Canlyniadau Chwilio - Deepthi De Silva

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  1. 1
    Mutations in ANTXR1 Cause GAPO Syndrome

    Mutations in ANTXR1 Cause GAPO Syndrome gan Viktor Stránecký, Alexander Hoischen, Hana Hartmannová, Maha S. Zaki, Amit Chaudhary, Enrique Zudaire, Lenka Nosková, Veronika Barešová, Anna Přistoupilová, Kateřina Hodaňová, Jana Sovová, Helena Hůlková, Lenka Piherová, Jayne Y. Hehir‐Kwa, Deepthi De Silva, Manouri P Senanayake, Sameh Farrag, J Zeman, Pavel Martásek, A Baxová, Hanan H. Afifi, Brad St. Croix, Han G. Brunner, Samia A. Temtamy, Stanislav Kmoch

    Cyhoeddwyd 2013
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  2. 2
    Noncoding copy-number variations are associated with congenital limb malformation

    Noncoding copy-number variations are associated with congenital limb malformation gan Ricarda Flöttmann, Bjørt K. Kragesteen, Sinje Geuer, Magdalena Socha, Lila Allou, Anna Sowińska‐Seidler, Laure Bosquillon de Jarcy, Johannes Maximilian Wagner, Aleksander Jamsheer, Barbara Oehl‐Jaschkowitz, Lars Wittler, Deepthi De Silva, Ingo Kurth, Idit Maya, Fernando Santos‐Simarro, Wiebke Hülsemann, Eva Klopocki, Roger Mountford, Alan Fryer, Guntram Borck, Denise Horn, Pablo Lapunzina, Meredith Wilson, Bénédicte Mascrez, Denis Duboule, Stefan Mundlos, Malte Spielmann

    Cyhoeddwyd 2017
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  3. 3
    Mutations in CDC45 , Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

    Mutations in CDC45 , Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis gan Aimée L Fenwick, Maciej Kliszczak, Fay Cooper, Jennie Murray, Luis Sánchez‐Pulido, Stephen R.F. Twigg, Anne Goriely, Simon J. McGowan, Kerry A. Miller, Indira B. Taylor, Clare V. Logan, Sevcan Tuğ Bozdoğan, Sumita Danda, Joanne Dixon, Solaf M. Elsayed, Ezzat Elsobky, Alice Gardham, Mariëtte J.V. Hoffer, Marion Koopmans, Donna M. McDonald‐McGinn, Gijs W.E. Santen, Ravi Savarirayan, Deepthi De Silva, Olivier Vanakker, Steven A. Wall, Louise C. Wilson, Özge Özalp Yüreğir, Elaine H. Zackai, Chris P. Ponting, Andrew P. Jackson, Andrew O.M. Wilkie, Wojciech Niedźwiedź, Louise S. Bicknell

    Cyhoeddwyd 2016
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  4. 4
    Arterial tortuosity syndrome: 40 new families and literature review

    Arterial tortuosity syndrome: 40 new families and literature review gan Aude Beyens, Juliette Albuisson, Annekatrien Boel, Mazen Al‐Essa, Waheed Al-Manea, Damien Bonnet, Özlem Bostan, Odile Boute, Tiffany Busa, N Canham, Ergün Çil, Paul Coucke, Margot A. Cousin, Majed Dasouki, Julie De Backer, Anne De Paepe, Sofie De Schepper, Deepthi De Silva, Koenraad Devriendt, Inge De Wandele, David R. Deyle, Harry C. Dietz, Sophie Dupuis‐Girod, Eudice Fontenot, Björn Fischer‐Zirnsak, Alper Gezdirici, Jamal Ghoumid, Fabienne Giuliano, Neus Baena Díez, Mohammed Z. Haider, Joshua S. Hardin, Xavier Jeunemaı̂tre, Eric W. Klee, Uwe Kornak, Manuel F. Landecho, Anne Debost‐Legrand, Bart Loeys, Stanislas Lyonnet, Helen Michael, Pamela Moceri, Shehla Mohammed, Laura Muiño Mosquera, Sheela Nampoothiri, Karin Pichler, Katrina Prescott, Anna Rajeb, María A. Ramos‐Arroyo, Massimiliano Rossi, Mustafa A. Salih, Mohammed Zain Seidahmed, Élise Schaefer, Elisabeth Steichen‐Gersdorf, Şehime Gülsün Temel, Fahrettin Uysal, Marine Vanhomwegen, Lut Van Laer, Lionel Van Maldergem, David Warner, Andy Willaert, Tom R. Collins, Andrea Taylor, Elaine C. Davis, Yuri A. Zárate, Bert Callewaert

    Cyhoeddwyd 2018
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