Hakutulokset - Booth, Kevin

DFNA5 (GSDME) c.991-15_991-13delTTC: Founder Mutation or Mutational Hotspot? Tekijä Booth, Kevin T., Azaiez, Hela, Smith, Richard J. H.

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Old gene, new phenotype: Splicing altering variants in CEACAM16 cause recessive non-syndromic hearing impairment Tekijä Booth, Kevin T, Kahrizi, Kimia, Najmabadi, Hossein, Azaiez, Hela, Smith, Richard J

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Intracellular Regulome Variability Along the Organ of Corti: Evidence, Approaches, Challenges, and Perspective Tekijä Booth, Kevin T., Azaiez, Hela, Jahan, Israt, Smith, Richard J. H., Fritzsch, Bernd

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Identification of Novel and Recurrent Variants in MYO15A in Ashkenazi Jewish Patients With Autosomal Recessive Nonsyndromic Hearing Loss Tekijä Booth, Kevin T., Hirsch, Yoel, Vardaro, Anna C., Ekstein, Josef, Yefet, Devorah, Quint, Adina, Weiden, Tzvi, Corey, David P.

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Exonic mutations and exon skipping: lessons learned from DFNA5 Tekijä Booth, Kevin T, Azaiez, Hela, Kahrizi, Kimia, Wang, Donghong, Zhang, Yuzhou, Frees, Kathy, Nishimura, Carla, Najmabadi, Hossein, Smith, Richard J

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Mutations in LOXHD1 gene cause various types and severities of hearing loss Tekijä Mori, Kentaro, Moteki, Hideaki, Kobayashi, Yumiko, Azaiez, Hela, Booth, Kevin T, Nishio, Shin-ya, Sato, Hiroaki, Smith, Richard J H, Usami, Shin-ichi

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Defective Tmprss3-Associated Hair Cell Degeneration in Inner Ear Organoids Tekijä Tang, Pei-Ciao, Alex, Alpha L., Nie, Jing, Lee, Jiyoon, Roth, Adam A., Booth, Kevin T., Koehler, Karl R., Hashino, Eri, Nelson, Rick F.

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TBC1D24 Mutation Causes Autosomal Dominant Non-Syndromic Hearing Loss Tekijä Azaiez, Hela, Booth, Kevin T., Bu, Fengxiao, Huygen, Patrick, Shibata, Seiji, Shearer, A. Eliot, Kolbe, Diana, Meyer, Nicole, Black-Ziegelbein, E. Ann, Smith, Richard J.H.

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De novo mutation in X-linked hearing loss-associated POU3F4 in a sporadic case of congenital hearing loss Tekijä Moteki, Hideaki, Shearer, A Eliot, Izumi, Shuji, Kubota, Yamato, Azaiez, Hela, Booth, Kevin T, Sloan, Christina M, Kolbe, Diana L, Smith, Richard JH, Usami, Shin-ichi

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USH2 caused by GPR98 mutation diagnosed by massively parallel sequencing in advance of the occurrence of visual symptoms Tekijä Moteki, Hideaki, Yoshimura, Hidekane, Azaiez, Hela, Booth, Kevin T., Shearer, A Eliot, Sloan, Christina M., Kolbe, Diana L., Murata, Toshinori, Smith, Richard J. H., Usami, Shin-ichi

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Comprehensive genetic testing with ethnic-specific filtering by allele frequency in a Japanese hearing-loss population Tekijä Moteki, Hideaki, Azaiez, Hela, Booth, Kevin T, Shearer, A Eliot, Sloan, Christina M, Kolbe, Diana L, Nishio, Shin-ya, Hattori, Mitsuru, Usami, Shin-ichi, Smith, Richard J H

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Long-Term Extensions of Randomized Vaccination Trials of ACC-001 and QS-21 in Mild to Moderate Alzheimer’s Disease Tekijä Hüll, Michael, Sadowsky, Carl, Arai, Heii, Leterme, Ghislaine Le Prince, Holstein, Ann, Booth, Kevin, Peng, Yahong, Yoshiyama, Tamotsu, Suzuki, Hideo, Ketter, Nzeera, Liu, Enchi, Ryan, J. Michael

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Long-term safety and tolerability of bapineuzumab in patients with Alzheimer’s disease in two phase 3 extension studies Tekijä Ivanoiu, Adrian, Pariente, Jérémie, Booth, Kevin, Lobello, Kasia, Luscan, Gerald, Hua, Lisa, Lucas, Prisca, Styren, Scot, Yang, Lingfeng, Li, David, Black, Ronald S., Brashear, H. Robert, McRae, Thomas

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Variants in CIB2 cause DFNB48 and not USH1J Tekijä Booth, Kevin T, Kahrizi, Kimia, Babanejad, Mojgan, Daghagh, Hossein, Bademci, Guney, Arzhangi, Sanaz, Zareabdollahi, Davood, Duman, Duygu, El-Amraoui, Aziz, Tekin, Mustafa, Najmabadi, Hossein, Azaiez, Hela, Smith, Richard J

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Novel Loss-of-Function Mutations in COCH Cause Autosomal Recessive Nonsyndromic Hearing Loss Tekijä Booth, Kevin T, Ghaffar, Amama, Rashid, Muhammad, Hovey, Luke T, Hussain, Mureed, Frees, Kathy, Renkes, Erika M, Nishimura, Carla J, Shahzad, Mohsin, Smith, Richard J, Ahmed, Zubair, Azaiez, Hela, Riazuddin, Saima

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Hearing loss caused by a P2RX2 mutation identified in a MELAS family with a coexisting mitochondrial 3243AG mutation Tekijä Moteki, Hideaki, Azaiez, Hela, Booth, Kevin T, Hattori, Mitsuru, Sato, Ai, Sato, Yoshihiko, Motobayashi, Mitsuo, Sloan, Christina M, Kolbe, Diana L, Shearer, A Eliot, Smith, Richard J H, Usami, Shin-ichi

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When transcripts matter: delineating between non-syndromic hearing loss DFNB32 and hearing impairment infertile male syndrome (HIIMS) Tekijä Mohseni, Marzieh, Akbari, Mojdeh, Booth, Kevin T, Babanejad, Mojgan, Azaiez, Hela, Ardalani, Fariba, Arzhangi, Sanaz, Jalalvand, Khadijeh, Nikzat, Nooshin, Ghodratpour, Fatemeh, jamali, payman, Adeli, Omid Ali, Habibi, Haleh, Kahrizi, Kimia, Najmabadi, Hossein

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Detection and confirmation of deafness-causing copy number variations in the STRC gene by massively parallel sequencing and comparative genomic hybridization Tekijä Moteki, Hideaki, Azaiez, Hela, Sloan-Heggen, Christina M, Booth, Kevin, Nishio, Shin-ya, Wakui, Keiko, Yamaguchi, Tomomi, Kolbe, Diana L, Iwasa, Yoh-ichiro, Shearer, A Eliot, Fukushima, Yoshimitsu, Smith, Richard JH, Usami, Shin-ichi

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Novel PTPRQ mutations identified in three congenital hearing loss patients with various types of hearing loss Tekijä Sakuma, Naoko, Moteki, Hideaki, Azaiez, Hela, Booth, Kevin T, Takahashi, Masahiro, Arai, Yasuhiro, Shearer, A Eliot, Sloan, Christina M, Nishio, Shin-ya, Kolbe, Diana L, Iwasaki, Satoshi, Oridate, Nobuhiko, Smith, Richard J H, Usami, Shin-ichi

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Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review Tekijä Beheshtian, Maryam, Babanejad, Mojgan, Azaiez, Hela, Bazazzadegan, Niloofar, Kolbe, Diana, Sloan-Heggen, Christina, Arzhangi, Sanaz, Booth, Kevin, Mohseni, Marzieh, Frees, Kathy, Hossein Azizi, Mohammad, Daneshi, Ahmad, Farhadi, Mohammad, Kahrizi, Kimia, Smith, Richard JH, Najmabadi, Hossein

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