Search Results - White, Susan M.

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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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    Genome sequencing for diagnosing rare diseases by Wojcik, Monica H. (Author) , Lemire, Gabrielle (Author) , Berger, Eva (Author) , Zaki, Maha S. (Author) , Wissmann, Mariel (Author) , Win, Wathone (Author) , White, Susan M. (Author) , Weisburd, Ben (Author) , Wieczorek, Dagmar (Author) , Waddell, Leigh B. (Author) , Verboon, Jeffrey M. (Author) , VanNoy, Grace E. (Author) , Töpf, Ana (Author) , Tan, Tiong Yang (Author) , Syrbe, Steffen (Author) , Strehlow, Vincent (Author) , Straub, Volker (Author) , Stenton, Sarah L. (Author) , Snow, Hana (Author) , Singer-Berk, Moriel (Author) , Silver, Josh (Author) , Shril, Shirlee (Author) , Seaby, Eleanor G. (Author) , Schneider, Ronen (Author) , Sankaran, Vijay G. (Author) , Sanchis-Juan, Alba (Author) , Russell, Kathryn A. (Author) , Reinson, Karit (Author) , Ravenscroft, Gianina (Author) , Radtke, Maximilian (Author) , Popp, Denny (Author) , Polster, Tilman (Author) , Platzer, Konrad (Author) , Pierce, Eric A. (Author) , Place, Emily M. (Author) , Pajusalu, Sander (Author) , Pais, Lynn (Author) , Õunap, Katrin (Author) , Osei-Owusu, Ikeoluwa (Author) , Opperman, Henry (Author) , Okur, Volkan (Author) , Oja, Kaisa Teele (Author) , O’Leary, Melanie (Author) , O’Heir, Emily (Author) , Morel, Chantal F. (Author) , Merkenschlager, Andreas (Author) , Marchant, Rhett G. (Author) , Mangilog, Brian E. (Author) , Madden, Jill A. (Author) , MacArthur, Daniel (Author) , Lovgren, Alysia (Author) , Lerner-Ellis, Jordan P. (Author) , Lin, Jasmine (Author) , Laing, Nigel (Author) , Hildebrandt, Friedhelm (Author) , Hentschel, Julia (Author) , Groopman, Emily (Author) , Goodrich, Julia (Author) , Gleeson, Joseph G. (Author) , Ghaoui, Roula (Author) , Genetti, Casie A. (Author) , Gburek-Augustat, Janina (Author) , Gazda, Hanna T. (Author) , Ganesh, Vijay S. (Author) , Ganapathi, Mythily (Author) , Gallacher, Lyndon (Author) , Fu, Jack M. (Author) , Evangelista, Emily (Author) , England, Eleina (Author) , Donkervoort, Sandra (Author) , DiTroia, Stephanie (Author) , Cooper, Sandra T. (Author) , Chung, Wendy K. (Author) , Christodoulou, John (Author) , Chao, Katherine R. (Author) , Cato, Liam D. (Author) , Bujakowska, Kinga M. (Author) , Bryen, Samantha J. (Author) , Brand, Harrison (Author) , Bönnemann, Carsten G. (Author) , Beggs, Alan H. (Author) , Baxter, Samantha M. (Author) , Bartolomaeus, Tobias (Author) , Agrawal, Pankaj B. (Author) , Talkowski, Michael (Author) , Austin-Tse, Christina (Author) , Jamra, Rami Abou (Author) , Rehm, Heidi L. (Author) , O’Donnell-Luria, Anne (Author) ,


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  3. 3
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    De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias by Harms, Frederike Leonie (Author) , Dingemans, Alexander J. M. (Author) , Hempel, Maja (Author) , Pfundt, Rolph (Author) , Bierhals, Tatjana (Author) , Casar, Christian (Author) , Müller, Christian (Author) , Niermeijer, Jikke-Mien F. (Author) , Fischer, Jan (Author) , Jahn, Arne (Author) , Hübner, Christoph (Author) , Majore, Silvia (Author) , Agolini, Emanuele (Author) , Novelli, Antonio (Author) , van der Smagt, Jasper (Author) , Ernst, Robert (Author) , van Binsbergen, Ellen (Author) , Mancini, Grazia M. S. (Author) , van Slegtenhorst, Marjon (Author) , Barakat, Tahsin Stefan (Author) , Wakeling, Emma L. (Author) , Kamath, Arveen (Author) , Downie, Lilian (Author) , Pais, Lynn (Author) , White, Susan M. (Author) , de Vries, Bert B. A. (Author) , Kutsche, Kerstin (Author) ,


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  4. 4
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    Correction: De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias by Harms, Frederike Leonie (Author) , Dingemans, Alexander J. M. (Author) , Hempel, Maja (Author) , Pfundt, Rolph (Author) , Bierhals, Tatjana (Author) , Casar, Christian (Author) , Müller, Christian (Author) , Niermeijer, Jikke-Mien F. (Author) , Fischer, Jan (Author) , Jahn, Arne (Author) , Hübner, Christoph (Author) , Majore, Silvia (Author) , Agolini, Emanuele (Author) , Novelli, Antonio (Author) , van der Smagt, Jasper (Author) , Ernst, Robert (Author) , van Binsbergen, Ellen (Author) , Mancini, Grazia M. S. (Author) , van Slegtenhorst, Marjon (Author) , Barakat, Tahsin Stefan (Author) , Wakeling, Emma L. (Author) , Kamath, Arveen (Author) , Downie, Lilian (Author) , Pais, Lynn (Author) , White, Susan M. (Author) , de Vries, Bert B. A. (Author) , Kutsche, Kerstin (Author) ,


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  5. 5
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    Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features by Li, Dong (Author) , Wang, Qin (Author) , Gong, Naihua N. (Author) , Kurolap, Alina (Author) , Feldman, Hagit Baris (Author) , Boy, Nikolas (Author) , Brugger, Melanie (Author) , Grand, Katheryn (Author) , McWalter, Kirsty (Author) , Sacoto, Maria J. Guillen (Author) , Wakeling, Emma (Author) , Hurst, Jane (Author) , March, Michael E. (Author) , Bhoj, Elizabeth J. (Author) , Nowaczyk, Małgorzata J. M. (Author) , Gonzaga-Jauregui, Claudia (Author) , Mathew, Mariam (Author) , Dava-Wala, Ashita (Author) , Siemon, Amy (Author) , Bartholomew, Dennis (Author) , Huang, Yue (Author) , Lee, Hane (Author) , Martinez-Agosto, Julian A. (Author) , Schwaibold, Eva M. C. (Author) , Brunet, Theresa (Author) , Choukair, Daniela (Author) , Pais, Lynn S. (Author) , White, Susan M. (Author) , Christodoulou, John (Author) , Brown, Dana (Author) , Lindstrom, Kristin (Author) , Grebe, Theresa (Author) , Tiosano, Dov (Author) , Kayser, Matthew S. (Author) , Tan, Tiong Yang (Author) , Deardorff, Matthew A. (Author) , Song, Yuanquan (Author) , Hakonarson, Hakon (Author) ,


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  6. 6
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    Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings by Wilson, Matthew P. (Author) , Garanto, Alejandro (Author) , Pinto e Vairo, Filippo (Author) , Ng, Bobby G. (Author) , Ranatunga, Wasantha K. (Author) , Ventouratou, Marina (Author) , Baerenfaenger, Melissa (Author) , Huijben, Karin (Author) , Thiel, Christian (Author) , Ashikov, Angel (Author) , Keldermans, Liesbeth (Author) , Souche, Erika (Author) , Vuillaumier-Barrot, Sandrine (Author) , Dupré, Thierry (Author) , Michelakakis, Helen (Author) , Fiumara, Agata (Author) , Pitt, James (Author) , White, Susan M. (Author) , Lim, Sze Chern (Author) , Gallacher, Lyndon (Author) , Peters, Heidi (Author) , Rymen, Daisy (Author) , Witters, Peter (Author) , Ribes, Antonia (Author) , Morales-Romero, Blai (Author) , Rodríguez-Palmero, Agustí (Author) , Ballhausen, Diana (Author) , de Lonlay, Pascale (Author) , Barone, Rita (Author) , Janssen, Mirian C. H. (Author) , Jaeken, Jaak (Author) , Freeze, Hudson H. (Author) , Matthijs, Gert (Author) , Morava, Eva (Author) , Lefeber, Dirk J. (Author) ,


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