檢索結果 - Sara Halbach

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  1. 1
    Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth

    Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth 由 Nicole Revençu, Laurence M. Boon, A. Dompmartin, Paul N.M.A. Rieu, W Busch, Josée Dubois, Francesca Forzano, Johanna M. van Hagen, Sara Halbach, A. Kuechler, A.M.A. Lachmeijer, Jyrki Lähde, Laura Russell, K. O. J. Simola, John B. Mulliken, Miikka Vikkula

    出版 2013
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  2. 2
    Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals

    Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals 由 Kai Lee Yap, Amy E. Knight Johnson, David S. Fischer, Priscilla Kandikatla, Jacea Deml, Viswateja Nelakuditi, Sara Halbach, George Jeha, Lindsay C. Burrage, Olaf A. Bodamer, Valeria C. Benavides, Andrea M. Lewis, Sian Ellard, Pratik Shah, Declan Cody, Alejandro Díaz, Aishwarya Devarajan, Lisa Truong, Siri Atma W. Greeley, Diva D. De Leó-Crutchlow, Andrew C. Edmondson, Soma Das, Paul Thornton, Darrel Waggoner, Daniela del Gaudio

    出版 2018
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  3. 3
    RAD21 Mutations Cause a Human Cohesinopathy

    RAD21 Mutations Cause a Human Cohesinopathy 由 Matthew A. Deardorff, Jonathan J. Wilde, Melanie Albrecht, Emma Dickinson, Stephanie Tennstedt, Diana Braunholz, Maren Mönnich, Yuqian Yan, Weizhen Xu, María Concepción Gil‐Rodríguez, Dinah Clark, Hákon Hákonarson, Sara Halbach, Laura Daniela Michelis, Abhinav Rampuria, Eva Rossier, Stephanie Spranger, Lionel Van Maldergem, Sally Ann Lynch, Gabriele Gillessen‐Kaesbach, Hermann‐Josef Lüdecke, Robert G. Ramsay, Michael J. McKay, Ian D. Krantz, Huiling Xu, Julia A. Horsfield, Frank J. Kaiser

    出版 2012
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  4. 4
    Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder

    Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder 由 Sureni V. Mullegama, Jill A. Rosenfeld, Carmen Orellana, Bregje W.M. van Bon, Sara Halbach, Elena Repnikova, Lauren Brick, Chumei Li, Lucie Dupuis, Mónica Roselló, Swaroop Aradhya, Dimitri J. Stavropoulos, Kandamurugu Manickam, Elyse Mitchell, Jennelle C. Hodge, Michael E. Talkowski, James F. Gusella, Kory Keller, Jonathan Zonana, Stuart Schwartz, Robert E. Pyatt, Darrel Waggoner, Lisa G. Shaffer, Angela E. Lin, Bert B.A. de Vries, Roberto Mendoza-Londoño, Sarah H. Elsea

    出版 2013
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  5. 5
    The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

    The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant 由 David A. Koolen, Rolph Pfundt, Katrin Linda, Gea Beunders, Hermine E. Veenstra‐Knol, Jessie H. Conta, Ana María Fortuna, Gabriele Gillessen‐Kaesbach, Sarah Dugan, Sara Halbach, Omar Abdul‐Rahman, Heather M Winesett, Wendy K. Chung, Marguerite B. Dalton, Petia Dimova, Teresa Mattina, Katrina Prescott, Hui Z. Zhang, Howard M. Saal, Jayne Y. Hehir‐Kwa, Marjolein H. Willemsen, Charlotte W. Ockeloen, Marjolijn C.J. Jongmans, Nathalie Van der Aa, Pinella Failla, Concetta Barone, Emanuela Avola, Alice S. Brooks, Sarina G. Kant, Erica H. Gerkes, Helen V. Firth, Katrin Õunap, Lynne M. Bird, Diane Masser‐Frye, Jennifer Friedman, Modupe A Sokunbi, Abhijit Dixit, Miranda Splitt, Mary K. Kukolich, Julie McGaughran, Bradley P. Coe, Jesús Flórez, Nael Nadif Kasri, Han G. Brunner, Elizabeth M. Thompson, Jozef Gécz, Corrado Romano, Evan E. Eichler, Bert BA de Vries

    出版 2015
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  6. 6
    MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

    MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis 由 Christopher Chun Yu Mak, Dan Doherty, Angela E. Lin, Nancy Végas, Megan T. Cho, Géraldine Viot, Clémantine Dimartino, James D. Weisfeld‐Adams, Davor Lessel, Shelagh Joss, Chumei Li, Claudia Gonzaga‐Jauregui, Yuri A. Zárate, Nadja Ehmke, Denise Horn, Caitlin Troyer, Sarina G. Kant, Youngha Lee, Gisele E. Ishak, Gordon Leung, Amanda Barone Pritchard, Sandra Yang, Eric G. Bend, Francesca Filippini, Chelsea Roadhouse, Nicolas Lebrun, Michele G. Mehaffey, Pierre‐Marie Martin, Benjamin J. Apple, Francisca Millan, Oliver Puk, Mariëtte J.V. Hoffer, Lindsay B. Henderson, Ruth McGowan, Ingrid M. Wentzensen, Steven Lim Cho Pei, Farah Zahir, Mullin H.C. Yu, William T. Gibson, Ann Seman, Marcie Steeves, Jill R. Murrell, Sabine Luettgen, E. Nicolás Francisco, Tim M. Strom, Louise Amlie‐Wolf, Angela M. Kaindl, William G. Wilson, Sara Halbach, Lina Basel‐Vanagaite, Noa Lev-El, Jonas Denecke, Lisenka E.L.M. Vissers, Kelly Radtke, Jamel Chelly, Elaine H. Zackai, Jan M. Friedman, Michael J. Bamshad, Deborah A. Nickerson, Russell R. Reid, Koenraad Devriendt, Jong‐Hee Chae, Elliot Stolerman, Carey McDougall, Zöe Powis, Thierry Bienvenu, Tiong Yang Tan, Naama Orenstein, William B. Dobyns, Joseph T.C. Shieh, Murim Choi, Darrel Waggoner, Karen W. Gripp, Michael Parker, Joan M. Stoler, Stanislas Lyonnet, Valérie Cormier‐Daire, David Viskochil, Trevor L. Hoffman, Jeanne Amiel, Brian Hon‐Yin Chung, Christopher T. Gordon

    出版 2019
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  7. 7
    Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

    Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders 由 Elisa Calì, Tania Quirin, Clarissa Rocca, Stéphanie Efthymiou, Antonella Riva, Dana Marafi, Maha S. Zaki, Mohnish Suri, Roberto Domínguez, Hasnaa M. Elbendary, Shahryar Alavi, Mohamed S. Abdel‐Hamid, Heba Morsy, Frédéric Tran Mau‐Them, Mathilde Nizon, Pavel Tesner, Lukáš Ryba, Faisal Zafar, Nuzhat Rana, Nebal Waill Saadi, Zahra Firoozfar, Pınar Gençpinar, Bülent Ünay, Canan Ustun, Ange‐Line Bruel, Christine Coubes, Jennifer Stefanich, Özlem Sezer, Emanuele Agolini, Antonio Novelli, Gessica Vasco, Donatella Lettori, Mathieu Milh, Laurent Villard, Shimriet Zeidler, Henry Opperman, Vincent Strehlow, Mahmoud Y. Issa, Hebatallah El Khassab, Prem Chand, Shahnaz Ibrahim, Ali Nejad-Rashidi, Mohammad Miryounesi, Pegah Larki, Jennifer Morrison, Ingrid Cristian, Isabelle Thiffault, Nicole Bertsch, Grace Noh, John Pappas, E Morán, Nikolaos M. Marinakis, Joanne Traeger‐Synodinos, Susan Hosseini, Mohammad Reza Abbaszadegan, Roseline Caumes, Lisenka E.L.M. Vissers, Maedeh Neshatdoust, Mostafa Zohour Montazer, Elmostafa El Fahime, Christin Canavati, Lara Kamal, Moien Kanaan, Omar Askander, V. Yu. Voinova, Olga Levchenko, Shahzhad Haider, Sara Halbach, Elias Rayana Maia, Mansoor Salehi, Jain Vivek, Sanjukta Tawde, Viveka Santhosh Reddy Challa, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Lucas Alves Victor, Benito Pinero-Banos, Jennifer Hague, Heba Ahmed Ei-Awady, Adélia Maria de Miranda Henriques‐Souza, Huma Arshad Cheema, Muhammad Nadeem Anjum, Sara Idkaidak, Firas Alqarajeh, Osama Atawneh, Hagar Mor‐Shaked, Tamar Harel, Giovanni Zifarelli, Peter Bauer, Fernando Kok, João Paulo Kitajima, Fabíola Paoli Monteiro, Juliana Alves Josahkian, Gaétan Lesca, Nicolas Chatron, Dorothe Ville, David Murphy, Jeffrey L. Neul, Sureni V. Mullegama, Amber Begtrup

    出版 2024
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