检索结果 - Natalie Hauser

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  1. 1
    Variable dietary management of methylmalonic acidemia: metabolic and energetic correlations

    Variable dietary management of methylmalonic acidemia: metabolic and energetic correlations 由 Natalie Hauser, Irini Manoli, Jennifer Graf, Jennifer L. Sloan, Charles P. Venditti

    出版 2010
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  2. 2
    Deletion of <i>GPIHBP1</i> causing severe chylomicronemia

    Deletion of <i>GPIHBP1</i> causing severe chylomicronemia 由 Jonathan J. Rios, Savitha Shastry, Juan Jasso, Natalie Hauser, Abhimanyu Garg, André Bensadoun, Jonathan C. Cohen, Helen H. Hobbs

    出版 2011
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  3. 3
    MRI Characteristics of Globus Pallidus Infarcts in Isolated Methylmalonic Acidemia

    MRI Characteristics of Globus Pallidus Infarcts in Isolated Methylmalonic Acidemia 由 Eva H. Baker, Jennifer L. Sloan, Natalie Hauser, Andrea Gropman, Dan Adams, Camilo Toro, Irini Manoli, Charles P. Venditti

    出版 2014
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  4. 4
    Cryptic Chromosomal Abnormalities Identified in Children With Congenital Heart Disease

    Cryptic Chromosomal Abnormalities Identified in Children With Congenital Heart Disease 由 Ashleigh A. Richards, Lane J. Jaeckle Santos, Haley A. Nichols, Bill P. Crider, F.F.B. Elder, Natalie Hauser, Andrew R. Zinn, Vidu Garg

    出版 2008
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  5. 5
    Whole exome sequence analysis of Peters anomaly

    Whole exome sequence analysis of Peters anomaly 由 Eric Weh, Linda M. Reis, Hannah C. Happ, Alex V. Levin, Patricia G. Wheeler, Karen L. David, Erin Carney, Brad Angle, Natalie Hauser, Elena V. Semina

    出版 2014
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  6. 6
    De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism

    De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism 由 Linshan Shang, Lindsay B. Henderson, Megan T. Cho, Donald Petrey, Chin-To Fong, Katrina Haude, Natasha Shur, Julie Lundberg, Natalie Hauser, Jason Carmichael, Jeffrey W. Innis, Jane L. Schuette, Yvonne W. Wu, Shailesh Asaikar, Margaret A. Pearson, Leandra Folk, Kyle Retterer, Kristin G. Monaghan, Wendy K. Chung

    出版 2015
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  7. 7
    Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1

    Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1 由 Alleene V. Strickland, Maria Schabhüttl, H. Offenbacher, Matthis Synofzik, Natalie Hauser, Michaela Brunner‐Krainz, U Gruber‐Sedlmayr, Steven A. Moore, Reinhard Windhager, Benjamin Bender, Matthew B. Harms, Stephan Klebe, Peter Young, Marina Kennerson, Avencia Sanchez Mejias Garcia, Michael Gonzalez, Stephan Züchner, Rebecca Schüle, Michael E. Shy, Michaela Auer‐Grumbach

    出版 2015
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  8. 8
    Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility

    Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility 由 Jia‐Chi Wang, Leslie Ross, Loretta W Mahon, Renius Owen, Morteza Hemmat, Boris T Wang, Mohammed El Naggar, Kimberly A Kopita, Linda M. Randolph, John Chase, Maria J Matas Aguilera, Juan López Siles, Joseph A. Church, Natalie Hauser, Joseph Shen, Marilyn C. Jones, Klaas J. Wierenga, Zhijie Jiang, Mary Haddadin, Fatih Z Boyar, Arturo Anguiano, Charles M. Strom, Trilochan Sahoo

    出版 2014
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  9. 9
    Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria

    Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria 由 Jennifer L. Sloan, Jennifer J. Johnston, Irini Manoli, Randy J. Chandler, Caitlin Krause, Nuria Carrillo, Suma Chandrasekaran, Justin R. Sysol, Kevin O’Brien, Natalie Hauser, Julie C. Sapp, Heidi Dorward, Marjan Huizing, Bruce A. Barshop, Susan A. Berry, Philip James, Neena L. Champaigne, Pascale de Lonlay, Vassilli Valayannopoulos, Michael D. Geschwind, Dimitar K. Gavrilov, William L. Nyhan, Leslie G. Biesecker, Charles P. Venditti

    出版 2011
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  10. 10
    Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to <i>FBXL4</i> mutations

    Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to <i>FBXL4</i> mutations 由 Martina Huemer, Daniela Karall, Anna Schossig, José E. Abdenur, Fatma Al Jasmi, Caroline Biagosch, Felix Distelmaier, Peter Freisinger, Brett H. Graham, Tobias B. Haack, Natalie Hauser, Jozef Hertecant, Darius Ebrahimi‐Fakhari, Vassiliki Konstantopoulou, Karen Leydiker, Charles Marques Lourenço, Sabine Scholl‐Bürgi, Ekkehard Wilichowski, Nicole I. Wolf, Saskia B. Wortmann, Robert W. Taylor, Johannes A. Mayr, Penelope E. Bonnen, Wolfgang Sperl, Holger Prokisch, Robert McFarland

    出版 2015
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  11. 11
    <scp><i>SCN3A</i></scp>‐Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation

    <scp><i>SCN3A</i></scp>‐Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation 由 Tariq Zaman, Katherine L. Helbig, Jérôme Clatot, Christopher H. Thompson, Seok Kyu Kang, Katrien Stouffs, Anna Jansen, Lieve Verstraete, Adeline Jacquinet, Elena Parrini, Renzo Guerrini, Yuh Fujiwara, Satoko Miyatake, Bruria Ben‐Zeev, Haim Bassan, Orit Reish, Daphna Marom, Natalie Hauser, Thuy‐Anh Vu, Sally Ackermann, Careni Spencer, Natalie Lippa, Shraddha Srinivasan, Agnieszka Charzewska, Dorota Hoffman‐Zacharska, David Fitzpatrick, Victoria Harrison, Pradeep Vasudevan, Shelagh Joss, Daniela T. Pilz, Katherine A. Fawcett, Ingo Helbig, Naomichi Matsumoto, Jennifer A. Kearney, Andrew E. Fry, Ethan M. Goldberg

    出版 2020
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  12. 12
    FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants

    FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants 由 Diana Mitter, Milka Pringsheim, Marc Kaulisch, Kim Sarah Plümacher, Simone Schröder, Rita Warthemann, Rami Abou Jamra, Martina Baethmann, Thomas Bast, Hans-Martin Büttel, Julie S. Cohen, Elizabeth Conover, Carolina Courage, Angelika Eger, Ali Fatemi, Theresa A. Grebe, Natalie Hauser, Wolfram Heinritz, Katherine L. Helbig, Marion Heruth, Dagmar Huhle, Karen Höft, Stephanie Karch, Gerhard Kluger, Georg Christoph Korenke, Johannes R. Lemke, Richard E. Lutz, Steffi Patzer, Isabelle Prehl, Konstanze Hoertnagel, Keri Ramsey, Tina Rating, Angelika Rieß, Luis Rohena, Mareike Schimmel, Rachel Westman, Frank-Martin Zech, Barbara Zoll, Dörthe Malzahn, Birgit Zirn, Knut Brockmann

    出版 2017
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  13. 13
    Expanding the phenotype of <scp><i>ASXL3</i></scp>‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in <scp><i>ASXL3</i></scp>

    Expanding the phenotype of <scp><i>ASXL3</i></scp>‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in <sc... 由 Schaida Schirwani, Shadi Albaba, Deanna Alexis Carere, María J. Guillen Sacoto, Francisca Milan Zamora, Yue Si, Rachel Rabin, John Pappas, Deborah L. Renaud, Natalie Hauser, Evan Reid, Patricia Blanchet, Nichola Foulds, Abhijit Dixit, Richard Fisher, Ruth Armstrong, Bertrand Isidor, Benjamin Cogné, Samantha A. Schrier Vergano, Serwet Demirdas, Natalie Dykzeul, Julie S. Cohen, Katheryn Grand, Dayna Morel Swols, Anne Slavotinek, Hessa F. Albassam, Swati Naik, John Dean, Nicola Ragge, Cinzia Costa, Maria Giovanna Tedesco, Rachel Harrison, Arjan Bouman, Emily Palen, Thomas D. Challman, Marjolein H. Willemsen, Julie Vogt, Christopher Cunniff, Katherine Bergstrom, Jagdeep S. Walia, Ange‐Line Bruel, Usha Kini, Fowzan S. Alkuraya, Valerie Slegesky, Naomi Meeks, Paula Natale Girotto, Diana Johnson, Ruth Newbury‐Ecob, Charlotte W. Ockeloen, Paolo Prontera, Sally Ann Lynch, Dong Li, John M. Graham, Tyler Mark Pierson, Meena Balasubramanian

    出版 2021
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  14. 14
    Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability

    Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability 由 Chaofan Zhang, Angad Jolly, Brian J. Shayota, Juliana F. Mazzeu, Haowei Du, Moez Dawood, Patricia Celestino Soper, Ariadne Ramalho de Lima, Bárbara Merfort Ferreira, Zeynep Coban‐Akdemir, Janson J. White, Deborah Shears, Fraser Robert Thomson, Sarah Louise Douglas, Andrew Wainwright, Kathryn Bailey, B P Wordsworth, Mike Oldridge, Tracy Lester, Alistair Calder, Katja Dumić, Siddharth Banka, Dian Donnai, Shalini N. Jhangiani, Lorraine Potocki, Wendy K. Chung, Sara Mora, Hope Northrup, Myla Ashfaq, Jill A. Rosenfeld, Kati J. Mason, Lynda Pollack, Allyn McConkie‐Rosell, Wei Kelly, Marie McDonald, Natalie Hauser, Peter Leahy, Cynthia M. Powell, Raquel Boy, Rachel Sayuri Honjo, Fernando Kok, Lúcia Martelli, Vicente Odone Filho, Genomics England Research Consortium, Donna M. Muzny, Richard A. Gibbs, Jennifer E. Posey, Pengfei Liu, James R. Lupski, V. Reid Sutton, Claudia M.B. Carvalho

    出版 2021
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  15. 15
    Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

    Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants 由 Li Xin Zhang, Gabrielle Lemire, Claudia Gonzaga‐Jauregui, Sirinart Molidperee, Carolina Galaz-Montoya, David S. Liu, Alain Verloès, Amelle Shillington, Kosuke Izumi, Alyssa Ritter, Beth Keena, Elaine H. Zackai, Dong Li, Elizabeth Bhoj, Jennifer Tarpinian, Emma Bedoukian, Mary K. Kukolich, A. Micheil Innes, Grace U. Ediae, Sarah L. Sawyer, Karippoth Mohandas Nair, Para Chottil Soumya, Kinattinkara R. Subbaraman, Frank J. Probst, Jennifer A. Bassetti, Reid Sutton, Richard A. Gibbs, Chester Brown, Philip M. Boone, Ingrid A. Holm, Marco Tartaglia, Giovanni Battista Ferrero, Marcello Niceta, Maria Lisa Dentici, Francesca Clementina Radio, Boris Keren, Constance Wells, Christine Coubes, Annie Laquerrière, Jacqueline Aziza, Charlotte Dubucs, Sheela Nampoothiri, David Mowat, Millan S. Patel, Ana Bracho, Francisco Cammarata‐Scalisi, Alper Gezdirici, Alberto Fernández‐Jaén, Natalie Hauser, Yuri A. Zárate, Katherine A. Bosanko, Klaus Dieterich, John C. Carey, Jessica X. Chong, Deborah A. Nickerson, Michael J. Bamshad, Brendan Lee, Xiang-Jiao Yang, James R. Lupski, Philippe M. Campeau

    出版 2020
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  16. 16
    De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

    De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome 由 Jung‐Hyun Kim, Deepali N. Shinde, Margot R.F. Reijnders, Natalie Hauser, Rebecca L. Belmonte, G. R. Wilson, Daniëlle G.M. Bosch, Paula A. Bubulya, Vandana Shashi, Slavé Petrovski, Joshua K. Stone, Eun Young Park, Joris A. Veltman, Margje Sinnema, Connie T. R. M. Stumpel, Jos Draaisma, Joost Nicolai, Helger G. Yntema, Kristin Lindstrom, Bert B.A. de Vries, Tamison Jewett, Stephanie L. Santoro, Julie Vogt, Kristine Bachman, Andrea Seeley, Alyson Krokosky, Clesson Turner, Luis Rohena, Maja Hempel, Fanny Kortüm, Davor Lessel, Axel Neu, Tim M. Strom, Dagmar Wieczorek, Nuria C. Bramswig, Franco Laccone, Jana Behunova, Helga Rehder, Christopher T. Gordon, Marlène Rio, Serge Romana, Sha Tang, Dima El‐Khechen, Megan T. Cho, Kirsty McWalter, Ganka Douglas, Berivan Baskin, Amber Begtrup, Tara Funari, Kelly Schoch, Alexander P.A. Stegmann, Servi J.C. Stevens, Dong‐Er Zhang, David Traver, Xu Yao, Daniel G. MacArthur, Han G. Brunner, Grazia M.S. Mancini, R Myers, Laurie B. Owen, Ssang‐Taek Lim, David L. Stachura, Lisenka E.L.M. Vissers, E. Ahn

    出版 2016
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  17. 17
    Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

    Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome 由 Sarah E. Sheppard, Ian M. Campbell, Margaret Harr, Nina B. Gold, Dong Li, Hans T. Björnsson, Julie S. Cohen, Jill A. Fahrner, Ali Fatemi, Jacqueline Harris, C. Nowak, Cathy A. Stevens, Katheryn Grand, Margaret Au, John M. Graham, Pedro A. Sanchez‐Lara, Miguel Del Campo, Marilyn C. Jones, Omar Abdul‐Rahman, Fowzan S. Alkuraya, Jennifer A. Bassetti, Katherine Bergstrom, Elizabeth Bhoj, Sarah Dugan, Julie Kaplan, Nada Derar, Karen W. Gripp, Natalie Hauser, A. Micheil Innes, Beth Keena, Neslida Kodra, Rebecca L. Miller, Beverly Nelson, Małgorzata J.M. Nowaczyk, Zuhair Rahbeeni, Shay Ben‐Shachar, Joseph T.C. Shieh, Anne Slavotinek, Andrew K. Sobering, Mary‐Alice Abbott, Dawn C. Allain, Louise Amlie‐Wolf, Ping Yee Billie Au, Emma Bedoukian, Geoffrey Beek, James S. Barry, Janet Berg, Jonathan A. Bernstein, Cheryl Cytrynbaum, Brian Hon‐Yin Chung, Sarah Donoghue, Naghmeh Dorrani, Alison Eaton, Josue A. Flores‐Daboub, Holly Dubbs, Carolyn A. Felix, Chin‐To Fong, Jasmine Lee Fong Fung, Balram Gangaram, Amy Goldstein, Rotem Greenberg, Thoa K. Ha, Joseph H. Hersh, Kosuke Izumi, Staci Kallish, Elijah Kravets, Pui‐Yan Kwok, Rebekah Jobling, Amy E. Knight Johnson, Jessica D. Kushner, Bo Hoon Lee, Brooke Levin, Kristin Lindstrom, Kandamurugu Manickam, Rebecca Mardach, Elizabeth M. McCormick, D. Ross McLeod, Frank Mentch, Kelly Q. Minks, Colleen Muraresku, Stanley F. Nelson, Patrizia Porazzi, Pavel N. Pichurin, Nina Powell‐Hamilton, Zöe Powis, Alyssa Ritter, Caleb Rogers, Luis Rohena, Carey Ronspies, Audrey Schroeder, Zornitza Stark, Lois J. Starr, Joan M. Stoler, Pim Suwannarat, Milen Velinov, Rosanna Weksberg, Yael Wilnai, Neda Zadeh, Dina J. Zand, Marni J. Falk

    出版 2021
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