Bilaketaren emaitzak - Brendan C. Lanpher

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  1. 1
    A novel cDNA restores reduced folate carrier activity and methotrexate sensitivity to transport deficient cells.

    A novel cDNA restores reduced folate carrier activity and methotrexate sensitivity to transport deficient cells. nork Katharine H. Dixon, Brendan C. Lanpher, Jason Chiu, Kane L. Kelley, Kenneth H. Cowan

    Argitaratua 1994
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  2. 2
    Diagnosis of Attenuated Mucopolysaccharidosis VI: Clinical, Biochemical, and Genetic Pitfalls

    Diagnosis of Attenuated Mucopolysaccharidosis VI: Clinical, Biochemical, and Genetic Pitfalls nork Filippo Pinto e Vairo, Erin Conboy, Carolina Fischinger Moura de Souza, Amie Jones, Sarah Barnett, Eric W. Klee, Brendan C. Lanpher

    Argitaratua 2018
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  3. 3
    Clinical utility of genomic sequencing: a measurement toolkit

    Clinical utility of genomic sequencing: a measurement toolkit nork Robin Z. Hayeems, David Dimmock, David Bick, John W. Belmont, Robert C. Green, Brendan C. Lanpher, Vaidehi Jobanputra, Roberto Mendoza‐Londono, Shashi Kulkarni, Megan E. Grove, Stacie L. Taylor, Euan A. Ashley

    Argitaratua 2020
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  4. 4
    Phenylbutyrate therapy for maple syrup urine disease

    Phenylbutyrate therapy for maple syrup urine disease nork Nicola Brunetti‐Pierri, Brendan C. Lanpher, Ayelet Erez, Elitsa Ananieva, Mohammad Mainul Islam, Juan C. Marini, Qin Sun, Chunli Yu, Madhuri Hegde, Jun Li, Richard Wynn, David Chuang, Susan M. Hutson, Brendan Lee

    Argitaratua 2010
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  5. 5
    Clinical and Biochemical Phenotypes in a Family With <i>ENPP1</i> Mutations

    Clinical and Biochemical Phenotypes in a Family With <i>ENPP1</i> Mutations nork Anupam Kotwal, Alejandro Ferrer, Rajiv Kumar, Ravinder Singh, Vishakantha Murthy, Laura Schultz‐Rogers, Michael T. Zimmermann, Brendan C. Lanpher, Kristin M. Zimmerman Savill, Paul R. Stabach, Eric W. Klee, Demetrios T. Braddock, Robert A. Wermers

    Argitaratua 2019
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  6. 6
    A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes

    A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes nork Marwan Shinawi, Christian P. Schaaf, Samarth Bhatt, Zhilian Xia, Ankita Patel, Sau Wai Cheung, Brendan C. Lanpher, Sandra Nagl, Heinrich Stephan Herding, Claudia Nevinny-Stickel, LaDonna Immken, Gayle Patel, Jennifer R. German, Arthur L. Beaudet, Paweł Stankiewicz

    Argitaratua 2009
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  7. 7
    Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping

    Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping nork Ayman W. El‐Hattab, Teresa A. Smolarek, Martha E. Walker, Elizabeth K. Schorry, LaDonna Immken, Gayle Patel, Mary‐Alice Abbott, Brendan C. Lanpher, Zhishuo Ou, Sung‐Hae Kang, Ankita Patel, Fernando Scaglia, James R. Lupski, Sau Wai Cheung, Paweł Stankiewicz

    Argitaratua 2009
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  8. 8
    Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and <i>PTEN</i> mutations

    Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and <i>PTEN</i> mutations nork Adeline Vanderver, Davide Tonduti, Ilana Kahn, Johanna Schmidt, Līvija Medne, Jodie M. Vento, Kimberly A. Chapman, Brendan C. Lanpher, Phillip L. Pearl, Andrea Gropman, Charles Marques Lourenço, J. Bamforth, Cynthia Sharpe, Mercédes Pineda, Jens Schallner, Olaf A. Bodamer, Simona Orcesi, Saskia A.J. Lesnik Oberstein, Erik A. Sistermans, Helger G. Yntema, C. Bönnemann, Amy Waldman, Marjo S. van der Knaap

    Argitaratua 2013
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  9. 9
    Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders

    Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders nork Shay Ben‐Shachar, Brendan C. Lanpher, Jennifer R. German, Mohammad M. Qasaymeh, Lorraine Potocki, Sandesh C. Sreenath Nagamani, Luis M. Franco, Amy D. Malphrus, G W Bottenfield, J. Edward Spence, Stephen Amato, Justine Rousseau, Billur Moghaddam, Cindy Skinner, Steven A. Skinner, Saunder Bernes, Nicole L. Armstrong, Marwan Shinawi, Paweł Stankiewicz, Ankita Patel, SW Cheung, James R. Lupski, Arthur L. Beaudet, Trilochan Sahoo

    Argitaratua 2009
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  10. 10
    Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium

    Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium nork Jennifer Seminara, Mendel Tuchman, Lauren Krivitzky, Jeffrey P. Krischer, Hye Seung Lee, Cynthia LeMons, Matthias R. Baumgartner, Stephen Cederbaum, George A. Díaz, Annette Feigenbaum, Renata C. Gallagher, Cary O. Harding, Douglas S. Kerr, Brendan C. Lanpher, Brendan Lee, Uta Lichter‐Konecki, Shawn E. McCandless, J. Lawrence Merritt, Mary Lou Oster‐Granite, Margretta R. Seashore, Tamar Stricker, Marshall Summar, Susan E. Waisbren, Marc Yudkoff, Mark L. Batshaw

    Argitaratua 2010
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  11. 11
    RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities

    RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities nork Margot A. Cousin, Erin Conboy, Jian‐She Wang, Dominic Lenz, Tanya L. Schwab, Monique Williams, Roshini S. Abraham, Sarah Barnett, Mounif El‐Youssef, Rondell P. Graham, Luz Helena Gutierrez Sanchez, Linda Hasadsri, Georg F. Hoffmann, Nathan C. Hull, Robert Kopajtich, Réka Kovács-Nagy, Jiaqi Li, Daniela Marx-Berger, Valérie A. McLin, Mark A. McNiven, Taofic Mounajjed, Holger Prokisch, Daisy Rymen, Ryan J. Schulze, Christian Staufner, Ye Yang, Karl J. Clark, Brendan C. Lanpher, Eric W. Klee

    Argitaratua 2019
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  12. 12
    Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer

    Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer nork Kezhi Yan, Justine Rousseau, Keren Machol, Laura Cross, Katherine Agre, Cynthia Forster Gibson, Anne Goverde, Kendra Engleman, Hannah Verdin, Elfride De Baere, Lorraine Potocki, Dihong Zhou, Maxime Cadieux‐Dion, Gary A. Bellus, Monisa Wagner, Rebecca J. Hale, Natacha Esber, Alan Riley, Benjamin D. Solomon, Megan T. Cho, Kirsty McWalter, Roy Eyal, Meagan K. Hainlen, Bryce A. Mendelsohn, Hillary M. Porter, Brendan C. Lanpher, Andrea M. Lewis, Juliann M. Savatt, Isabelle Thiffault, Bert Callewaert, Philippe M. Campeau, Xiang‐Jiao Yang

    Argitaratua 2020
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  13. 13
    Disruption of the ATXN1–CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans

    Disruption of the ATXN1–CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans nork Hsiang‐Chih Lu, Qiumin Tan, Maxime W.C. Rousseaux, Wei Wang, Ji-Yoen Kim, Ronald Richman, Ying-Wooi Wan, Szu-Ying Yeh, Jay Patel, Xiuyun Liu, Tao Lin, Yoontae Lee, John Denis Fryer, Jing Han, Maria H. Chahrour, Richard H. Finnell, Yunping Lei, Maria E Zurita-Jimenez, Priyanka Ahimaz, Kwame Anyane‐Yeboa, Lionel Van Maldergem, Daphné Lehalle, Nolwenn Jean‐Marçais, Anne‐Laure Mosca‐Boidron, Julien Thévenon, Margot A. Cousin, Della E Bro, Brendan C. Lanpher, Eric W. Klee, Nora Alexander, Matthew N. Bainbridge, Harry T. Orr, Roy V. Sillitoe, M. Cecilia Ljungberg, Zhandong Liu, Christian P. Schaaf, Huda Y. Zoghbi

    Argitaratua 2017
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  14. 14
    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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  15. 15
    Clinical spectrum and genotype–phenotype associations of KCNA2-related encephalopathies

    Clinical spectrum and genotype–phenotype associations of KCNA2-related encephalopathies nork Silvia Masnada, Ulrike B. S. Hedrich, Elena Gardella, Julian Schubert, Charu Kaiwar, Eric W. Klee, Brendan C. Lanpher, Ralitza H. Gavrilova, Matthis Synofzik, Thomas Bast, Kathleen M. Gorman, Mary D. King, Nicholas M. Allen, Judith Conroy, Bruria Ben Zeev, Michal Tzadok, Christian Korff, Fanny Dubois, Keri Ramsey, Vinodh Narayanan, José M. Serratosa, Beatriz G. Giráldez, Ingo Helbig, Eric D. Marsh, Margaret O’Brien, Christina A Bergqvist, Adrian Binelli, Brenda E. Porter, Eduardo José Bernardo Zaeyen, Dafne Dain Gandelman Horovitz, Markus Wolff, Dragan Marjanović, Hande Çağlayan, Mutluay Arslan, Sérgio D.J. Pena, Sanjay M. Sisodiya, Simona Balestrini, Steffen Syrbe, Pierangelo Veggiotti, Johannes R. Lemke, Rikke S. Møller, Holger Lerche, Guido Rubboli

    Argitaratua 2017
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  16. 16
    Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

    Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome nork Margot A. Cousin, Blake A. Creighton, Keith A. Breau, Rebecca C. Spillmann, Erin Torti, Sruthi Dontu, Swarnendu Tripathi, Deepa Ajit, Reginald J. Edwards, Simone Afriyie, Julia Bay, Kathryn M. Harper, Alvaro A. Beltran, Lorena J. Munoz, Liset Falcon Rodriguez, Michael C. Stankewich, Richard Person, Yue Si, Elizabeth A. Normand, Amy Blevins, Alison S. May, Louise Bier, Vimla S. Aggarwal, Grazia M.S. Mancini, Marjon A. van Slegtenhorst, Kirsten Cremer, Jessica Becker, Hartmut Engels, Stefan Aretz, Jennifer MacKenzie, Eva H. Brilstra, Koen L.I. van Gassen, Richard H. van Jaarsveld, Renske Oegema, Gretchen Parsons, Paul R. Mark, Ingo Helbig, Sarah McKeown, Robert F. Stratton, Benjamin Cogné, Bertrand Isidor, Pilar Cacheiro, Damian Smedley, Helen V. Firth, Tatjana Bierhals, Katja Kloth, Deike Weiss, Cecilia Fairley, Joseph T.C. Shieh, Amy Kritzer, Parul Jayakar, Evangeline C. Kurtz‐Nelson, Raphael Bernier, Tianyun Wang, Evan E. Eichler, Ingrid M.B.H. van de Laar, Allyn McConkie‐Rosell, Marie McDonald, Jennifer L. Kemppainen, Brendan C. Lanpher, Laura Schultz‐Rogers, Lauren Gunderson, Pavel N. Pichurin, Grace Yoon, Michael Zech, Robert Jech, Juliane Winkelmann, Adriana S. Beltrán, Michael T. Zimmermann, Brenda Temple, Sheryl S. Moy, Eric W. Klee, Queenie K-G Tan, Damaris N. Lorenzo

    Argitaratua 2021
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  17. 17
    De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

    De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias nork Katherine L. Helbig, Robert J. Lauerer, Jacqueline C Bahr, Ivana A. Souza, Candace T. Myers, Betül Seher Uysal, Niklas Schwarz, María A. Gandini, Sun Huang, Boris Keren, Cyril Mignot, Alexandra Afenjar, Thierry Billette de Villemeur, Delphine Héron, Caroline Nava, Stéphanie Valence, Julien Buratti, Christina Fagerberg, Kristina P. Soerensen, Maria Kibæk, Erik‐Jan Kamsteeg, David A. Koolen, Boudewijn Gunning, Helenius J. Schelhaas, Michael C. Kruer, Jordana Fox, Somayeh Bakhtiari, Randa Jarrar, Sergio Padilla-López, Kristin Lindstrom, Sheng Chih Jin, Xue Zeng, Kaya Bilgüvar, Antigone Papavasileiou, Qinghe Xing, Changlian Zhu, Katja Boysen, Filippo Pinto e Vairo, Brendan C. Lanpher, Eric W. Klee, Jan‐Mendelt Tillema, Eric T. Payne, Margot A. Cousin, Teresa Kruisselbrink, Myra J. Wick, Joshua Baker, Eric Haan, Nicholas Smith, Azita Sadeghpour, Erica E. Davis, Nicholas Katsanis, Mark Corbett, Alastair H. MacLennan, Jozef Gécz, Saskia Biskup, Eva Goldmann, Lance H. Rodan, Elizabeth Kichula, Eric Segal, Kelly E. Jackson, Alexander Asamoah, David Dimmock, Julie McCarrier, Lorenzo D. Botto, Francis Filloux, Tatiana Tvrdik, Gregory D. Cascino, Sherry Klingerman, Catherine M. Neumann, Raymond Wang, Jessie C. Jacobsen, Melinda Nolan, Russell G. Snell, Klaus Lehnert, Lynette G. Sadleir, Britt‐Marie Anderlid, Malin Kvarnung, Renzo Guerrini, Michael J. Friez, Michael J. Lyons, Jennifer Leonhard, Gabriel Kringlen, Kari Casas, Christelle Moufawad El Achkar, Lacey Smith, Alexander Rotenberg, Annapurna Poduri, Alba Sanchis‐Juan, Keren Carss, Julia Rankin, Adam Zeman, F. Lucy Raymond, Moira Blyth, Bronwyn Kerr, Karla Ruiz, Jill Urquhart, Imelda Hughes, Siddharth Banka, Ulrike B. S. Hedrich, Ingrid E. Scheffer

    Argitaratua 2018
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  18. 18
    Bi-allelic variants in INTS11 are associated with a complex neurological disorder

    Bi-allelic variants in INTS11 are associated with a complex neurological disorder nork Burak Tepe, Erica L. Macke, Marcello Niceta, Monika Weisz Hubshman, Oguz Kanca, Laura Schultz‐Rogers, Yuri A. Zárate, G. Bradley Schaefer, Jorge Luis Granadillo De Luque, Daniel Wegner, Benjamin Cogné, Brigitte Gilbert‐Dussardier, Xavier Le Guillou, Eric J. Wagner, Lynn Pais, Jennifer E. Neil, Ganeshwaran H. Mochida, Christopher A. Walsh, Nurit Magal, Valerie Drasinover, Mordechai Shohat, Tanya L. Schwab, C Schmitz, Karl J. Clark, Anthony L. Fine, Brendan C. Lanpher, Ralitza H. Gavrilova, Pierre Blanc, Lydie Bürglen, Alexandra Afenjar, Dora Steel, Manju A. Kurian, Prab Prabhakar, Sophie Gößwein, Nataliya Di Donato, Enrico Bertini, Michael F. Wangler, Shinya Yamamoto, Marco Tartaglia, Eric W. Klee, Hugo J. Bellen, Maria T. Acosta, Margaret P Adam, David R. Adams, Justin Alvey, Laura M. Amendola, Ashley Andrews, Euan A. Ashley, Mahshid S. Azamian, Carlos A. Bacino, Güney Bademci, Ashok Balasubramanyam, Dustin Baldridge, Jim Bale, Michael J. Bamshad, Deborah Barbouth, Pınar Bayrak‐Toydemir, Anita Beck, Alan H. Beggs, Edward M. Behrens, Gill Bejerano, Hugo J. Bellen, Jimmy Bennet, Beverly Berg-Rood, Jonathan A. Bernstein, Gerard T. Berry, Anna Bican, Stephanie Bivona, Elizabeth Blue, John F. Bohnsack, Devon Bonner, Lorenzo D. Botto, Brenna Boyd, Lauren C. Briere, Elly Brokamp, Gabrielle Brown, Elizabeth A. Burke, Lindsay C. Burrage, Manish J. Butte, Peter H. Byers, William E. Byrd, John C. Carey, Olveen Carrasquillo, Thomas Cassini, Ta Chen Chang, Sirisak Chanprasert, Hsiao‐Tuan Chao, Gary Clark, Terra R. Coakley, Laurel A. Cobban, Joy D. Cogan, Matthew Coggins, F. Sessions Cole, Heather A. Colley, Cynthia M. Cooper, Heidi Cope, William J. Craigen, Andrew B. Crouse, Michael L. Cunningham, Precilla D’Souza

    Argitaratua 2023
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  19. 19
    Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles

    Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles nork Sadegheh Haghshenas, Hidde J. Bout, Josephine Schijns, Michael A. Levy, Jennifer Kerkhof, Pratibha Bhai, Haley McConkey, Zandra A. Jenkins, Ella M. Williams, Benjamin J. Halliday, Sylvia Huisman, Peter Lauffer, Vivian de Waard, Laura Witteveen, Siddharth Banka, Angela F. Brady, Elena Galazzi, Julien Van‐Gils, Anna Hurst, Frank J. Kaiser, Didier Lacombe, Antonio Federico Martínez‐Monseny, Patricia Fergelot, Fabíola Paoli Monteiro, Ilaria Parenti, Luca Persani, Fernando Santos‐Simarro, Brittany Simpson, Andrea Angius, Janice Baker, Emma Bedoukian, Vikas Bhambhani, Olaf A. Bodamer, Alan O’Brien, Jill Clayton‐Smith, Laura Crisponi, Anna M. Cueto‐González, the DDD study, Koenraad Devriendt, Elena Garrido, Nadja Ehmke, Albertien M. van Eerde, Annette P.M. van den Elzen, Laurence Faivre, Laura J. Fisher, Josue Flores-Daboub, Alison Foster, Jennifer Friedman, Elisabeth Gabau, Elena Galazzi, Sixto García‐Miñaúr, Livia Garavelli, Thatjana Gardeitchik, Erica H. Gerkes, Julien Van‐Gils, Jacques C. Giltay, Aixa Gonzalez Garcia, Ketil Heimdal, Denise Horn, Gunnar Houge, Sophia B. Hufnagel, Denisa Ilenčíková, Sophie Julia, Sarina G. Kant, Esther Kinning, Eric W. Klee, Chelsea Kois, M. Kovacevic, A.M.A. Lachmeijer, Brendan C. Lanpher, Marine Lebrun, Eyby Leon, Angie Lichty, Ruth Lin, Isabel Llano‐Rivas, Sally Ann Lynch, Saskia M. Maas, Silvia Maitz, Shane McKee, Daniela Melis, Elisabetta Merati, Giuseppe Merla, Ruth Newbury‐Ecob, Mathilde Nizon, Soo-Mi Park, Jennifer Patterson, Florence Petit, Hilde Peeters, Luca Persani, Ivana Persico, Valentina Pes, Marzia Pollazzon, Thomas P. Potjer, Lorraine Potocki, Carrie Pottinger, Chitra Prasad, Eloise J. Prijoles, Nicola Ragge, Jan Peter Rake, Conny M.A. van Ravenswaaij‐Arts

    Argitaratua 2024
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