Search Results - Rabin, Rachel

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  1. 1
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    Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum by Verbinnen, Iris (Author) , Douzgou Houge, Sofia (Author) , Hsieh, Tzung-Chien (Author) , Lesmann, Hellen (Author) , Kirchhoff, Aron (Author) , Geneviève, David (Author) , Brimble, Elise (Author) , Lenaerts, Lisa (Author) , Haesen, Dorien (Author) , Levy, Rebecca J. (Author) , Thevenon, Julien (Author) , Faivre, Laurence (Author) , Marco, Elysa (Author) , Chong, Jessica X. (Author) , Bamshad, Mike (Author) , Patterson, Karynne (Author) , Mirzaa, Ghayda M. (Author) , Foss, Kimberly (Author) , Dobyns, William (Author) , White, Susan M. (Author) , Pais, Lynn (Author) , O’Heir, Emily (Author) , Itzikowitz, Raphaela (Author) , Donald, Kirsten A. (Author) , Van der Merwe, Celia (Author) , Mussa, Alessandro (Author) , Cervini, Raffaela (Author) , Giorgio, Elisa (Author) , Roscioli, Tony (Author) , Dias, Kerith-Rae (Author) , Evans, Carey-Anne (Author) , Brown, Natasha J. (Author) , Ruiz, Anna (Author) , Trujillo Quintero, Juan Pablo (Author) , Rabin, Rachel (Author) , Pappas, John (Author) , Yuan, Hai (Author) , Lachlan, Katherine (Author) , Thomas, Simon (Author) , Devlin, Anita (Author) , Wright, Michael (Author) , Martin, Richard (Author) , Karwowska, Joanna (Author) , Posmyk, Renata (Author) , Chatron, Nicolas (Author) , Stark, Zornitza (Author) , Heath, Oliver (Author) , Delatycki, Martin (Author) , Buchert, Rebecca (Author) , Korenke, Georg-Christoph (Author) , Ramsey, Keri (Author) , Narayanan, Vinodh (Author) , Grange, Dorothy K. (Author) , Weisenberg, Judith L. (Author) , Haack, Tobias B. (Author) , Karch, Stephanie (Author) , Kipkemoi, Patricia (Author) , Mangi, Moses (Author) , Bindels de Heus, Karen G. C. B. (Author) , de Wit, Marie-Claire Y. (Author) , Barakat, Tahsin Stefan (Author) , Lim, Derek (Author) , Van Winckel, Géraldine (Author) , Spillmann, Rebecca C. (Author) , Shashi, Vandana (Author) , Jacob, Maureen (Author) , Stehr, Antonia M. (Author) , Krawitz, Peter (Author) , Douzgos Houge, Gunnar (Author) , Janssens, Veerle (Author) ,


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  2. 2
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    Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations by Werren, Elizabeth A. (Author) , Peirent, Emily R. (Author) , Jantti, Henna (Author) , Guxholli, Alba (Author) , Srivastava, Kinshuk Raj (Author) , Orenstein, Naama (Author) , Narayanan, Vinodh (Author) , Wiszniewski, Wojciech (Author) , Dawidziuk, Mateusz (Author) , Gawlinski, Pawel (Author) , Umair, Muhammad (Author) , Khan, Amjad (Author) , Khan, Shahid Niaz (Author) , Geneviève, David (Author) , Lehalle, Daphné (Author) , van Gassen, K. L. I. (Author) , Giltay, Jacques C. (Author) , Oegema, Renske (Author) , van Jaarsveld, Richard H. (Author) , Rafiullah, Rafiullah (Author) , Rappold, Gudrun (Author) , Rabin, Rachel (Author) , Pappas, John G. (Author) , Wheeler, Marsha M. (Author) , Bamshad, Michael J. (Author) , Tsan, Yao-Chang (Author) , Johnson, Matthew B. (Author) , Keegan, Catherine E. (Author) , Srivastava, Anshika (Author) , Bielas, Stephanie L. (Author) ,


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  3. 3
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    De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations by Dias, Kerith-Rae (Author) , Carlston, Colleen M. (Author) , Blok, Laura E. R. (Author) , De Hayr, Lachlan (Author) , Nawaz, Urwah (Author) , Evans, Carey-Anne (Author) , Bayrak-Toydemir, Pinar (Author) , Htun, Stephanie (Author) , Zhu, Ying (Author) , Ma, Alan (Author) , Lynch, Sally Ann (Author) , Moorwood, Catherine (Author) , Stals, Karen (Author) , Ellard, Sian (Author) , Bainbridge, Matthew N. (Author) , Friedman, Jennifer (Author) , Pappas, John G. (Author) , Rabin, Rachel (Author) , Nowak, Catherine B. (Author) , Douglas, Jessica (Author) , Wilson, Theodore E. (Author) , Guillen Sacoto, Maria J. (Author) , Mullegama, Sureni V. (Author) , Palculict, Timothy Blake (Author) , Kirk, Edwin P. (Author) , Pinner, Jason R. (Author) , Edwards, Matthew (Author) , Montanari, Francesca (Author) , Graziano, Claudio (Author) , Pippucci, Tommaso (Author) , Dingmann, Bri (Author) , Glass, Ian (Author) , Mefford, Heather C. (Author) , Shimoji, Takeyoshi (Author) , Suzuki, Toshimitsu (Author) , Yamakawa, Kazuhiro (Author) , Streff, Haley (Author) , Schaaf, Christian P. (Author) , Slavotinek, Anne M. (Author) , Voineagu, Irina (Author) , Carey, John C. (Author) , Buckley, Michael F. (Author) , Schenck, Annette (Author) , Harvey, Robert J. (Author) , Roscioli, Tony (Author) ,


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  4. 4
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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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