Ngā hua rapu - David K. Manchester

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  1. 1
    Importance of the Clinical Recognition of Loeys-Dietz Syndrome in the Neonatal Period

    Importance of the Clinical Recognition of Loeys-Dietz Syndrome in the Neonatal Period mā Anji T. Yetman, Rebecca S. Beroukhim, D. Dunbar Ivy, David K. Manchester

    I whakaputaina 2007
    Whiwhi kuputuhi katoa
    Artigo
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  2. 2
    An outbreak of rotavirus-associated neonatal necrotizing enterocolitis

    An outbreak of rotavirus-associated neonatal necrotizing enterocolitis mā Harley A. Rotbart, Myron J. Levin, Robert H. Yolken, David K. Manchester, James Jantzen

    I whakaputaina 1983
    Whiwhi kuputuhi katoa
    Artigo
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  3. 3
    Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

    Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy mā Thomas Cullup, Ay Lin Kho, Carlo Dionisi‐Vici, Birgit Brandmeier, Frances J.D. Smith, Zoë Urry, Michael A. Simpson, Shu Yau, Enrico Bertini, Verity M. McClelland, Mohammed Al‐Owain, Stefan Koelker, Christian Koerner, Georg F. Hoffmann, Frits A. Wijburg, Amber E. ten Hoedt, R. Curtis Rogers, David K. Manchester, Rie Miyata, Masaharu Hayashi, Edith Said, Doriette Soler, Peter M. Kroisel, Christian Windpassinger, Francis Filloux, Salwa Al-Kaabi, Jozef Hertecant, Miguel Del Campo, Stefan Buk, István Bódi, Hans-Hilmar Goebel, Caroline A. Sewry, Stephen Abbs, Shehla Mohammed, Dragana Josifova, Mathias Gautel, Heinz Jungbluth

    I whakaputaina 2012
    Whiwhi kuputuhi katoa
    Artigo
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  4. 4
    Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

    Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features mā Jing Zhang, Tomasz Gambin, Bo Yuan, Przemysław Szafrański, Jill A. Rosenfeld, Mohammed Al Balwi, Abdulrahman Alswaid, Lihadh Al‐Gazali, Aisha M. Al Shamsi, Makanko Komara, Bassam R. Ali, Elizabeth Roeder, Laura McAuley, Daniel Roy, David K. Manchester, Pilar Magoulas, Lauren E. King, Vickie Hannig, Dominique Bonneau, Anne‐Sophie Denommé‐Pichon, Majida Charif, Thomas Besnard, Stéphane Bézieau, Benjamin Cogné, Joris Andrieux, Wenmiao Zhu, Weimin He, Francesco Vetrini, Patricia A. Ward, Sau Wai Cheung, Weimin Bi, Christine M. Eng, James R. Lupski, Yaping Yang, Ankita Patel, Seema R. Lalani, Fan Xia, Paweł Stankiewicz

    I whakaputaina 2017
    Whiwhi kuputuhi katoa
    Artigo
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  5. 5
    Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations

    Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations mā Jennifer J. Johnston, Isabelle Olivos‐Glander, Christina Killoran, Emma Elson, Joyce Turner, Kathryn F. Peters, Margaret H. Abbott, David J. Aughton, Arthur S. Aylsworth, Michael J. Bamshad, Carol Booth, Cynthia J. Curry, Albert David, Mary Beth Dinulos, David B. Flannery, Michelle Fox, John M. Graham, Dorothy K. Grange, Alan E. Guttmacher, Mark C. Hannibal, Wolfram Henn, RaoulC.M. Hennekam, Lewis B. Holmes, H. Eugene Hoyme, Kathleen A. Leppig, Angela E. Lin, Patrick MacLeod, David K. Manchester, Carlo Marcelis, Laura Mazzanti, Emma McCann, Marie McDonald, Nancy J. Mendelsohn, John B. Moeschler, Billur Moghaddam, Giovanni Neri, Ruth Newbury‐Ecob, Roberta A Pagon, John A. Phillips, Laurie S. Sadler, Joan M. Stoler, David Tilstra, Catherine M. Walsh Vockley, Elaine H. Zackai, Touran M. Zadeh, Louise Brueton, Graeme Black, Leslie G. Biesecker

    I whakaputaina 2005
    Whiwhi kuputuhi katoa
    Artigo
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  6. 6
    <i>EPG5</i>-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

    <i>EPG5</i>-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy mā Susan Byrne, Max Janse, Jean-Marie U-King-Im, Ata Siddiqui, Hart G.W. Lidov, István Bódi, Luke J. Smith, R. Mein, Thomas Cullup, Carlo Dionisi‐Vici, Lihadh Al‐Gazali, Mohammed Al‐Owain, Zandrè Bruwer, Khalid Al Thihli, Rana El-Garhy, Kevin M. Flanigan, Kandamurugu Manickam, Erik Zmuda, Wesley Banks, Ruth Gershoni‐Baruch, Hanna Mandel, Efrat Dagan, Annick Raas‐Rothschild, Hila Barash, Francis Filloux, Donnell J. Creel, Michael A. Harris, Ada Hamosh, Stefan Kölker, Darius Ebrahimi‐Fakhari, Georg F. Hoffmann, David K. Manchester, Philip J. Boyer, Adnan Y. Manzur, Charles Marques Lourenço, Daniela T. Pilz, Arveen Kamath, Prab Prabhakar, Vamshi K. Rao, R. Curtis Rogers, Monique M. Ryan, Natasha J. Brown, Catriona McLean, Edith Said, Ulrike Schara, Anja Stein, Caroline A. Sewry, Laura Travan, Frits A. Wijburg, Martin Zenker, Shehla Mohammed, Manolis Fanto, Mathias Gautel, Heinz Jungbluth

    I whakaputaina 2016
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  7. 7
    Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

    Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing mā Rea M. Lardelli, Ashleigh E. Schaffer, Veerle Rc Eggens, Maha S. Zaki, Stephanie Grainger, Shashank Sathe, Eric L. Van Nostrand, Zinayida Schlachetzki, Başak Rosti, Naiara Akizu, Eric Scott, Jennifer L. Silhavy, Laura D. Heckman, Rasim Özgür Rosti, Esra Dikoglu, Anne Gregor, Alicia Guemez‐Gamboa, Damir Musaev, Rohit Mande, Ari Widjaja, Timothy Shaw, Sebastian Markmiller, Isaac Marin‐Valencia, Justin H. Davies, Linda De Meırleır, Hülya Kayserili, Umut Altunoğlu, Mary Louise Freckmann, Linda Warwick, David Chitayat, Susan Blasér, Ahmet Okay Çağlayan, Kaya Bilgüvar, Hüseyin Per, Christina Fagerberg, Henrik Thybo Christesen, Maria Kibæk, Kimberly A. Aldinger, David K. Manchester, Naomichi Matsumoto, Kazuhiro Muramatsu, Hirotomo Saitsu, Masaaki Shiina, Kazuhiro Ogata, Nicola Foulds, William B. Dobyns, C. Neil, David Traver, Luigina Spaccini, Stefania Maria Bova, Stacey B. Gabriel, Murat Günel, Enza Maria Valente, Marie‐Cécile Nassogne, Eric J. Bennett, G Yeo, Frank Baas, Jens Lykke‐Andersen, Joseph G. Gleeson

    I whakaputaina 2017
    Whiwhi kuputuhi katoa
    Artigo
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  8. 8
    Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria

    Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria mā Shyam K. Akula, Allen Y. Chen, Jennifer E. Neil, Diane D. Shao, Alisa Mo, Norma K. Hylton, Stephanie DiTroia, Vijay Ganesh, Richard S. Smith, Katherine O’kane, Rebecca C. Yeh, Jack H. Marciano, Samantha L. Kirkham, Connor Kenny, Janet Song, Muna Al Saffar, Francisca Millan, David J. Harris, Andrea V. Murphy, Kara C. Klemp, Stephen R. Braddock, Harrison Brand, Isaac Wong, Michael E. Talkowski, Anne O’Donnell‐Luria, Abbe Lai, Robert Hill, Ganeshwaran H. Mochida, Ryan N. Doan, A. James Barkovich, Edward Yang, Dina Amrom, Eva Andermann, Annapurna Poduri, Christopher A. Walsh, Bassam Abu‐Libdeh, Lihadh Al‐Gazali, Muna Al Saffar, Edith Alva Moncayo, Dina Amrom, Eva Anderman, Anna‐Kaisa Anttonen, Saunder Barnes, Sara Barnett, Todd F. Barron, Brenda J. Barry, Lina Basel‐Vanagaite, Lailá Bastaki, Luis Bello‐Espinosa, Tawfeg Ben‐Omran, Matthew P. Bernard, Carsten Bönneman, Blaise F. D. Bourgeois, S.D.M. Brown, Roberto Caraballo, Gergory Cascino, M Clarke, Monika Cohen, Yanick J. Crow, Bernard Dan, Kira A. Dies, William B. Dobyns, François Dubeau, Christelle Moufawad El Achkar, Gregory M. Enns, Laurence Faivre, Laura Flores‐Sarnat, John Gaitanis, Kuchukhidze Giorgi, Andrew Green, A. Guberman, Renzo Guerrini, Micheil Innes, R.G. Jacobsen, Sebastian Jacquemont, Samir Khalil, Joerg Klepper, Dimitri Kranic, Kalpathy Krishnamoorthy, Anna‐Elina Lehesjoki, Dorit Lev, Richard J. Leventer, Emily C. Lisi, Valerie Loik Ramey, Sally Ann Lynch, Laila Mahmoud, David K. Manchester, David E. Mandelbaum, Daphna Marom, Deborah Marsden, Mayra Martinez Ojeda, Amira Masri, Līvija Medne, Denis Melanson, David T. Miller, Anna Minster, Edward Neilan, Dang Khoa Nguyen, Heather E. Olson, I Pascual-Castroviejo

    I whakaputaina 2023
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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