Výsledky vyhledávání - G. Bradley Schaefer

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  1. 1
    Clinical Genetic Aspects of Autism Spectrum Disorders

    Clinical Genetic Aspects of Autism Spectrum Disorders Autor G. Bradley Schaefer

    Vydáno 2016
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  2. 2
    Clinical genetics evaluation in identifying the etiology of autism spectrum disorders

    Clinical genetics evaluation in identifying the etiology of autism spectrum disorders Autor G. Bradley Schaefer, Nancy J. Mendelsohn

    Vydáno 2008
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  3. 3
    Diagnostic yield in the clinical genetic evaluation of autism spectrum disorders

    Diagnostic yield in the clinical genetic evaluation of autism spectrum disorders Autor G. Bradley Schaefer, Richard E. Lutz

    Vydáno 2006
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  4. 4
    Thermography based breast cancer analysis using statistical features and fuzzy classification

    Thermography based breast cancer analysis using statistical features and fuzzy classification Autor G. Bradley Schaefer, Michal Závišek, Tomoharu Nakashima

    Vydáno 2008
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  5. 5
    A novel approach in pediatric telegenetic services: geneticist, pediatrician and genetic counselor team

    A novel approach in pediatric telegenetic services: geneticist, pediatrician and genetic counselor team Autor Shobana Kubendran, Siddharthan Sivamurthy, G. Bradley Schaefer

    Vydáno 2017
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  6. 6
    Cleft Lip and Palate: Association with Other Congenital Malformations

    Cleft Lip and Palate: Association with Other Congenital Malformations Autor Soraya Beriaghi, Sandra Myers, Scott A. Jensen, Shanti Kaimal, Cynthia Chan, G. Bradley Schaefer

    Vydáno 2009
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  7. 7
    Acquired von Willebrand's disease in the myeloproliferative syndrome

    Acquired von Willebrand's disease in the myeloproliferative syndrome Autor Ulrich Budde, G. Bradley Schaefer, Nicolas J. Mueller, H. Egli, J Dent, Z Ruggeri, T Zimmerman

    Vydáno 1984
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  8. 8
    Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

    Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes Autor Jill A. Rosenfeld, Ryan N. Traylor, G. Bradley Schaefer, Elizabeth McPherson, Blake C. Ballif, Eva Klopocki, Stefan Mundlos, Lisa G. Shaffer, Arthur S. Aylsworth

    Vydáno 2012
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  9. 9
    Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity.

    Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity. Autor Maximilian Muenke, Fiorella Gurrieri, Christiane Bay, Yi Duan, Amanda Collins, Virginia P. Johnson, Raoul C. M. Hennekam, G. Bradley Schaefer, LuAnn Weik, Mark Lubinsky

    Vydáno 1994
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  10. 10
    Novel de novo <i><scp>EEF</scp>1A2</i> missense mutations causing epilepsy and intellectual disability

    Novel de novo <i><scp>EEF</scp>1A2</i> missense mutations causing epilepsy and intellectual disability Autor Wayne Lam, J Gordon Millichap, Dinesh C. Soares, Richard Chin, Ailsa McLellan, David Fitzpatrick, Frances Elmslie, Melissa Lees, G. Bradley Schaefer, Catherine M. Abbott

    Vydáno 2016
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  11. 11
    A specific mutation in<i>TBL1XR1</i>causes Pierpont syndrome

    A specific mutation in<i>TBL1XR1</i>causes Pierpont syndrome Autor Charlotte A. Heinen, Aldo Jongejan, Peter J. Watson, B. Redeker, Anita Boelen, Olga Boudzovitch‐Surovtseva, Francesca Forzano, Roel Hordijk, Richard I. Kelley, Ann Haskins Olney, Mary Ella Pierpont, G. Bradley Schaefer, Fiona Stewart, A.S. Paul van Trotsenburg, Eric Fliers, John W. R. Schwabe, Raoul C. M. Hennekam

    Vydáno 2016
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  12. 12
    Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features

    Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features Autor Hallie Steinfeld, Megan T. Cho, Kyle Retterer, Rick Person, G. Bradley Schaefer, Noelle R. Danylchuk, Saleem Malik, Stephanie Burns Wechsler, Patricia G. Wheeler, Koen L.I. van Gassen, Paulien A. Terhal, Virginie J. M. Verhoeven, Marjon A. van Slegtenhorst, Kristin G. Monaghan, Lindsay B. Henderson, Wendy K. Chung

    Vydáno 2016
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  13. 13
    De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function

    De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function Autor Matthis Synofzik, Katherine L. Helbig, Florian Harmuth, Tine Deconinck, Pranoot Tanpaiboon, Bo Sun, Wenting Guo, Ruiwu Wang, Erika Palmaer, Sha Tang, G. Bradley Schaefer, Janina Gburek‐Augustat, Stephan Züchner, Ingeborg Krägeloh‐Mann, Jonathan Baets, Peter De Jonghe, Peter Bauer, S.R. Wayne Chen, Lüdger Schöls, Rebecca Schüle

    Vydáno 2018
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  14. 14
    Recombinant human acid α-glucosidase enzyme therapy for infantile glycogen storage disease type II: Results of a phase I/II clinical trial

    Recombinant human acid α-glucosidase enzyme therapy for infantile glycogen storage disease type II: Results of a phase I/II clinical trial Autor Andrea Amalfitano, A. Resai Bengur, Richard P. Morse, Joseph M. Majure, Laura E. Case, Deborah L. Veerling, Joanne Mackey, Priya S. Kishnani, Wendy E. Smith, Alison McVie‐Wylie, Jennifer A. Sullivan, George Hoganson, John A. Phillips, G. Bradley Schaefer, Joel Charrow, Russell E. Ware, Edward H. Bossen, Yuan-Tsong Chen

    Vydáno 2001
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  15. 15
    Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors

    Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors Autor Christina Lam, Gretchen Golas, Mariska Davids, Marjan Huizing, Megan Kane, Donna M. Krasnewich, May Christine V. Malicdan, David R. Adams, Thomas C. Markello, Wadih M. Zein, Andrea Gropman, Maya Lodish, Constantine A. Stratakis, Irina Marić, Sergio D. Rosenzweig, Eva H. Baker, Carlos R. Ferreira, Noelle R. Danylchuk, Stephen G. Kahler, Adolfo D. Garnica, G. Bradley Schaefer, Cornelius F. Boerkoel, William A. Gahl, Lynne A. Wolfe

    Vydáno 2015
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  16. 16
    Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency

    Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency Autor David B. Beck, Ana Petracovici, Chongsheng He, Hannah W. Moore, Raymond J. Louie, Muhammad Ansar, Sofia Douzgou, Sivagamy Sithambaram, Trudie Cottrell, Regie Lyn P. Santos‐Cortez, Eloise J. Prijoles, Renee Bend, Boris Keren, Cyril Mignot, Marie-Christine Nougues, Katrin Õunap, Tiia Reimand, Sander Pajusalu, Muhammad Zahid, Muhammad Arif Nadeem Saqib, Julien Buratti, Eleanor G. Seaby, Kirsty McWalter, Aida Telegrafi, Dustin Baldridge, Marwan Shinawi, Suzanne M. Leal, G. Bradley Schaefer, Roger E. Stevenson, Siddharth Banka, Roberto Bonasio, Jill A. Fahrner

    Vydáno 2020
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  17. 17
    Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability

    Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability Autor Lin Li, Mohammad Ghorbani, Monika Weisz-Hubshman, Justine Rousseau, Isabelle Thiffault, Rhonda E. Schnur, Catherine Breen, Renske Oegema, Marjan M. Weiss, Quinten Waisfisz, Sara Welner, Helen Kingston, Jordan A. Hills, Elles M. J. Boon, Lina Basel‐Salmon, Osnat Konen, Hadassa Goldberg‐Stern, Lily Bazak, Shay Tzur, Jianliang Jin, Xiuli Bi, Michael Bruccoleri, Kirsty McWalter, Megan T. Cho, Maria I. Scarano, G. Bradley Schaefer, Susan Sklower Brooks, Susan Hughes, Koen L.I. van Gassen, Johanna M. van Hagen, Tej K. Pandita, Pankaj B. Agrawal, Philippe M. Campeau, Xiang‐Jiao Yang

    Vydáno 2019
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  18. 18
    Genotypic and phenotypic analysis of 396 individuals with mutations in<i>Sonic Hedgehog</i>

    Genotypic and phenotypic analysis of 396 individuals with mutations in<i>Sonic Hedgehog</i> Autor Benjamin D. Solomon, Kelly Bear, Adrian Wyllie, Amelia A. Keaton, Christèle Dubourg, Véronique David, Sandra Mercier, Sylvie Odent, Ute Hehr, Aimée Paulussen, Nancy J. Clegg, Mauricio R. Delgado, Sherri J. Bale, Felicitas Lacbawan, Holly H Ardinger, Arthur S. Aylsworth, Ntombenhle Louisa Bhengu, Stephen R. Braddock, Karen Brookhyser, Barbara K. Burton, Harald Gaspar, Art Grix, Dafne Dain Gandelman Horovitz, Erin Kanetzke, Hülya Kayserili, Dorit Lev, Sarah M. Nikkel, Mary E. Norton, Richard M. Roberts, Howard M. Saal, G. Bradley Schaefer, Adele Schneider, E. Smith, Ellen Sowry, M. Anne Spence, Stavit A. Shalev, Carlos Eduardo Steiner, Elizabeth M. Thompson, Thomas Winder, Joan Z. Balog, Donald W. Hadley, Nan Zhou, Daniel Pineda‐Alvarez, Erich Roessler, Maximilian Muenke

    Vydáno 2012
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  19. 19
    De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia

    De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia Autor Hanneke A. Haijes, Maria J.E. Koster, Holger Rehmann, Dong Li, Hákon Hákonarson, Gerarda Cappuccio, Miroslava Hančárová, Daphné Lehalle, William Reardon, G. Bradley Schaefer, Anna Lehman, Ingrid M.B.H. van de Laar, Coranne D. Tesselaar, Clesson Turner, Alice Goldenberg, Sophie Patrier, Julien Thévenon, Michele Pinelli, Nicola Brunetti‐Pierri, Darina Prchalová, Markéta Havlovicová, Markéta Vlčková, Zdeněk Sedláček, Elena Lopez‐Rangel, Vassilis Ragoussis, Alistair T. Pagnamenta, Usha Kini, Harmjan R. Vos, Robert M. van Es, Richard F.M.A. van Schaik, Ton A.J. van Essen, Maria Kibæk, Jenny C. Taylor, Jennifer A. Sullivan, Vandana Shashi, Slavé Petrovski, Christina Fagerberg, Donna M. Martin, Koen L.I. van Gassen, Rolph Pfundt, Marni J. Falk, Elizabeth M. McCormick, H. T. Marc Timmers, Peter M. van Hasselt

    Vydáno 2019
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  20. 20
    Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

    Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations Autor Jennifer J. Johnston, Julie C. Sapp, Joyce Turner, David J. Amor, Salim Aftimos, Kyrieckos A. Aleck, Maureen Bocian, Joann Bodurtha, Gerald F. Cox, Cynthia J. Curry, Ruth Day, Dian Donnai, Michael Field, Ikuma Fujiwara, Michael T. Gabbett, Moran Gal, John M. Graham, Peter Hedera, Raoul C. M. Hennekam, Joseph H. Hersh, Robert J. Hopkin, Hülya Kayserili, Alexa Kidd, Virginia Kimonis, Angela E. Lin, Sally Ann Lynch, Melissa K. Maisenbacher, Sahar Mansour, Julie McGaughran, Lakshmi Mehta, Helen Murphy, Margarita Raygada, Nathaniel H. Robin, Alan F. Rope, Kenneth N. Rosenbaum, G. Bradley Schaefer, Amy Shealy, Wendy E. Smith, Maria Soller, Annmarie Sommer, Heather J. Stalker, Bernhard Steiner, Mark J. Stephan, David Tilstra, Susan Tomkins, Pamela Trapane, Anne Chun-Hui Tsai, Margot I. Van Allen, Pradeep Vasudevan, Bernhard Zabel, Janice Zunich, Graeme Black, Leslie G. Biesecker

    Vydáno 2010
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