010662?httpAccept=text/plain

المؤلفون: Oza, A., DiStefano, Marina T., Hemphill, Sarah E., Cushman, Brandon J., Grant, Andrew R., Siegert, Rebecca K., Kremer, H., Amr, Sami S., Tayoun, Ahmad N.Abou

المصدر: Human Mutation, 39, 11, pp. 1593-1613

مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience

Relation: http://hdl.handle.net/2066/197168

الاتاحة: http://hdl.handle.net/2066/197168
https://doi.org/10.1002/humu.23630

المؤلفون: McGlaughon, Jennifer L., Goldstein, Jennifer L., Thaxton, Courtney, Hemphill, Sarah E., Berg, Jonathan S.

المصدر: Human Mutation; Nov2018, Vol. 39 Issue 11, p1494-1504, 11p

المؤلفون: Henrie, Alex, Hemphill, Sarah E., Ruiz‐Schultz, Nicole, Cushman, Brandon, DiStefano, Marina T., Azzariti, Danielle, Harrison, Steven M., Rehm, Heidi L., Eilbeck, Karen

المصدر: Human Mutation; Aug2018, Vol. 39 Issue 8, p1051-1060, 10p

المؤلفون: DiStefano, Marina T., Hemphill, Sarah E., Cushman, Brandon J., Bowser, Mark J., Hynes, Elizabeth, Grant, Andrew R., Siegert, Rebecca K., Oza, Andrea M., Gonzalez, Michael A., Amr, Sami S., Rehm, Heidi L., Abou Tayoun, Ahmad N.

المصدر: The Journal of Molecular Diagnostics; November 2018, Vol. 20 Issue: 6 p789-801, 13p