Bilaketaren emaitzak - Mary Willis

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  1. 1
    De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay

    De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay nork Valerie A. Arboleda, Hane Lee, Naghmeh Dorrani, Neda Zadeh, Mary Willis, Colleen Macmurdo, Melanie A. Manning, Andrea Kwan, Louanne Hudgins, Florian Barthélémy, M. Carrie Miceli, Fabiola Quintero‐Rivera, Sibel Kantarci, Samuel P. Strom, Joshua L. Deignan, Wayne W. Grody, Éric Vilain, Stanley F. Nelson

    Argitaratua 2015
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  2. 2
    Pathogenic mutations in<i>GLI2</i>cause a specific phenotype that is distinct from holoprosencephaly

    Pathogenic mutations in<i>GLI2</i>cause a specific phenotype that is distinct from holoprosencephaly nork Kelly Bear, Benjamin D. Solomon, Sonir Roberto Rauber Antonini, Ivo J.P. Arnhold, Marcela M. França, Erica H. Gerkes, Dorothy K. Grange, Donald W. Hadley, Jarmo Jääskeläinen, Sabrina Soares Paulo, Patrick Rump, Constantine A. Stratakis, Elizabeth M. Thompson, Mary Willis, Thomas Winder, Alexander A.L. Jorge, Erich Roessler, Maximilian Muenke

    Argitaratua 2014
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  3. 3
    Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability

    Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability nork Nicole J Van Bergen, Yiran Guo, Noraldin Al-Deri, Zhanna Lipatova, Daniela Stanga, Sarah F. Zhao, Rakhilya Murtazina, Valeriya Gyurkovska, Davut Pehli̇van, Tadahiro Mitani, Alper Gezdirici, Jayne Antony, Felicity Collins, Mary Willis, Zeynep H. Coban Akdemir, Pengfei Liu, Jaya Punetha, Jill V. Hunter, Shalini N. Jhangiani, Jawid M. Fatih, Jill A. Rosenfeld, Jennifer E. Posey, Richard A. Gibbs, Ender Karaca, Sean Massey, Thisara G Ranasinghe, Patrick Sleiman, Chris Troedson, James R. Lupski, Michael Sacher, Nava Segev, Hákon Hákonarson, John Christodoulou

    Argitaratua 2019
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  4. 4
    Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

    Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy nork Devesh C. Pant, Imen Dorboz, Agatha Schlüter, Stéphane Fourcade, Nathalie Launay, Javier Joya, Sergio Aguilera, María Eugenia Yoldi, Carlos Casasnovas, Mary Willis, Montserrat Ruíz, Dorothée Ville, Gaëtan Lesca, Karine Siquier-Pernet, Isabelle Desguerre, Huifang Yan, Jingmin Wang, Margit Burmeister, Lauren Brady, Mark A. Tarnopolsky, Carles Cornet, Davide Rubbini, Javier Terriente, Kiely N. James, Damir Musaev, Maha S. Zaki, Marc C. Patterson, Brendan C. Lanpher, Eric W. Klee, Filippo Pinto e Vairo, Elizabeth Wohler, Nara Sobreira, Julie S. Cohen, Reza Maroofian, Hamid Galehdari, Neda Mazaheri, Gholamreza Shariati, Laurence Colleaux, Diana Rodriguez, Joseph G. Gleeson, Cristina Pujades, Ali Fatemi, Odile Boespflug‐Tanguy, Aurora Pujol

    Argitaratua 2019
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  5. 5
    A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases

    A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases nork Stephen F. Kingsmore, Laurie D. Smith, Chris M. Kunard, Matthew Bainbridge, Serge Batalov, Wendy Benson, Eric Blincow, Sara Caylor, Christina Chambers, Guillermo del Angel, David Dimmock, Yan Ding, Katarzyna A. Ellsworth, Annette Feigenbaum, Erwin Frise, Robert C. Green, Lucia Guidugli, Kevin P. Hall, Christian Holm Hansen, Charlotte A. Hobbs, Scott D. Kahn, Mark J. Kiel, Lucita Van Der Kraan, Chad Krilow, Yong Hyun Kwon, Lakshminarasimha Madhavrao, Jennie Le, Sébastien Lefebvre, Rebecca Mardach, William R. Mowrey, Danny Oh, Mallory Owen, George S. Powley, Gunter Scharer, Seth Shelnutt, Mari Tokita, Shyamal Mehtalia, Albert Oriol, Stavros Papadopoulos, James C. Perry, Edwin F. Juarez, Erica Sanford Kobayashi, Steven J. Schwartz, Duke Tran, Martin G. Reese, Meredith S. Wright, Narayanan Veeraraghavan, Kristen Wigby, Mary Willis, Aaron R. Wolen, Thomas Defay

    Argitaratua 2022
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  6. 6
    Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

    Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome nork Federico Tessadori, Karen Duran, Karen Knapp, Matthias Fellner, Sarah Smithson, Ana Beleza‐Meireles, Mariet W. Elting, Quinten Waisfisz, Anne O’Donnell‐Luria, C. Nowak, Jessica Douglas, Anne Ronan, Theresa Brunet, Urania Kotzaeridou, Shayna Svihovec, Margarita Sáenz, Isabelle Thiffault, Florencia Del Viso, Patrick Devine, Shannon Rego, Jessica Tenney, Arie van Haeringen, Claudia Ruivenkamp, Saskia Koene, Stephen P. Robertson, Charulata Deshpande, Rolph Pfundt, Nienke E. Verbeek, Jiddeke M. van de Kamp, Janneke M.M. Weiss, Anna Ruiz, Elisabeth Gabau, Ehud Banne, Alexander Pepler, Armand Bottani, Sacha Laurent, Michel Guipponi, Emilia Bijlsma, Ange‐Line Bruel, Arthur Sorlin, Mary Willis, Zöe Powis, Thomas Smol, Catherine Vincent‐Delorme, Diana Baralle, Estelle Colin, Nicole Revençu, Eduardo Calpena, Andrew O.M. Wilkie, Maya Chopra, Valérie Cormier‐Daire, Boris Keren, Alexandra Afenjar, Marcello Niceta, Antonio Terracciano, Nicola Specchio, Marco Tartaglia, Marlène Rio, Giulia Barcia, Sophie Rondeau, Cindy Colson, Jeroen Bakkers, Peter D. Mace, Louise S. Bicknell, Gijs van Haaften

    Argitaratua 2022
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  7. 7
    An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases

    An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases nork Mallory Owen, Sébastien Lefebvre, Christian Holm Hansen, Chris M. Kunard, David Dimmock, Laurie D. Smith, Gunter Scharer, Rebecca Mardach, Mary Willis, Annette Feigenbaum, Anna‐Kaisa Niemi, Yan Ding, Luca Van Der Kraan, Katarzyna A. Ellsworth, Lucia Guidugli, Bryan R. Lajoie, Timothy K. McPhail, Shyamal Mehtalia, Kevin Chau, Yong Hyun Kwon, Zhanyang Zhu, Serge Batalov, Shimul Chowdhury, Seema Rego, James C. Perry, Mark Speziale, Mark Nespeca, Meredith S. Wright, Martin G. Reese, Francisco M. De La Vega, Joe Azure, Erwin Frise, Charlene Son Rigby, Sandy White, Charlotte A. Hobbs, Sheldon Gilmer, G. R. Knight, Albert Oriol, Jerica Lenberg, Shareef Nahas, Kate Perofsky, Kyu Kim, Jeanne Carroll, Nicole G. Coufal, Erica Sanford Kobayashi, Kristen Wigby, Jacqueline C. Weir, Vicki S. Thomson, Louise Fraser, Seka Lazare, Yoon H. Shin, Haiying Grunenwald, Richard Lee, David Jones, Duke Tran, Andrew M. Gross, Patrick Daigle, Anne Case, Marisa Lue, James A. Richardson, John Reynders, Thomas Defay, Kevin P. Hall, Narayanan Veeraraghavan, Stephen F. Kingsmore

    Argitaratua 2022
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  8. 8
    SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

    SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals nork Bobby G. Ng, Paulina Sosicka, Satish Agadi, Mohammed Almannai, Carlos A. Bacino, Rita Barone, Lorenzo D. Botto, Jennifer Burton, Colleen M. Carlston, Brian Hon‐Yin Chung, Julie S. Cohen, David Coman, Katrina M. Dipple, Naghmeh Dorrani, William B. Dobyns, Abdallah F. Elias, Leon G. Epstein, William A. Gahl, Domenico Garozzo, Trine Bjørg Hammer, Jaclyn Haven, Delphine Héron, Matthew Herzog, George Hoganson, Jesse M. Hunter, Mahim Jain, Jane Juusola, Shenela Lakhani, Hane Lee, Joy Lee, Cathryn M. Lewis, Nicola Longo, Charles Marques Lourenço, Christopher Chun Yu Mak, Dianalee McKnight, Bryce A. Mendelsohn, Cyril Mignot, Ghayda Mirzaa, Wendy G. Mitchell, Hiltrud Muhle, Stanley F. Nelson, Mariusz Olczak, Christina G.S. Palmer, Arthur Partikian, Marc C. Patterson, Tyler Mark Pierson, Shane C. Quinonez, Brigid M. Regan, M. Elizabeth Ross, María J. Guillen Sacoto, Fernando Scaglia, Ingrid E. Scheffer, Devorah Segal, Nilika S. Singhal, Pasquale Striano, Luisa Sturiale, Joseph D. Symonds, Sha Tang, Éric Vilain, Mary Willis, Lynne A. Wolfe, Hui Yang, Shoji Yano, Zöe Powis, Sharon F. Suchy, Jill A. Rosenfeld, Andrew C. Edmondson, Stephanie Grünewald, Hudson H. Freeze

    Argitaratua 2019
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  9. 9
    Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia

    Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia nork Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, Andrea Pedroni, Juliane Müller, Rolf Stucka, Christian Beetz, Stéphanie Efthymiou, Filippo M. Santorelli, Ahmed Alfares, Changlian Zhu, Anna Uhrová Mészárosová, Elham Alehabib, Somayeh Bakhtiari, Andreas Janecke, María Gabriela Otero, Jin Yun Helen Chen, James T Peterson, Tim M. Strom, Peter De Jonghe, Tine Deconinck, Willem De Ridder, Jonathan De Winter, Rossella Pasquariello, Ivana Ricca, Majid Alfadhel, Bart P.C. van de Warrenburg, R Portier, Carsten Bergmann, Saghar Ghasemi Firouzabadi, Sheng Chih Jin, Kaya Bilgüvar, Sherifa A. Hamed, Mohammed Abdelhameed, Nourelhoda A. Haridy, Shazia Maqbool, Fatima Rahman, Najwa Anwar, Jenny Carmichael, Alistair T. Pagnamenta, Nicholas Wood, Frédéric Tran Mau‐Them, Tobias B. Haack, Maja Di Rocco, Isabella Ceccherini, Michele Iacomino, Federico Zara, Vincenzo Salpietro, Marcello Scala, Marta Rusmini, Yiran Xu, Yinghong Wang, Yasuhiro Suzuki, Kishin Koh, Haitian Nan, Hiroyuki Ishiura, Shoji Tsuji, Laëtitia Lambert, Emmanuelle Schmitt, Elodie Lacaze, Hanna Küpper, David Dredge, Cara Skraban, Amy Goldstein, Mary Willis, Katheryn Grand, John M. Graham, Richard A. Lewis, Francisca Millan, Özgür Duman, Nihal Olgaç Dündar, Gökhan Uyanık, Lüdger Schöls, Peter Nürnberg, Gudrun Nürnberg, Andrea Català-Bordes, Pavel Seeman, Martin Kuchar, Hossein Darvish, Adriana Rebelo, Filipa Bouçanova, Jean‐Jacques Médard, Roman Chrast, Michaela Auer‐Grumbach, Fowzan S. Alkuraya, Hanan E. Shamseldin, Saeed Al Tala, Jamileh Rezazadeh Varaghchi, Maryam Najafi, Selina Deschner, Dieter Gläser, Wolfgang Hüttel, Michael C. Kruer, Erik-Jan Kamsteeg, Yoshihisa Takiyama, Stephan Züchner, Jonathan Baets, Matthis Synofzik, Rebecca Schüle, Rita Horváth

    Argitaratua 2021
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