檢索結果 - Amjad Farooq
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Structural and Functional Diversity of Estrogen Receptor Ligands 由 Amjad Farooq
出版 2015Revisão -
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MASP1 Mutations in Patients with Facial, Umbilical, Coccygeal, and Auditory Findings of Carnevale, Malpuech, OSA, and Michels Syndromes 由 Aslı Sırmacı, Tom Walsh, Hatice Akay, Michail Spiliopoulos, Yıldırım Bayezıt Şakalar, Aylin Hasanefendioğlu-Bayrak, Duygu Duman, Amjad Farooq, Mary‐Claire King, Mustafa Tekin
出版 2010Artigo -
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Identification, basic characterization and evolutionary analysis of differentially spliced mRNA isoforms of human YAP1 gene 由 Christian J. Gaffney, Tsutomu Oka, Virginia Mazack, Dror Hilman, Uri Gat, Tomoki Muramatsu, Johji Inazawa, Alicia Golden, David J. Carey, Amjad Farooq, Gerard Tromp, Marius Sudol
出版 2012Artigo -
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SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency 由 Adriana Rebelo, Dimah Saade, Cláudia V. Pereira, Amjad Farooq, Tyler C. Huff, Lisa Abreu, Carlos T. Moraes, Diana Mnatsakanova, Katherine D. Mathews, Hua Yang, Eric A. Schon, Stephan Züchner, Michael E. Shy
出版 2017Artigo -
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A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation 由 M’hamed Grati, Imen Chakchouk, Qi Ma, Mariem Ben Saïd, Alexandra A. DeSmidt, Nouha Turki, Denise Yan, Aissette Baanannou, Rahul Mittal, Nabil Driss, Susan H. Blanton, Amjad Farooq, Zhongmin Lu, Xue Zhong Liu, Saber Masmoudi
出版 2015Artigo -
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PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum 由 Matthis Synofzik, Michael Gonzalez, Charles Marques Lourenço, Marie Coutelier, Tobias B. Haack, Adriana Rebelo, Didier Hannequin, Tim M. Strom, Holger Prokisch, Christoph Kernstock, Alexandra Dürr, Lüdger Schöls, Marcos M. Lima-Martínez, Amjad Farooq, Rebecca Schüle, Giovanni Stévanin, Wilson Marques, Stephan Züchner
出版 2013Artigo -
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Y65C Missense Mutation in the WW Domain of the Golabi-Ito-Hall Syndrome Protein PQBP1 Affects Its Binding Activity and Deregulates Pre-mRNA Splicing 由 Victor Tapia, Emilia Nicolaescu, Caleb B. McDonald, Valeria Musi, Tsutomu Oka, Yujin Inayoshi, Adam C. Satteson, Virginia Mazack, Jasper E. Humbert, Christian J. Gaffney, Monique Beullens, Charles E. Schwartz, Christiane Landgraf, Rudolf Volkmer, Annalisa Pastore, Amjad Farooq, Mathieu Bollen, Marius Sudol
出版 2010Artigo -
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FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing 由 Oscar Diaz‐Horta, Asli Subasioglu-Uzak, M’hamed Grati, Alexandra A. DeSmidt, Joseph Foster, Lei Cao, Güney Bademci, Suna Tokgöz-Yılmaz, Duygu Duman, Filiz Başak Cengiz, Clemer Abad, Rahul Mittal, Susan H. Blanton, Xue Z. Liu, Amjad Farooq, Katherina Walz, Zhongmin Lu, Mustafa Tekin
出版 2014Artigo -
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ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice 由 Oscar Diaz‐Horta, Clemer Abad, Levent Sennaroğlu, Joseph Foster, Alexandra A. DeSmidt, Güney Bademci, Suna Tokgöz-Yılmaz, Duygu Duman, Filiz Başak Cengiz, M’hamed Grati, Suat Fítöz, Xue Z. Liu, Amjad Farooq, Faiqa Imtiaz, Benjamin Currall, Cynthia C. Morton, Michiru Nishita, Yasuhiro Minami, Zhongmin Lu, Katherina Walz, Mustafa Tekin
出版 2016Artigo -
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Whole-Exome Sequencing Links a Variant in DHDDS to Retinitis Pigmentosa 由 Stephan Züchner, Julia E. Dallman, Rong Wen, Gary W. Beecham, Adam C. Naj, Amjad Farooq, Martin Kohli, Patrice L. Whitehead, William Hulme, Ioanna Konidari, Yvonne J. K. Edwards, Guiqing Cai, Inga Peter, David Seo, Joseph D. Buxbaum, Jonathan L. Haines, Susan H. Blanton, Juan I. Young, Eduardo C. Alfonso, Jeffery M. Vance, Byron L. Lam, Margaret A Pericak‐Vance
出版 2011Artigo
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