Zobrazuji výsledky 1 - 19 z 19 pro vyhledávání 'Arif O. Khan', doba hledání: 0,12 s. Upřesnit hledání
  1. 1
    ADAMTS18-related anterior segment dysgenesis mistaken as Axenfeld–Rieger syndrome

    ADAMTS18-related anterior segment dysgenesis mistaken as Axenfeld–Rieger syndrome Autor Arif O Khan

    Vydáno 2023-01-01
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  2. 2
    A microdeletion in the GRHL2 Gene in two unrelated patients with congenital fibrosis of the extra ocular muscles

    A microdeletion in the GRHL2 Gene in two unrelated patients with congenital fibrosis of the extra ocular muscles Autor Khaled K. Abu-Amero, Altaf A. Kondkar, Arif O. Khan

    Vydáno 2017-11-01
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  3. 3
    Anterior segment dysgenesis: Insights into the genetics and pathogenesis

    Anterior segment dysgenesis: Insights into the genetics and pathogenesis Autor Sushmita Kaushik, Suneeta Dubey, Sandeep Choudhary, Ria Ratna, Surinder S Pandav, Arif O Khan

    Vydáno 2022-01-01
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  4. 4
    Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination

    Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination Autor Arif O. Khan, Lama AlAbdi, Nisha Patel, Rana Helaby, Mais Hashem, Firdous Abdulwahab, Fahad B. AlBadr, Fowzan S. Alkuraya

    Vydáno 2021-05-01
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  5. 5
    A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula

    A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula Autor Arif O. Khan, Elvir Becirovic, Christian Betz, Christine Neuhaus, Janine Altmüller, Lisa Maria Riedmayr, Susanne Motameny, Gudrun Nürnberg, Peter Nürnberg, Hanno J. Bolz

    Vydáno 2017-05-01
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  6. 6
    A Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts.

    A Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts. Autor Xiaodong Jiao, Firoz Kabir, Bushra Irum, Arif O Khan, Qiwei Wang, David Li, Asma A Khan, Tayyab Husnain, Javed Akram, Sheikh Riazuddin, J Fielding Hejtmancik, S Amer Riazuddin

    Vydáno 2016-01-01
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  7. 7
    Correction: Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts.

    Correction: Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts. Autor Xiaodong Jiao, Shahid Y Khan, Bushra Irum, Arif O Khan, Qiwei Wang, Firoz Kabir, Asma A Khan, Tayyab Husnain, Javed Akram, Sheikh Riazuddin, J Fielding Hejtmancik, S Amer Riazuddin

    Vydáno 2017-01-01
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  8. 8
    Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts.

    Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts. Autor Xiaodong Jiao, Shahid Y Khan, Bushra Irum, Arif O Khan, Qiwei Wang, Firoz Kabir, Asma A Khan, Tayyab Husnain, Javed Akram, Sheikh Riazuddin, J Fielding Hejtmancik, S Amer Riazuddin

    Vydáno 2015-01-01
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  9. 9
    A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)-creating mutation

    A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)-creating mutation Autor Nisha Patel, Arif O. Khan, Maher Al-Saif, Walid N. Moghrabi, Balsam M. AlMaarik, Niema Ibrahim, Firdous Abdulwahab, Mais Hashem, Tarfa Alshidi, Eman Alobeid, Rana A. Alomar, Saad Al-Harbi, Mohamed Abouelhoda, Khalid S. A. Khabar, Fowzan S. Alkuraya

    Vydáno 2017-07-01
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  10. 10
    Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts.

    Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts. Autor Bushra Irum, Shahid Y Khan, Muhammad Ali, Haiba Kaul, Firoz Kabir, Bushra Rauf, Fareeha Fatima, Raheela Nadeem, Arif O Khan, Saif Al Obaisi, Muhammad Asif Naeem, Idrees A Nasir, Shaheen N Khan, Tayyab Husnain, Sheikh Riazuddin, Javed Akram, Allen O Eghrari, S Amer Riazuddin

    Vydáno 2016-01-01
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  11. 11
    Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts.

    Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts. Autor Bushra Irum, Shahid Y Khan, Muhammad Ali, Muhammad Daud, Firoz Kabir, Bushra Rauf, Fareeha Fatima, Hira Iqbal, Arif O Khan, Saif Al Obaisi, Muhammad Asif Naeem, Idrees A Nasir, Shaheen N Khan, Tayyab Husnain, Sheikh Riazuddin, Javed Akram, Allen O Eghrari, S Amer Riazuddin

    Vydáno 2016-01-01
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  12. 12
    Correction: Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts.

    Correction: Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts. Autor Bushra Irum, Shahid Y Khan, Muhammad Ali, Muhammad Daud, Firoz Kabir, Bushra Rauf, Fareeha Fatima, Hira Iqbal, Arif O Khan, Saif Al Obaisi, Muhammad Asif Naeem, Idrees A Nasir, Shaheen N Khan, Tayyab Husnain, Sheikh Riazuddin, Javed Akram, Allen O Eghrari, S Amer Riazuddin

    Vydáno 2017-01-01
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  13. 13
    Correction: New Findings in a Global Approach to Dissect the Whole Phenotype of Gene Mutations.

    Correction: New Findings in a Global Approach to Dissect the Whole Phenotype of Gene Mutations. Autor Mustafa A. Salih, Emeline Mundwiller, Arif O. Khan, Abdulmajeed AlDrees, Salah A. Elmalik, Hamdy H. Hassan, Mohammed Al-Owain, Hisham M. S. Alkhalidi, Istvan Katona, Mohammad M. Kabiraj, Roman Chrast, Amal Y. Kentab, Hamad Alzaidan, Richard J. Rodenburg, Thomas M. Bosley, Joachim Weis, Michel Koenig, Giovanni Stevanin, Hamid Azzedine

    Vydáno 2013-01-01
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  14. 14
    New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations.

    New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations. Autor Mustafa A Salih, Emeline Mundwiller, Arif O Khan, Abdulmajeed AlDrees, Salah A Elmalik, Hamdy H Hassan, Mohammed Al-Owain, Hisham M S Alkhalidi, Istvan Katona, Mohammad M Kabiraj, Roman Chrast, Amal Y Kentab, Hamad Alzaidan, Richard J Rodenburg, Thomas M Bosley, Joachim Weis, Michel Koenig, Giovanni Stevanin, Hamid Azzedine

    Vydáno 2013-01-01
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  15. 15
    FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1

    FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1 Autor Shahid Y. Khan, Shivakumar Vasanth, Firoz Kabir, John D. Gottsch, Arif O. Khan, Raghothama Chaerkady, Mei-Chong W. Lee, Carmen C. Leitch, Zhiwei Ma, Julie Laux, Rafael Villasmil, Shaheen N. Khan, Sheikh Riazuddin, Javed Akram, Robert N. Cole, C. Conover Talbot, Nader Pourmand, Norann A. Zaghloul, J. Fielding Hejtmancik, S. Amer Riazuddin

    Vydáno 2016-04-01
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  16. 16
    Loss of the collagen IV modifier prolyl 3-hydroxylase 2 causes thin basement membrane nephropathy

    Loss of the collagen IV modifier prolyl 3-hydroxylase 2 causes thin basement membrane nephropathy Autor Hande Aypek, Christoph Krisp, Shun Lu, Shuya Liu, Dominik Kylies, Oliver Kretz, Guochao Wu, Manuela Moritz, Kerstin Amann, Kerstin Benz, Ping Tong, Zheng-mao Hu, Sulaiman M. Alsulaiman, Arif O. Khan, Maik Grohmann, Timo Wagner, Janina Müller-Deile, Hartmut Schlüter, Victor G. Puelles, Carsten Bergmann, Tobias B. Huber, Florian Grahammer

    Vydáno 2022-05-01
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  17. 17
    Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.

    Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies. Autor Tobias Eisenberger, Christine Neuhaus, Arif O Khan, Christian Decker, Markus N Preising, Christoph Friedburg, Anika Bieg, Martin Gliem, Peter Charbel Issa, Frank G Holz, Shahid M Baig, Yorck Hellenbroich, Alberto Galvez, Konrad Platzer, Bernd Wollnik, Nadja Laddach, Saeed Reza Ghaffari, Maryam Rafati, Elke Botzenhart, Sigrid Tinschert, Doris Börger, Axel Bohring, Julia Schreml, Stefani Körtge-Jung, Chayim Schell-Apacik, Khadijah Bakur, Jumana Y Al-Aama, Teresa Neuhann, Peter Herkenrath, Gudrun Nürnberg, Peter Nürnberg, John S Davis, Andreas Gal, Carsten Bergmann, Birgit Lorenz, Hanno J Bolz

    Vydáno 2013-01-01
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  18. 18
    Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases

    Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases Autor Lama AlAbdi, Hanan E. Shamseldin, Ebtissal Khouj, Rana Helaby, Bayan Aljamal, Mashael Alqahtani, Aisha Almulhim, Halima Hamid, Mais O. Hashem, Firdous Abdulwahab, Omar Abouyousef, Amal Jaafar, Tarfa Alshidi, Mohammed Al-Owain, Amal Alhashem, Saeed Al Tala, Arif O. Khan, Elham Mardawi, Hisham Alkuraya, Eissa Faqeih, Manal Afqi, Salwa Alkhalifi, Zuhair Rahbeeni, Samya T. Hagos, Wijdan Al-Ahmadi, Seba Nadeef, Sateesh Maddirevula, Khalid S. A. Khabar, Alexander Putra, Angel Angelov, Changsook Park, Ana M. Reyes-Ramos, Husen Umer, Ikram Ullah, Patrick Driguez, Yoshinori Fukasawa, Ming Sin Cheung, Imed Eddine Gallouzi, Fowzan S. Alkuraya

    Vydáno 2023-12-01
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  19. 19
    The genomic landscape of rare disorders in the Middle East

    The genomic landscape of rare disorders in the Middle East Autor Maha El Naofal, Sathishkumar Ramaswamy, Ali Alsarhan, Ahmed Nugud, Fatima Sarfraz, Hiba Janbaz, Alan Taylor, Ruchi Jain, Nour Halabi, Sawsan Yaslam, Roudha Alfalasi, Shruti Shenbagam, Fatma Rabea, Martin Bitzan, Lemis Yavuz, Deena Wafadari, Hamda Abulhoul, Shiva Shankar, Munira Al Maazmi, Ruba Rizk, Zeinab Alloub, Haitham Elbashir, Mohamed O. E. Babiker, Nidheesh Chencheri, Ammar AlBanna, Meshal Sultan, Mohamed El Bitar, Safeena Kherani, Nandu Thalange, Sattar Alshryda, Roberto Di Donato, Christos Tzivinikos, Ibrar Majid, Alexandra F. Freeman, Corina Gonzalez, Arif O. Khan, Hisham Hamdan, Walid Abuhammour, Mohamed AlAwadhi, Abdulla AlKhayat, Alawi Alsheikh-Ali, Ahmad N. Abou Tayoun

    Vydáno 2023-01-01
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