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Muhammad Farooq

Islamia University of Bahawalpur

19H指数
52论文数
1.2K被引数
收录论文 18
发表时间
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Genetic analysis of epidermolysis bullosa: Identification of mutations in LAMB3 and COL7A1 genes in three families
err2013-10-01
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PREAI
errFarooq, Muhammad; Kurban, Mazen; Iguchi, Ryo; Abbas, Ossama; Fujimoto, Atsushi; Fujikawa, Hiroki; Bourji, Lamah; Sleiman, Rima; Itani, Salam; Succariah, Farah; Kibbi, Abdul Ghani; Shimomura, Yutaka
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Characterization of a novel missense mutation in the prodomain of GDF5, which underlies brachydactyly type C and mild Grebe type chondrodysplasia in a large Pakistani family
err2013-06-29
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PREAI
errFarooq, Muhammad; Nakai, Hiroyuki; Fujimoto, Atsushi; Fujikawa, Hiroki; Kjaer, Klaus Wilbrandt; Baig, Shahid Mahmood; Shimomura, Yutaka
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A novel splice-site ECM1 gene mutation in a Lebanese girl with lipoid proteinosis
err2013-06-23
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PREAI
errAbbas, Ossama; Farooq, Muhammad; El Khoury, Jinane; Kibbi, Abdul-Ghani; Fujikawa, Hiroki; Fujimoto, Atsushi; Shimomura, Yutaka; Kurban, Mazen
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A novel de novo nonsense mutation in the TRPS1 gene in a Japanese patient with tricho-rhino-phalangeal syndrome type I
err2013-04-28
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PREAI
errFarooq, Muhammad; Fujikawa, Hiroki; Fujimoto, Atsushi; Kubo, Yoshiaki; Ito, Masaaki; Shimomura, Yutaka
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A Homozygous Frameshift Mutation in the HOXC13 Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family
err2013-03-05
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errFarooq, Muhammad; Kurban, Mazen; Fujimoto, Atsushi; Fujikawa, Hiroki; Abbas, Ossama; Nemer, Georges; Saliba, Jessica; Sleiman, Rima; Tofaili, Mona; Kibbi, Abdul-Ghani; Ito, Masaaki; Shimomura, Yutaka
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Acrodermatitis Continua of Hallopeau Is a Clinical Phenotype of DITRA: Evidence that It Is a Variant of Pustular Psoriasis
err2013-02-15
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PREAI
errAbbas, Ossama; Itani, Salam; Ghosn, Samer; Kibbi, Abdul Ghani; Fidawi, Georges; Farooq, Muhammad; Shimomura, Yutaka; Kurban, Mazen
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GJB6, of which mutations underlie Clouston syndrome, is a potential direct target gene of p63
err2013-02-01
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PREAI
errFujimoto, Atsushi; Kurban, Mazen; Nakamura, Motonobu; Farooq, Muhammad; Fujikawa, Hiroki; Kibbi, Abdul-Ghani; Ito, Masaaki; Dahdah, Maurice; Matta, Mona; Diab, Hassan; Shimomura, Yutaka
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A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis角蛋白K71基因的螺旋起始基序内的错义突变是常染色体显性遗传性羊毛/毛发不足的基础
err2012-10-01
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errOAAI
errFujimoto, Atsushi; Farooq, Muhammad; Fujikawa, Hiroki; Inoue, Asuka; Ohyama, Manabu; Ehama, Ritsuko; Nakanishi, Jotaro; Hagihara, Motofumi; Iwabuchi, Tokuro; Aoki, Junken; Ito, Masaaki; Shimomura, Yutaka
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A novel mutation in the PLCD1 gene, which leads to an aberrant splicing event, underlies autosomal recessive leuconychia
err2012-07-05
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PREAI
errFarooq, M.; Kurban, M.; Abbas, O.; Obeidat, O.; Fujikawa, H.; Kibbi, A. -G.; Fujimoto, A.; Shimomura, Y.
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Characterization of the Human Hair Keratin-Associated Protein 2 (KRTAP2) Gene Family
err2012-07-01
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errOAAI
errFujikawa, Hiroki; Fujimoto, Atsushi; Farooq, Muhammad; Ito, Masaaki; Shimomura, Yutaka
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Identification of Two Novel Mutations in SLC29A3 Encoding an Equilibrative Nucleoside Transporter (hENT3) in Two Distinct Syrian Families with H Syndrome: Expression Studies of SLC29A3 (hENT3) in Human Skin
err2012-05-31
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PREAI
errFarooq, Muhammad; Moustafa, Rasha Mohammad; Fujimoto, Atsushi; Fujikawa, Hiroki; Abbas, Ossama; Kibbi, Abdul Ghani; Kurban, Mazen; Shimomura, Yutaka
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Ovine PrP transgenic Drosophila show reduced locomotor activity and decreased survival
err2012-05-29
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PREAI
errThackray, Alana M.; Muhammad, Farooq; Zhang, Chang; Di, Ying; Jahn, Thomas R.; Landgraf, Matthias; Crowther, Damian C.; Evers, Jan Felix; Bujdoso, Raymond
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A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function
err2012-05-01
err156
errOAAI
errHussain, Muhammad Sajid; Baig, Shahid Mahmood; Neumann, Sascha; Nuernberg, Gudrun; Farooq, Muhammad; Ahmad, Ilyas; Alef, Thomas; Hennies, Hans Christian; Technau, Martin; Altmueller, Janine; Frommolt, Peter; Thiele, Holger; Noegel, Angelika Anna; Nuernberg, Peter
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A Missense Mutation in the Death Domain of EDAR Abolishes the Interaction with EDARADD and Underlies Hypohidrotic Ectodermal Dysplasia
err2011-08-29
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PREAI
errMasui, Yukiko; Farooq, Muhammad; Sato, Nobuyuki; Fujimoto, Atsushi; Fujikawa, Hiroki; Ito, Masaaki; Shimomura, Yutaka
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