检索结果 - Ataf Sabir

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  1. 1
    Risk Factors for Severe Renal Disease in Bardet–Biedl Syndrome

    Risk Factors for Severe Renal Disease in Bardet–Biedl Syndrome 由 Elizabeth Forsythe, Kathryn Sparks, Sunayna Best, Sarah Borrows, Bethan E. Hoskins, Ataf Sabir, Timothy Barrett, Denise Williams, Shehla Mohammed, David Goldsmith, David V. Milford, Detlef Böckenhauer, Lukas Foggensteiner, Philip L. Beales

    出版 2016
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  2. 2
    Influence of autozygosity on common disease risk across the phenotypic spectrum

    Influence of autozygosity on common disease risk across the phenotypic spectrum 由 Daniel Malawsky, Eva van Walree, Benjamin Meir Jacobs, Teng Hiang Heng, Qin Huang, Ataf Sabir, Saadia Rahman, Saghira Malik Sharif, Ahsan Khan, Maša Umićević Mirkov, Hiroyuki Kuwahara, Xin Gao, Fowzan S. Alkuraya, Daniëlle Posthuma, William G. Newman, Chris Griffiths, Rohini Mathur, David A. van Heel, Sarah Finer, Jared O’Connell, Hilary C. Martin

    出版 2023
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  3. 3
    Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia

    Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia 由 Dewi Astuti, Ataf Sabir, Piers Fulton, Malgorzata Zatyka, Denise Williams, Carol Hardy, Gabriella Milan, Francesca Favaretto, Patrick Yu‐Wai‐Man, Julia Rohayem, Miguel López de Heredia, Tamara Hershey, Lisbeth Tranebjærg, Jianhua Chen, Annabel Chaussenot, Virginia Nunes, Bess A. Marshall, Susan McAfferty, Vallo Tillmann, Pietro Maffei, Véronique Paquis‐Flucklinger, Tarekign Geberhiwot, Wojciech Młynarski, Kay Parkinson, Virginie Picard, Gema Esteban Bueno, Renuka Dias, Amy Arnold, Caitlin Richens, Richard Paisey, Fumihiko Urano, Robert K. Semple, Richard Sinnott, Timothy Barrett

    出版 2017
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  4. 4
    SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling

    SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling 由 Yuh‐Charn Lin, Marcello Niceta, Valentina Muto, Barbara Vona, Alistair T. Pagnamenta, Reza Maroofian, Christian Beetz, H. van Duyvenvoorde, Maria Lisa Dentici, Peter Lauffer, Sadeq Vallian, Andrea Ciolfi, Simone Pizzi, Peter Bauer, Nana‐Maria Grüning, Emanuele Bellacchio, Andrea Del Fattore, Stefania Petrini, Ranad Shaheen, Dov Tiosano, Rana Halloun, Ben Pode‐Shakked, Hatice Mutlu Albayrak, Emregül Işık, Jan M. Wit, Marcus Dittrich, Bruna Lucheze Freire, Débora Romeo Bertola, Alexander A.L. Jorge, Ortal Barel, Ataf Sabir, Amal M.J. Al Tenaiji, Sulaima Mhd Taji, Nouriya Al‐Sannaa, Hind Y. Al-Abdulwahed, M. Cristina Digilio, Melita Irving, Yair Anikster, Gandham SriLakshmi Bhavani, Katta M. Girisha, Thomas Haaf, Jenny C. Taylor, Bruno Dallapiccola, Fowzan S. Alkuraya, Ruey‐Bing Yang, Marco Tartaglia

    出版 2020
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