Risultati della ricerca - Booth, Kevin

DFNA5 (GSDME) c.991-15_991-13delTTC: Founder Mutation or Mutational Hotspot? di 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 di 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 di 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 di 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 di 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 di 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 di 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 di 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 di 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 di 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 di 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 di 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 di 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 di 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 di 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 di 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) di 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 di 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 di 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 di 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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