תוצאות חיפוש - Laurie Demmer

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  1. 1
    Rat cellular retinol-binding protein II: use of a cloned cDNA to define its primary structure, tissue-specific expression, and developmental regulation.

    Rat cellular retinol-binding protein II: use of a cloned cDNA to define its primary structure, tissue-specific expression, and developmental regulation. מאת E Li, Laurie Demmer, David A. Sweetser, D E Ong, Jeffrey I. Gordon

    יצא לאור 1986
    קבל טקסט מלא
    Artigo
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  2. 2
    Tissue-specific expression and developmental regulation of the rat apolipoprotein B gene.

    Tissue-specific expression and developmental regulation of the rat apolipoprotein B gene. מאת Laurie Demmer, M S Levin, John Elovson, Michael A. Reuben, Aldons J. Lusis, Jeffrey I. Gordon

    יצא לאור 1986
    קבל טקסט מלא
    Artigo
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  3. 3
    Lessons learned from the introduction of personalized genotyping into a medical school curriculum

    Lessons learned from the introduction of personalized genotyping into a medical school curriculum מאת David R. Walt, Amy B Kuhlik, Scott K. Epstein, Laurie Demmer, Meredith Knight, David Chelmow, Michael Rosenblatt, Diana W. Bianchi

    יצא לאור 2010
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    Artigo
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  4. 4
    The cellular retinol binding protein II gene. Sequence analysis of the rat gene, chromosomal localization in mice and humans, and documentation of its close linkage to the cellular retinol binding protein gene.

    The cellular retinol binding protein II gene. Sequence analysis of the rat gene, chromosomal localization in mice and humans, and documentation of its close linkage to the cellular... מאת Laurie Demmer, E H Birkenmeier, David A. Sweetser, M S Levin, Susan Zollman, R S Sparkes, T. Mohandas, Aldons J. Lusis, Jeffrey I. Gordon

    יצא לאור 1987
    קבל טקסט מלא
    Artigo
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  5. 5
    Male‐to‐male transmission of Costello syndrome: G12S <i>HRAS</i> germline mutation inherited from a father with somatic mosaicism

    Male‐to‐male transmission of Costello syndrome: G12S <i>HRAS</i> germline mutation inherited from a father with somatic mosaicism מאת Katia Sol‐Church, Deborah L. Stabley, Laurie Demmer, Abigail Agbulos, Angela E. Lin, Leslie Smoot, Linda K. Nicholson, Karen W. Gripp

    יצא לאור 2009
    קבל טקסט מלא
    Artigo
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  6. 6
    Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability

    Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability מאת Jennifer Malinowski, David T. Miller, Laurie Demmer, Jennifer Gannon, Elaine M. Pereira, Molly C. Schroeder, Maren T. Scheuner, Anne Chun‐Hui Tsai, Scott E. Hickey, Jun Shen

    יצא לאור 2020
    קבל טקסט מלא
    Revisão
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  7. 7
    Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

    Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Gen... מאת Kandamurugu Manickam, Monica R. McClain, Laurie Demmer, Sawona Biswas, Hutton M. Kearney, Jennifer Malinowski, Lauren Massingham, Danny E. Miller, Timothy W. Yu, Fuki M. Hisama

    יצא לאור 2021
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  8. 8
    Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis

    Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis מאת Karen W. Gripp, Dina J. Zand, Laurie Demmer, Carol E. Anderson, William B. Dobyns, Elaine H. Zackai, Elizabeth Denenberg, Kim Jenny, Deborah L. Stabley, Katia Sol‐Church

    יצא לאור 2013
    קבל טקסט מלא
    Artigo
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  9. 9
    Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia

    Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia מאת Angela E. Lin, Barbara O’Brien, Laurie Demmer, Kristina K. Almeda, Cynthia L. Blanco, Patrick F. Glasow, Charles I. Berul, Robert M. Hamilton, A. Micheil Innes, Julie Lauzon, Katia Sol‐Church, Karen W. Gripp

    יצא לאור 2009
    קבל טקסט מלא
    Artigo
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  10. 10
    Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

    Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome מאת Eric G. Bend, Erfan Aref‐Eshghi, David B. Everman, R. Curtis Rogers, Sara Cathey, Eloise J. Prijoles, Michael J. Lyons, Heather L. Davis, Katie Clarkson, Karen W. Gripp, Dong Li, Elizabeth Bhoj, Elaine H. Zackai, Paul R. Mark, Hákon Hákonarson, Laurie Demmer, Michael A. Levy, Jennifer Kerkhof, Alan Stuart, David I. Rodenhiser, Michael J. Friez, Roger E. Stevenson, Charles E. Schwartz, Bekim Sadiković

    יצא לאור 2019
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    Artigo
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  11. 11
    De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies

    De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies מאת Konrad Platzer, Heinrich Sticht, Stacey L. Edwards, William Allen, Kaitlin M. Angione, Maria Teresa Bonati, Campbell K. Brasington, Megan T. Cho, Laurie Demmer, Tzipora C. Falik‐Zaccai, Candace Gamble, Yorck Hellenbroich, Maria Iascone, Fernando Kok, Sonal Mahida, Hanna Mandel, Thorsten Marquardt, Kirsty McWalter, Bianca Panis, Alexander Pepler, Hailey Pinz, Luiza Ramos, Deepali N. Shinde, Constance Smith‐Hicks, Alexander P.A. Stegmann, Petra Stöbe, Constance T. R. M. Stumpel, Carolyn M. Wilson, Johannes R. Lemke, Nataliya Di Donato, Kenneth G. Miller, Rami Abou Jamra

    יצא לאור 2019
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  12. 12
    Clinical Genetic Testing for Patients With Autism Spectrum Disorders

    Clinical Genetic Testing for Patients With Autism Spectrum Disorders מאת Yiping Shen, Kira A. Dies, Ingrid A. Holm, Carolyn Bridgemohan, Magdi M. Sobeih, Elizabeth Caronna, Karen J. Miller, Jean A. Frazier, Iris Silverstein, Jonathan Picker, Laura Weissman, Peter Raffalli, Shafali Jeste, Laurie Demmer, Heather Peters, Stephanie J. Brewster, Sara J. Kowalczyk, Beth Rosen‐Sheidley, Caroline McGowan, Andrew W. Duda, Sharyn A. Lincoln, Kathryn Lowe, Alison Schonwald, Michael Robbins, Fuki M. Hisama, Robert R. Wolff, Ronald E. Becker, Ramzi Nasir, David K. Urion, Jeff M. Milunsky, Leonard Rappaport, James F. Gusella, Christopher A. Walsh, Bai-Lin Wu, David T. Miller

    יצא לאור 2010
    קבל טקסט מלא
    Artigo
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  13. 13
    Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia

    Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia מאת Daniel Moreno‐De‐Luca, Jennifer G. Mullé, Erin B. Kaminsky, Stephan Sanders, Scott M. Myers, Margaret P Adam, Amy T. Pakula, Nancy Eisenhauer, Kim Uhas, LuAnn Weik, Lisa Guy, Melanie Care, Chantal F. Morel, Charlotte Boni, Bonnie Anne Salbert, Ashadeep Chandrareddy, Laurie Demmer, Eva W. C. Chow, Urvashi Surti, Swaroop Aradhya, Diane L. Pickering, Denae M. Golden, Warren G. Sanger, Emily Aston, Arthur R. Brothman, Troy J. Gliem, Erik C. Thorland, Todd Ackley, Ram Iyer, Shuwen Huang, John Barber, John A. Crolla, Stephen T. Warren, Alastair J. Martin, David H. Ledbetter

    יצא לאור 2010
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  14. 14
    Spectrum of K<sub>V</sub>2.1 Dysfunction in <i>KCNB1</i>‐Associated Neurodevelopmental Disorders

    Spectrum of K<sub>V</sub>2.1 Dysfunction in <i>KCNB1</i>‐Associated Neurodevelopmental Disorders מאת Seok Kyu Kang, Carlos G. Vanoye, Sunita N. Misra, Dennis M. Echevarria-Cooper, Jeffrey D. Calhoun, John B. O’Connor, Katarina L. Fabre, Dianalee McKnight, Laurie Demmer, Paula Goldenberg, Lauren Grote, Isabelle Thiffault, Carol Saunders, Kevin A. Strauss, Ali Torkamani, Jasper van der Smagt, Koen L.I. van Gassen, Robert P. Carson, Jullianne Diaz, Eyby Leon, Joseph E. Jacher, Mark C. Hannibal, Jessica Litwin, Neil Friedman, Allison Schreiber, Bryan Lynch, Annapurna Poduri, Eric D. Marsh, Ethan M. Goldberg, J Gordon Millichap, Alfred L. George, Jennifer A. Kearney

    יצא לאור 2019
    קבל טקסט מלא
    Artigo
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  15. 15
    POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies

    POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies מאת Kelly Smallwood, Kristin E.N. Watt, Satoru Ide, Kristina Baltrunaite, Chad Brunswick, Katherine Inskeep, Corrine Capannari, Margaret P Adam, Amber Begtrup, Débora Romeo Bertola, Laurie Demmer, Erin Demo, Orrin Devinsky, Emily R. Gallagher, María J. Guillen Sacoto, Robert Jech, Boris Keren, Jennifer Kussmann, Roger L. Ladda, Lisa A. Lansdon, Sebastian Lunke, Anne H. Mardy, Kirsty McWalters, Richard Person, Laura Raiti, Noriko Saitoh, Carol Saunders, Rhonda E. Schnur, Matěj Škorvánek, Susan L. Sell, Anne Slavotinek, Bonnie Sullivan, Zornitza Stark, Joseph D. Symonds, Tara Wenger, Sacha Weber, Sandra Whalen, Susan M. White, Juliane Winkelmann, Michael Zech, Shimriet Zeidler, Kazuhiro Maeshima, Rolf W. Stottmann, Paul A. Trainor, K. Nicole Weaver

    יצא לאור 2023
    קבל טקסט מלא
    Artigo
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  16. 16
    Recommendations for the integration of genomics into clinical practice

    Recommendations for the integration of genomics into clinical practice מאת Sarah Bowdin, A Gilbert, Emma Bedoukian, Christopher Carew, Margaret P Adam, John W. Belmont, Barbara A. Bernhardt, Leslie G. Biesecker, Hans T. Björnsson, Miriam G. Blitzer, Lisa C.A. D’Alessandro, Matthew A. Deardorff, Laurie Demmer, Alison M. Elliott, Gerald L. Feldman, Ian Glass, Gail E. Herman, Lucia A. Hindorff, Fuki M. Hisama, Louanne Hudgins, A. Micheil Innes, Laird Jackson, Gail P. Jarvik, Raymond H. Kim, Bruce R. Korf, David H. Ledbetter, Mindy Li, Eriskay Liston, Christian R. Marshall, Līvija Medne, M. Stephen Meyn, Nasim Monfared, Cynthia C. Morton, John J. Mulvihill, Sharon E. Plon, Heidi L. Rehm, Amy E. Roberts, Cheryl Shuman, Nancy B. Spinner, Dimitri J. Stavropoulos, Kathleen Valverde, Darrel Waggoner, Alisha Wilkens, Ronald D. Cohn, Ian D. Krantz

    יצא לאור 2016
    קבל טקסט מלא
    Revisão
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  17. 17
    ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

    ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients מאת Bobby G. Ng, Sergey A. Shiryaev, Daisy Rymen, Erik A. Eklund, Kimiyo Raymond, Martin Kircher, José E. Abdenur, Füsun Alehan, Alina T. Midro, Michael J. Bamshad, Rita Barone, Gerard T. Berry, Jane E. Brumbaugh, Kati J. Buckingham, Katie Clarkson, F. Sessions Cole, Shawn O’Connor, Gregory M. Cooper, Rudy Van Coster, Laurie Demmer, Luísa Diogo, Alexander Fay, Can Fıçıcıoğlu, Agata Fiumara, William A. Gahl, Rebecca Ganetzky, Himanshu Goel, Lyndsay A. Harshman, Miao He, Jaak Jaeken, Philip James, Daniel Katz, Liesbeth Keldermans, Maria Kibæk, Andrew J. Kornberg, Katherine Lachlan, Christina Lam, Joy Yaplito‐Lee, Deborah A. Nickerson, Heidi Peters, Valérie Race, Luc Régal, Jeffrey S. Rush, S. Lane Rutledge, Jay Shendure, Erika Souche, Susan Sparks, Pamela Trapane, Amarilis Sanchez‐Valle, Éric Vilain, Arve Vøllo, Charles J. Waechter, Raymond Wang, Lynne A. Wolfe, Derek A. Wong, Tim Wood, Amy Yang, Gert Matthijs, Hudson H. Freeze

    יצא לאור 2016
    קבל טקסט מלא
    Artigo
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  18. 18
    Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy

    Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy מאת Johann Böhm, Valérie Biancalana, Elizabeth T. DeChene, Marc Bitoun, Christopher R. Pierson, Élise Schaefer, Hatice Karasoy, Melissa A Dempsey, Fabrice Klein, Nicolas Dondaine, Christine Kretz, Nicolas Haumesser, Claire Poirson, Anne Toussaint, Rebecca S. Greenleaf, Melissa A. Barger, Lane J. Mahoney, Peter B. Kang, Edmar Zanoteli, John Vissing, Nanna Witting, Andoni Echaniz‐Laguna, Carina Wallgren‐Pettersson, James J. Dowling, Luciano Merlini, Anders Oldfors, Lilian Bomme Ousager, Judith Melki, Amanda Krause, Christina Jern, Acary Sousa Bulle Oliveira, Florence Petit, Aurélia Jacquette, Annabelle Chaussenot, David Mowat, Bruno Leheup, Michele Cristofano, Juan José Poza Aldea, Fabrice Michel, A. Furby, José Eulalio Bárcena, Rudy Van Coster, Enrico Bertini, Jon Andoni Urtizberea, Valérie Drouin‐Garraud, Christophe Béroud, Bernard Prudhon, Melanie Bedford, Katherine D. Mathews, Lori A.H. Erby, Stephen A. Smith, Jennifer Roggenbuck, Carol A. Crowe, Allison Brennan Spitale, Sheila C. Johal, Anthony A. Amato, Laurie Demmer, Jessica Jonas, Basil T. Darras, Thomas D. Bird, Mercy Laurino, Selman I. Welt, Cynthia Trotter, Pascale Guicheney, Soma Das, Jean‐Louis Mandel, Alan H. Beggs, Jocelyn Laporte

    יצא לאור 2012
    קבל טקסט מלא
    Artigo
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  19. 19
    Cornelia de Lange syndrome in diverse populations

    Cornelia de Lange syndrome in diverse populations מאת Leah Dowsett, Antonio R. Porras, Paul Kruszka, Brandon Davis, Tommy Hu, Engela Honey, Ëben Badoe, Meow‐Keong Thong, Eyby Leon, Katta M. Girisha, Anju Shukla, Shalini S. Nayak, Vorasuk Shotelersuk, André Mégarbané, Shubha R. Phadke, Nirmala D. Sirisena, Vajira H. W. Dissanayake, Carlos R. Ferreira, Monisha S. Kisling, Pranoot Tanpaiboon, Annette Uwineza, Léon Mutesa, Cedrik Tekendo‐Ngongang, Ambroise Wonkam, Karen Fieggen, Letícia Cassimiro Batista, Danilo Moretti‐Ferreira, Roger E. Stevenson, Eloise J. Prijoles, David B. Everman, Kate B. Clarkson, Jessica Worthington, Virginia Kimonis, Fuki M. Hisama, Carol A. Crowe, Paul Wong, Kisha Johnson, Robin D. Clark, Lynne M. Bird, Diane Masser‐Frye, Timothy J. McDonald, Patrick J. Willems, Elizabeth Roeder, Sulgana Saitta, Kwame Anyane‐Yeoba, Laurie Demmer, Naoki Hamajima, Zornitza Stark, Greta Gillies, Louanne Hudgins, Usha Dave, Stavit A. Shalev, Victoria Mok Siu, Neerja Gupta, Madhulika Kabra, Angus Ades, Holly Dubbs, Sarah E. Raible, Maninder Kaur, Emanuela Salzano, Laird S. Jackson, Matthew A. Deardorff, Antonie D. Kline, Marshall Summar, Maximilian Muenke, Marius George Linguraru, Ian D. Krantz

    יצא לאור 2019
    קבל טקסט מלא
    Artigo
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  20. 20
    <i>PURA-</i> Related Developmental and Epileptic Encephalopathy

    <i>PURA-</i> Related Developmental and Epileptic Encephalopathy מאת Katrine M. Johannesen, Elena Gardella, Cathrine E. Gjerulfsen, Allan Bayat, Rob P.W. Rouhl, Margot R.F. Reijnders, Sandra Whalen, Boris Keren, Julien Buratti, Thomas Courtin, Klaas J. Wierenga, Bertrand Isidor, Amélie Piton, Laurence Faivre, Aurore Garde, Sébastien Moutton, Frédéric Tran Mau‐Them, Anne‐Sophie Denommé‐Pichon, Christine Coubes, Austin Larson, Michael J. Esser, Juan Pablo Appendino, Walla Al‐Hertani, Beatriz Gamboni, Alejandra Mampel, Lía Mayorga, Alessandro Orsini, Alice Bonuccelli, Agnese Suppiej, Julien Van‐Gils, Julie Vogt, Simona Damioli, Lucio Giordano, Stéphanie Moortgat, Elaine Wirrell, Sarah Hicks, Usha Kini, Nathan Noble, Helen Stewart, Shailesh Asakar, Julie S. Cohen, Sakkubai Naidu, Ashley Collier, Eva H. Brilstra, Mindy H. Li, Casey Brew, Stefania Bigoni, Davide Ognibene, Elisa Ballardini, Claudia Ruivenkamp, Raffaella Faggioli, Alexandra Afenjar, Diana Rodriguez, David Bick, Devorah Segal, David Coman, Boudewijn Gunning, Orrin Devinsky, Laurie Demmer, Theresa A. Grebe, Dario Pruna, Ida Cursio, Lynn Greenhalgh, Claudio Graziano, Rahul Raman Singh, Gaetano Cantalupo, Marjolaine Willems, Sangeetha Yoganathan, Fernanda Veiga de Góes, Richard J. Leventer, Davide Colavito, Sara Olivotto, Barbara Scelsa, Andrea Andrade, Kelly Ratke, F Tokarz, Atiya Khan, Clothilde Ormières, William Benko, Karen Keough, Sotirios Keros, Shanawaz Hussain, Ashlea Franques, Felicia Varsalone, Sabine Grønborg, Cyril Mignot, Delphine Héron, Caroline Nava, Arnaud Isapof, Felippe Borlot, Robyn Whitney, Anne Ronan, Nicola Foulds, Marta Somorai, John F. Brandsema, Katherine L. Helbig, Ingo Helbig, Xilma R. Ortiz‐González, Holly Dubbs, Antonio Vitobello

    יצא לאור 2021
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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