Search Results - Brunner, Han G.
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1
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome by Coenen-Van der Spek, Jet (Author) , den Hoed, Joery (Author) , Snijders Blok, Lot (Author) , Dingemans, Alexander J. M. (Author) , Schijven, Dick (Author) , Nellaker, Christoffer (Author) , Venselaar, Hanka (Author) , Astuti, Galuh D. N. (Author) , Barakat, Tahsin Stefan (Author) , Bebin, E. Martina (Author) , Beck-Wödl, Stefanie (Author) , Beunders, Gea (Author) , Brown, Natasha J. (Author) , Brunet, Theresa (Author) , Brunner, Han G. (Author) , Campeau, Philippe M. (Author) , Čuturilo, Goran (Author) , Gilissen, Christian (Author) , Haack, Tobias B. (Author) , Hüning, Irina (Author) , Husain, Ralf A. (Author) , Kamien, Benjamin (Author) , Lim, Sze Chern (Author) , Lovrecic, Luca (Author) , Magg, Janine (Author) , Maver, Ales (Author) , Miranda, Valancy (Author) , Monteil, Danielle C. (Author) , Ockeloen, Charlotte W. (Author) , Pais, Lynn S. (Author) , Plaiasu, Vasilica (Author) , Raiti, Laura (Author) , Richmond, Christopher (Author) , Rieß, Angelika (Author) , Schwaibold, Eva (Author) , Simon, Marleen E. H. (Author) , Spranger, Stephanie (Author) , Tan, Tiong Yang (Author) , Thompson, Michelle L. (Author) , de Vries, Bert B. A. (Author) , Wilkins, Ella J. (Author) , Willemsen, Marjolein H. (Author) , Francks, Clyde (Author) , Vissers, Lisenka E. L. M. (Author) , Fisher, Simon E. (Author) , Kleefstra, Tjitske (Author) ,
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Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction by Hoed, Joery den (Author) , de Boer, Elke (Author) , Voisin, Norine (Author) , Dingemans, Alexander J. M. (Author) , Guex, Nicolas (Author) , Wiel, Laurens (Author) , Nellaker, Christoffer (Author) , Amudhavalli, Shivarajan M. (Author) , Banka, Siddharth (Author) , Bena, Frederique S. (Author) , Ben-Zeev, Bruria (Author) , Bonagura, Vincent R. (Author) , Bruel, Ange-Line (Author) , Brunet, Theresa (Author) , Brunner, Han G. (Author) , Chew, Hui B. (Author) , Chrast, Jacqueline (Author) , Cimbalistienė, Loreta (Author) , Coon, Hilary (Author) , Délot, Emmanuèlle C. (Author) , Démurger, Florence (Author) , Denommé-Pichon, Anne-Sophie (Author) , Depienne, Christel (Author) , Donnai, Dian (Author) , Dyment, David A. (Author) , Elpeleg, Orly (Author) , Faivre, Laurence (Author) , Gilissen, Christian (Author) , Granger, Leslie (Author) , Haber, Benjamin (Author) , Hachiya, Yasuo (Author) , Abedi, Yasmin Hamzavi (Author) , Hanebeck, Jennifer (Author) , Hehir-Kwa, Jayne Y. (Author) , Horist, Brooke (Author) , Itai, Toshiyuki (Author) , Kotzaeridou, Urania (Author) , Orec, Laura (Author) ,
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Germline AGO2 mutations impair RNA interference and human neurological development by Lessel, Davor (Author) , Zeitler, Daniela M. (Author) , Reijnders, Margot R. F. (Author) , Kazantsev, Andriy (Author) , Hassani Nia, Fatemeh (Author) , Bartholomäus, Alexander (Author) , Martens, Victoria (Author) , Bruckmann, Astrid (Author) , Graus, Veronika (Author) , McConkie-Rosell, Allyn (Author) , McDonald, Marie (Author) , Lozic, Bernarda (Author) , Tan, Ee-Shien (Author) , Gerkes, Erica (Author) , Johannsen, Jessika (Author) , Denecke, Jonas (Author) , Telegrafi, Aida (Author) , Zonneveld-Huijssoon, Evelien (Author) , Lemmink, Henny H. (Author) , Cham, Breana W. M. (Author) , Kovacevic, Tanja (Author) , Ramsdell, Linda (Author) , Foss, Kimberly (Author) , Le Duc, Diana (Author) , Mitter, Diana (Author) , Syrbe, Steffen (Author) , Merkenschlager, Andreas (Author) , Sinnema, Margje (Author) , Panis, Bianca (Author) , Lazier, Joanna (Author) , Osmond, Matthew (Author) , Hartley, Taila (Author) , Mortreux, Jeremie (Author) , Busa, Tiffany (Author) , Missirian, Chantal (Author) , Prasun, Pankaj (Author) , Lüttgen, Sabine (Author) , Mannucci, Ilaria (Author) , Lessel, Ivana (Author) , Schob, Claudia (Author) , Kindler, Stefan (Author) , Pappas, John (Author) , Rabin, Rachel (Author) , Willemsen, Marjolein (Author) , Gardeitchik, Thatjana (Author) , Löhner, Katharina (Author) , Rump, Patrick (Author) , Dias, Kerith-Rae (Author) , Evans, Carey-Anne (Author) , Andrews, Peter Ian (Author) , Roscioli, Tony (Author) , Brunner, Han G. (Author) , Chijiwa, Chieko (Author) , Lewis, M. E. Suzanne (Author) , Abou Jamra, Rami (Author) , Dyment, David A. (Author) , Boycott, Kym M. (Author) , Stegmann, Alexander P. A. (Author) , Kubisch, Christian (Author) , Tan, Ene-Choo (Author) , Mirzaa, Ghayda M. (Author) , McWalter, Kirsty (Author) , Kleefstra, Tjitske (Author) , Pfundt, Rolph (Author) , Ignatova, Zoya (Author) , Meister, Gunter (Author) , Kreienkamp, Hans-Jürgen (Author) ,
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Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy by Maugeri, Alessandra (Author) , Klevering, B. Jeroen (Author) , Rohrschneider, Klaus (Author) , Blankenagel, Anita (Author) , Brunner, Han G. (Author) , Deutman, August F. (Author) , Hoyng, Carel B. (Author) , Cremers, Frans P. M. (Author) ,
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5
The 2588G→C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Starga... by Maugeri, Alessandra (Author) , Driel, Marc A. van (Author) , Pol, Dorien J. R. van de (Author) , Klevering, B. Jeroen (Author) , Haren, Frank J. J. van (Author) , Tijmes, Nel (Author) , Bergen, Arthur A. B. (Author) , Rohrschneider, Klaus (Author) , Blankenagel, Anita (Author) , Pinckers, Alfred J. L. G. (Author) , Dahl, Niklas (Author) , Brunner, Han G. (Author) , Deutman, August F. (Author) , Hoyng, Carel B. (Author) , Cremers, Frans P. M. (Author) ,
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