Zoekresultaten - Julie R. Jones

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  1. 1
    A neurodevelopmental disorder caused by mutations in the VPS51 subunit of the GARP and EARP complexes

    A neurodevelopmental disorder caused by mutations in the VPS51 subunit of the GARP and EARP complexes door David C. Gershlick, Morié Ishida, Julie R. Jones, Allison Bellomo, Juan S. Bonifacino, David B. Everman

    Gepubliceerd in 2018
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  2. 2
    Improving the Limit of Detection for Sanger Sequencing: A Comparison of Methodologies for <i>KRAS</i> Variant Detection

    Improving the Limit of Detection for Sanger Sequencing: A Comparison of Methodologies for <i>KRAS</i> Variant Detection door C. Davidson, Emily Zeringer, Kristen J. Champion, Marie‐Pierre L. Gauthier, Fawn Wang, Jerry Boonyaratanakornkit, Julie R. Jones, Edgar Schreiber

    Gepubliceerd in 2012
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  3. 3
    Epithelial P2X purinergic receptor channel expression and function

    Epithelial P2X purinergic receptor channel expression and function door Amanda L. Taylor, Lisa M. Schwiebert, Jeffrey J. Smith, Chris King, Julie R. Jones, Eric J. Sorscher, Erik M. Schwiebert

    Gepubliceerd in 1999
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  4. 4
    Deletion of PPARγ in adipose tissues of mice protects against high fat diet-induced obesity and insulin resistance

    Deletion of PPARγ in adipose tissues of mice protects against high fat diet-induced obesity and insulin resistance door Julie R. Jones, Cordelia J. Barrick, Kyoung‐Ah Kim, J Lindner, B. Blondeau, Yuka Fujimoto, Masakazu Shiota, Robert A. Kesterson, Barbara B. Kahn, Mark A. Magnuson

    Gepubliceerd in 2005
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  5. 5
    Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort

    Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort door Kyungsoo Ha, Priya Anand, Jennifer A. Lee, Julie R. Jones, Chong Ae Kim, Débora Romeo Bertola, Jonathan D. J. Labonne, Lawrence C. Layman, Wolfgang Wenzel, Hyung‐Goo Kim

    Gepubliceerd in 2016
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  6. 6
    A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome

    A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome door Gevork N. Mnatzakanian, Hannes Lohi, Iulia Munteanu, Simon E. Alfred, Takahiro Yamada, Patrick J. M. MacLeod, Julie R. Jones, Stephen W. Scherer, N. Carolyn Schanen, Michael J. Friez, John B. Vincent, Berge A. Minassian

    Gepubliceerd in 2004
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  7. 7
    The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene

    The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene door C E Schwartz, Patrick Tarpey, Herbert A. Lubs, Alain Verloès, Melanie May, Hiba Risheg, Michael J. Friez, PA Futreal, Sarah Edkins, J. Teague, Sylvain Briault, Cindy Skinner, Astrid Bauer‐Carlin, R J Simensen, Sumy Joseph, Julie R. Jones, Jozef Gécz, Michael R. Stratton, F. Lucy Raymond, R.E. Stevenson

    Gepubliceerd in 2007
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  8. 8
    Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A

    Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A door Lucas Bronicki, Claire Redin, Séverine Drunat, Amélie Piton, Michael J. Lyons, Sandrine Passemard, Clarisse Baumann, Laurence Faivre, Julien Thévenon, Jean‐Baptiste Rivière, Bertrand Isidor, Grace Gan, Christine Francannet, Marjolaine Willems, Murat Günel, Julie R. Jones, Joseph G. Gleeson, Jean‐Louis Mandel, Roger E. Stevenson, Michael J. Friez, Arthur S. Aylsworth

    Gepubliceerd in 2015
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  9. 9
    RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes

    RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes door Margot R.F. Reijnders, Nurhuda Mohamad Ansor, Maria Kousi, Wyatt W. Yue, Perciliz L. Tan, Katie Clarkson, Jill Clayton‐Smith, Ken Corning, Julie R. Jones, Wayne Lam, Grazia M.S. Mancini, Carlo Marcelis, Shehla Mohammed, Rolph Pfundt, Maian Roifman, Ronald D. Cohn, David Chitayat, Tom H. Millard, Nicholas Katsanis, Han G. Brunner, Siddharth Banka

    Gepubliceerd in 2017
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  10. 10
    Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy

    Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy door Thi Tuyet Mai Nguyen, Yoshiko Murakami, Kristen Wigby, Nissan Vida Baratang, Justine Rousseau, Anik St‐Denis, Jill A. Rosenfeld, Stephanie C. Laniewski, Julie R. Jones, Alejandro Iglesias, Marilyn C. Jones, Diane Masser‐Frye, Angela E. Scheuerle, Denise Perry, Ryan J. Taft, Françoise Le Deist, Miles D. Thompson, Taroh Kinoshita, Philippe M. Campeau

    Gepubliceerd in 2018
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  11. 11
    Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia

    Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia door Jessica L. Zambonin, Allison Bellomo, Hilla Ben‐Pazi, David B. Everman, Lee M. Frazer, Michael T. Geraghty, Amy D. Harper, Julie R. Jones, Benjamin Kamien, Kristin D. Kernohan, Mary Kay Koenig, Matthew A. Lines, Elizabeth E. Palmer, Randal Richardson, Reeval Segel, Mark A. Tarnopolsky, Jason Vanstone, Melissa Gibbons, Abigail Collins, Brent L. Fogel, Tracy Dudding‐Byth, Kym M. Boycott

    Gepubliceerd in 2017
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  12. 12
    Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome

    Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome door Hadia Hijazi, Fernanda S. Coelho, Claudia Gonzaga‐Jauregui, Laura Bernardini, Soe Mar, Melanie A. Manning, Andrea Hanson‐Kahn, SakkuBai Naidu, Siddharth Srivastava, Jennifer A. Lee, Julie R. Jones, Michael J. Friez, Thomas Alberico, Bárbara Torres, Ping Fang, Sau Wai Cheung, Xiaofei Song, Angelique Davis‐Williams, Carly Jornlin, P.A.L. Wight, Pankaj Patyal, Jennifer R. Taube, Andrea Poretti, Ken Inoue, Feng Zhang, Davut Pehli̇van, Claudia M.B. Carvalho, Grace M. Hobson, James R. Lupski

    Gepubliceerd in 2019
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  13. 13
    Redefining the Etiologic Landscape of Cerebellar Malformations

    Redefining the Etiologic Landscape of Cerebellar Malformations door Kimberly A. Aldinger, Andrew E. Timms, Zachary Thomson, Ghayda Mirzaa, James T. Bennett, Alexander Rosenberg, Charles M. Roco, Matthew Hirano, Fatima Abidi, Parthiv Haldipur, Chi Vicky Cheng, Sarah Collins, Kaylee Park, Jordan Zeiger, Lynne M. Overmann, Fowzan S. Alkuraya, Leslie G. Biesecker, Stephen R. Braddock, Sara Cathey, Megan T. Cho, Brian Hon‐Yin Chung, David B. Everman, Yuri A. Zárate, Julie R. Jones, Charles E. Schwartz, Amy Goldstein, Robert J. Hopkin, Ian D. Krantz, Roger L. Ladda, Kathleen A. Leppig, Barbara McGillivray, Susan L. Sell, Katherine Wusik, Joseph G. Gleeson, Deborah A. Nickerson, Michael J. Bamshad, Dianne Gerrelli, Steven Lisgo, Georg Seelig, Gisele E. Ishak, A. James Barkovich, Cynthia J. Curry, Ian Glass, Kathleen J. Millen, Dan Doherty, William B. Dobyns

    Gepubliceerd in 2019
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  14. 14
    <i>GRIN2B</i>encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

    <i>GRIN2B</i>encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects door Konrad Platzer, Hongjie Yuan, Hannah M. Schutz, Alexander Winschel, Wenjuan Chen, Chun Hu, Hirofumi Kusumoto, Henrike Heyne, Katherine L. Helbig, Sha Tang, Marcia Willing, Brad T. Tinkle, Darius J. Adams, Christel Depienne, Boris Keren, Cyril Mignot, Eirik Frengen, Petter Strømme, Saskia Biskup, Dennis Döcker, Tim M. Strom, Heather C. Mefford, Candace T. Myers, Alison M. Muir, Amy Lacroix, Lynette G. Sadleir, Ingrid E. Scheffer, Eva H. Brilstra, Mieke M. van Haelst, Jasper J. van der Smagt, Levinus A. Bok, Rikke S. Møller, Uffe Birk Jensen, J Gordon Millichap, Anne T. Berg, Ethan M. Goldberg, Isabelle De Bie, Stéphanie Fox, Philippe Major, Julie R. Jones, Elaine H. Zackai, Rami Abou Jamra, Arndt Rolfs, Richard J. Leventer, John A. Lawson, Tony Roscioli, Floor E. Jansen, Emmanuelle Ranza, Christian Korff, Anna-Elina Lehesjoki, Carolina Courage, Tarja Linnankivi, Andrew R. Smith, Christine M. Stanley, Mark Mintz, Dianalee McKnight, Amy Decker, Wen‐Hann Tan, Mark A. Tarnopolsky, Lauren Brady, Markus Wolff, Lutz Dondit, Hélio Pedro, Sarah Parisotto, Kelly L. Jones, Anup D. Patel, David Neal Franz, Rena Vanzo, Elysa Marco, Judith D. Ranells, Nataliya Di Donato, William B. Dobyns, Bodo Laube, Stephen F. Traynelis, Johannes R. Lemke

    Gepubliceerd in 2017
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  15. 15
    Autosomal Dominant STAT6 Gain of Function Causes Severe Atopy Associated with Lymphoma

    Autosomal Dominant STAT6 Gain of Function Causes Severe Atopy Associated with Lymphoma door Ekaterina Minskaia, Jesmeen Maimaris, Persephone Jenkins, Adriana S. Albuquerque, Ying Hong, Despina Eleftheriou, Kimberly Gilmour, Richard Grace, Fernando Moreira, Bodo Grimbacher, Zoe Adhya, Hana Alachkar, Ariharan Anantharachagan, Richard Antrobus, Gururaj Arumugakani, Chiara Bacchelli, Helen Baxendale, Claire Bethune, Shahnaz Bibi, Barbara Boardman, Claire Booth, Michael Browning, Mary Brownlie, Siobhán O. Burns, Anita Chandra, Hayley Clifford, Nichola Cooper, Sophie Davies, John Dempster, Lisa Devlin, Rainer Döffinger, Elizabeth Drewe, David Edgar, William Egner, Tariq El‐Shanawany, Bobby Gaspar, Rohit Ghurye, Kimberly Gilmour, Sarah Goddard, Pavel Gordins, Sofia Grigoriadou, Scott Hackett, Rosie Hague, Lorraine Harper, Grant Hayman, Archana Herwadkar, Stephen Hughes, Aarnoud Huissoon, Stephen Jolles, Julie R. Jones, Peter Kelleher, Nigel Klein, Taco W. Kuijpers, Dinakantha Kumararatne, James Laffan, Hana Lango Allen, Sara Lear, Hilary Longhurst, Lorena Lorenzo, Jesmeen Maimaris, Ania Manson, Elizabeth McDermott, Hazel Millar, Anoop Mistry, Valerie Morrisson, Sai Murng, Iman Nasir, Sergey Nejentsev, Sadia Noorani, Eric Oksenhendler, Mark Ponsford, Waseem Qasim, Ellie Quinn, Isabella Quinti, Alexander Richter, Crina Samarghitean, Ravishankar Sargur, Sinisa Savic, Suranjith L. Seneviratne, Carrock Sewall, Fiona Shackley, Ilenia Simeoni, Kenneth G. C. Smith, Emily Staples, Hans J. Stauss, Cathal Steele, James Thaventhiran, Moira Thomas, Adrian J. Thrasher, Steve Welch, Lisa Willcocks, Sarita Workman, Austen Worth, Nigel Yeatman, Patrick Yong, Sofie Ashford, John S. Bradley, Debra Fletcher, Tracey Hammerton, Roger James

    Gepubliceerd in 2023
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  16. 16
    Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans

    Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans door Paul Tuijnenburg, Hana Lango Allen, Siobhán O. Burns, Daniel Greene, Machiel H. Jansen, Emily Staples, Jonathan Stephens, Keren Carss, Daniele Biasci, Helen Baxendale, Moira Thomas, Anita Chandra, Sorena Kiani‐Alikhan, Hilary Longhurst, Suranjith L. Seneviratne, Eric Oksenhendler, Ilenia Simeoni, Godelieve J. de Bree, Anton T. J. Tool, Ester M. M. van Leeuwen, Eduard H.T.M. Ebberink, Alexander B. Meijer, Salih Tuna, Deborah Whitehorn, Matthew A. Brown, Ernest Turro, Adrian J. Thrasher, Kenneth G. C. Smith, James Thaventhiran, Taco W. Kuijpers, Zoe Adhya, Hana Alachkar, Ariharan Anantharachagan, Richard Antrobus, Gururaj Arumugakani, Chiara Bacchelli, Helen Baxendale, Claire Bethune, Shahnaz Bibi, Barbara Boardman, Claire Booth, Michael J. Browning, Mary Brownlie, Siobhán O. Burns, Anita Chandra, Hayley Clifford, Nichola Cooper, Sophie Davies, John Dempster, Lisa Devlin, Rainer Döffinger, Elizabeth Drewe, David Edgar, William Egner, Tariq El‐Shanawany, Bobby Gaspar, Rohit Ghurye, Kimberly Gilmour, Sarah Goddard, Pavel Gordins, Sofia Grigoriadou, Scott Hackett, Rosie Hague, Lorraine Harper, Grant Hayman, Archana Herwadkar, Stephen Hughes, Aarnoud Huissoon, Stephen Jolles, Julie R. Jones, Peter Kelleher, Nigel Klein, Taco W. Kuijpers, Dinakantha Kumararatne, James Laffan, Hana Lango Allen, Sara Lear, Hilary Longhurst, Lorena Lorenzo, Jesmeen Maimaris, Ania Manson, Elizabeth McDermott, Hazel Millar, Anoop Mistry, Valerie Morrisson, Sai Murng, Iman Nasir, Sergey Nejentsev, Sadia Noorani, Éric Oksenhendler, Mark Ponsford, Waseem Qasim, Ellie Quinn, Isabella Quinti, Alex Richter, Crina Samarghitean, Ravishankar Sargur, Sinisa Savic, Suranjith L. Seneviratne, Carrock Sewall

    Gepubliceerd in 2018
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  17. 17
    Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

    Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability door María del Rocío Pérez Baca, Eva Jacobs, Lies Vantomme, Pontus Leblanc, Elke Bogaert, Annelies Dheedene, Laurenz De Cock, Sadegheh Haghshenas, Aidin Foroutan, Michael A. Levy, Jennifer Kerkhof, Haley McConkey, Chun‐An Chen, Nurit Assia Batzir, Xia Wang, María Palomares‐Bralo, Marieke Carels, Pankaj B. Agrawal, Daryl A. Scott, Elizabeth Barkoudah, Melissa Bellini, Claire Bénéteau, Kathrine Bjørgo, Alice S. Brooks, Natasha J. Brown, Alison M. R. Castle, Diana Castro, Odelia Chorin, Mark Cleghorn, Emma Clement, David Coman, Carrie Costin, Koenraad Devriendt, Daixing Dong, Annika M. Dries, Tina Duelund Hjortshøj, David A. Dyment, Christine M. Eng, Casie A. Genetti, Siera Grano, Peter Henneman, Delphine Héron, Katrin Hoffmann, Jason Hom, Haowei Du, Maria Iascone, Bertrand Isidor, Irma Järvelä, Julie R. Jones, Boris Keren, Mary Kay Koenig, Jürgen Kohlhase, Seema R. Lalani, Cédric Le Caignec, Andrew Lewis, Pengfei Liu, Alysia Kern Lovgren, James R. Lupski, Mike Lyons, Philippe A. Lysy, Melanie Manning, Carlo Marcelis, Scott McLean, Sandra Mercie, Mareike Mertens, Arnaud Molin, Mathilde Nizon, Kimberly Nugent, Susanna Öhman, Melanie O’Leary, Rebecca O. Littlejohn, Florence Petit, Rolph Pfundt, Lorraine Pottocki, Annick Raas‐Rotschild, Kara Ranguin, Nicole Revençu, Jill A. Rosenfeld, Lindsay Rhodes, Fernando Santos Simmaro, Karen Sals, Jolanda Schieving, Isabelle Schrauwen, Janneke Schuurs-Hoeijmakers, Eleanor G. Seaby, Ruth Sheffer, Lot Snijders Blok, Kristina P. Sørensen, Siddharth Srivastava, Zornitza Stark, Radka Stoeva, Chloe Stutterd, Natalie B. Tan, Pernille Mathiesen Tørring, Olivier Vanakker, Liselot van der Laan, Athina Ververi, Pablo Villavicencio‐Lorini, Marie Vincent, Dorothea Wand

    Gepubliceerd in 2024
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