Search Results - Azaiez, Hela

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

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Advances in Molecular Genetics and the Molecular Biology of Deafness by Nishio, Shin-ya, Schrauwen, Isabelle, Moteki, Hideaki, Azaiez, Hela

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Old gene, new phenotype: Splicing altering variants in CEACAM16 cause recessive non-syndromic hearing impairment by 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 by Booth, Kevin T., Azaiez, Hela, Jahan, Israt, Smith, Richard J. H., Fritzsch, Bernd

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Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East by Romdhane, Lilia, Kefi, Rym, Azaiez, Hela, Halim, Nizar Ben, Dellagi, Koussay, Abdelhak, Sonia

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

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Adult gaucher disease in southern Tunisia: report of three cases by Ben Rhouma, Faten, Kallel, Faten, Kefi, Rym, Cherif, Wafa, Nagara, Majdi, Azaiez, Hela, Jedidi, Ines, Elloumi, Moez, Abdelhak, Sonia, Mseddi, Sondes

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Mutations in LOXHD1 gene cause various types and severities of hearing loss by 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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TBC1D24 Mutation Causes Autosomal Dominant Non-Syndromic Hearing Loss by 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 by 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 by 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 by 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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Variants in CIB2 cause DFNB48 and not USH1J by 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 by 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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Copy number variants are a common cause of non-syndromic hearing loss by Shearer, A Eliot, Kolbe, Diana L, Azaiez, Hela, Sloan, Christina M, Frees, Kathy L, Weaver, Amy E, Clark, Erika T, Nishimura, Carla J, Black-Ziegelbein, E Ann, Smith, Richard J H

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Hearing loss caused by a P2RX2 mutation identified in a MELAS family with a coexisting mitochondrial 3243AG mutation by 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) by 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 by 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 by 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 by 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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