检索结果 - Marilyn C. Jones

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  1. 1
    A fetal diagnostic center’s referral rate for perinatal palliative care

    A fetal diagnostic center’s referral rate for perinatal palliative care 由 Krishelle Marc-Aurele, Andrew Hull, Marilyn C. Jones, Dolores H. Pretorius

    出版 2017
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  2. 2
    Mandatory Influenza Vaccination of Health Care Workers: Translating Policy to Practice

    Mandatory Influenza Vaccination of Health Care Workers: Translating Policy to Practice 由 Hilary M. Babcock, Nancy Gemeinhart, Marilyn C. Jones, W. Claiborne Dunagan, Keith F. Woeltje

    出版 2010
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  3. 3
    Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases

    Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases 由 David Bick, Marilyn C. Jones, Stacie L. Taylor, Ryan J. Taft, John W. Belmont

    出版 2019
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  4. 4
    Influenza Vaccination among Healthcare Workers: Ten-Year Experience of a Large Healthcare Organization

    Influenza Vaccination among Healthcare Workers: Ten-Year Experience of a Large Healthcare Organization 由 M. Cristina Ajenjo, Keith F. Woeltje, Hilary M. Babcock, Nancy Gemeinhart, Marilyn C. Jones, Victoria J. Fraser

    出版 2010
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  5. 5
    Health Supervision for Children With Marfan Syndrome

    Health Supervision for Children With Marfan Syndrome 由 Brad T. Tinkle, Howard M. Saal, Robert A. Saul, Stephen R. Braddock, Emily Chen, Debra Freedenberg, Marilyn C. Jones, James M. Perrin, Beth A. Tarini

    出版 2013
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  6. 6
    Monodactylous Limbs and Abnormal Genitalia Are Associated with Hemizygosity for the Human 2q31 Region That Includes the HOXD Cluster

    Monodactylous Limbs and Abnormal Genitalia Are Associated with Hemizygosity for the Human 2q31 Region That Includes the HOXD Cluster 由 Miguel Del Campo, Marilyn C. Jones, Alexey Veraksa, Cindy J. Curry, Kenneth L. Jones, James T. Mascarello, Zohra Ali-Kahn-Catts, Timothy Drumheller, William McGinnis

    出版 1999
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  7. 7
    Comprehensive Evaluation of the Child With Intellectual Disability or Global Developmental Delays

    Comprehensive Evaluation of the Child With Intellectual Disability or Global Developmental Delays 由 John B. Moeschler, Michael Shevell, John B. Moeschler, Michael Shevell, Robert A. Saul, Emily Chen, Debra Freedenberg, Rizwan Hamid, Marilyn C. Jones, Joan M. Stoler, Beth A. Tarini

    出版 2014
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  8. 8
    Health Supervision for People With Achondroplasia

    Health Supervision for People With Achondroplasia 由 Julie Hoover‐Fong, Charles I. Scott, Marilyn C. Jones, Emily Chen, Tracy L. Trotter, Susan A. Berry, Leah W. Burke, Timothy A. Geleske, Rizwan Hamid, Robert J. Hopkin, Wendy J. Introne, Michael J. Lyons, Angela E. Scheuerle, Joan M. Stoler

    出版 2020
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  9. 9
    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 由 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

    出版 2018
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  10. 10
    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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  11. 11
    Outbreak of Adverse Reactions Associated with Contaminated Heparin

    Outbreak of Adverse Reactions Associated with Contaminated Heparin 由 David B. Blossom, Alexander J. Kallen, Priti R. Patel, Alexis Elward, Luke N. Robinson, Gan‐Pan Gao, Róbert Langer, Kiran M. Perkins, Jennifer L. Jaeger, Katie Kurkjian, Marilyn C. Jones, Sarah Schillie, Nadine Shehab, Daniel Ketterer, Ganesh Venkataraman, Takashi Kishimoto, Zachary Shriver, Ann McMahon, K. Frank Austen, Steven Kozlowski, Arjun Srinivasan, George Turabelidze, Carolyn V. Gould, Matthew J. Arduino, Ram Sasisekharan

    出版 2008
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  12. 12
    A Recurrent Mosaic Mutation in SMO , Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome

    A Recurrent Mosaic Mutation in SMO , Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome 由 Stephen R.F. Twigg, Robert B. Hufnagel, Kerry A. Miller, Yan Zhou, Simon J. McGowan, John Taylor, Jude Craft, Jenny C. Taylor, Stephanie L. Santoro, Taosheng Huang, Robert J. Hopkin, Angela F. Brady, Jill Clayton‐Smith, Carol L. Clericuzio, Dorothy K. Grange, Leopold Groesser, Christian Hafner, Denise Horn, I. Karen Temple, William B. Dobyns, Cynthia J. Curry, Marilyn C. Jones, Andrew O.M. Wilkie

    出版 2016
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  13. 13
    FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate

    FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate 由 Lina M. Moreno, M. Adela Mansilla, Steve A. Bullard, Margaret E. Cooper, Tamara Busch, Junichiro Machida, Marla Johnson, David G. Brauer, Katherine N. Krahn, Sandra Daack‐Hirsch, Jamie L’Heureux, Consuelo Valencia-Ramírez, Dora Rivera, Ana María Torres López, Manuel Moreno, Anne Hing, Edward J. Lammer, Marilyn C. Jones, Kaare Christensen, Rolv T. Lie, Astanand Jugessur, Allen J. Wilcox, Peter S. Chines, Elizabeth Pugh, Kim Doheny, Mauricio Arcos‐Burgos, Mary L. Marazita, Jeffrey C. Murray, Andrew C. Lidral

    出版 2009
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  14. 14
    Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations

    Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations 由 Joel J. Hughes, Ebba Alkhunaizi, Paul Kruszka, Louise C. Pyle, Dorothy K. Grange, Seth Berger, Katelyn Payne, Diane Masser‐Frye, Tommy Hu, Michelle R. Christie, Nancy J. Clegg, Joshua L. Everson, Ariel F. Martinez, Laurence E. Walsh, Emma Bedoukian, Marilyn C. Jones, Catharine Harris, Korbinian M. Riedhammer, Daniela Choukair, Patricia Y. Fechner, Meilan M. Rutter, Sophia B. Hufnagel, Maian Roifman, Gad B. Kletter, Emmanuèle C. Délot, Éric Vilain, Robert J. Lipinski, Chad M. Vezina, Maximilian Muenke, David Chitayat

    出版 2019
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  15. 15
    Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico

    Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico 由 Alicia Scocchia, Kristen Wigby, Diane Masser‐Frye, Miguel Del Campo, Carolina I. Galarreta, Erin Thorpe, Julia McEachern, Keisha Robinson, Andrew M. Gross, Maren Bennett, Krista Bluske, Carolyn M. Brown, Amanda Buchanan, Brendan Burns, Nicole Burns, Anjana Chandrasekhar, Aditi Chawla, Amanda Clause, Alison J. Coffey, María Laura Cremona, Vlad Gainullin, R. Tanner Hagelstrom, Alka Malhotra, M. Naresh Kumar. K. Rajan, Revathi Rajkumar, Sarah Schmidt, Subramanian S. Ajay, Vani Rajan, Denise Perry, John W. Belmont, David Bentley, Marilyn C. Jones, Ryan J. Taft

    出版 2019
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  16. 16
    Haploinsufficiency of<i>SOX5</i>at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

    Haploinsufficiency of<i>SOX5</i>at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features 由 Allen N. Lamb, Jill A. Rosenfeld, Nicholas J. Neill, Michael E. Talkowski, Ian Blumenthal, Santhosh Girirajan, Debra Keelean-Fuller, Zheng Fan, Jill Pouncey, Cathy A. Stevens, Loren Mackay-Loder, Deborah Terespolsky, Patricia I. Bader, Kenneth N. Rosenbaum, Stephanie E. Vallee, John B. Moeschler, Roger L. Ladda, Susan L. Sell, Judith A. Martin, S. Noyce Ryan, Marilyn C. Jones, Rocio Moran, Amy Shealy, Suneeta Madan‐Khetarpal, Juliann McConnell, Urvashi Surti, Andrée Delahaye‐Duriez, Bénédicte Héron‐Longe, Eva Pipiras, Brigitte Benzacken, Sandrine Passemard, Alain Verloès, Bertrand Isidor, Cédric Le Caignec, Gwen M. Glew, Kent E. Opheim, Maria Descartes, Evan E. Eichler, Cynthia C. Morton, James F. Gusella, Roger A. Schultz, Blake C. Ballif, Lisa G. Shaffer

    出版 2012
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  17. 17
    Mutation update for the <i>SATB2</i> gene

    Mutation update for the <i>SATB2</i> gene 由 Yuri A. Zárate, Katherine A. Bosanko, Aislling R. Caffrey, Jonathan A. Bernstein, Donna M. Martin, Marc S. Williams, Elizabeth Berry‐Kravis, Paul R. Mark, Melanie A. Manning, Vikas Bhambhani, Marcelo Alves Vargas, Andrea Seeley, Juvianee Estrada‐Veras, Marieke F. van Dooren, Maria Schwab, Adeline Vanderver, Daniela Melis, Adnan Alsadah, Laurie S. Sadler, Hilde Van Esch, Bert Callewaert, Ann Oostra, Jane MacLean, Maria Lisa Dentici, Valeria Orlando, Mark Lipson, Steven Sparagana, Timothy J. Maarup, Suzanne Alsters, Ariel Brautbar, Eliana Kovitch Thropp, Sakkubai Naidu, Melissa Lees, Douglas M. Smith, Lesley Turner, Víctor Raggio, Lucía Spangenberg, Sixto García‐Miñaúr, Elizabeth Roeder, Rebecca O. Littlejohn, Dorothy K. Grange, Jean P. Pfotenhauer, Marilyn C. Jones, Meena Balasubramanian, Antonio Federico Martínez‐Monseny, Lot Snijders Blok, Ralitza Gavrilova, Jennifer L. Fish

    出版 2019
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  18. 18
    Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

    Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies 由 Michael D. Fountain, David S. Oleson, Megan Rech, Lara Segebrecht, Jill V. Hunter, John McCarthy, Philip J. Lupo, Manuel Holtgrewe, Rocio Moran, Jill A. Rosenfeld, Bertrand Isidor, Cédric Le Caignec, Margarita Sáenz, Robert C. Pedersen, Thomas M. Morgan, Jean P. Pfotenhauer, Fan Xia, Weimin Bi, Sung-Hae L. Kang, Ankita Patel, Ian D. Krantz, Sarah E. Raible, Wendy E. Smith, Ingrid Cristian, Erin Torti, Jane Juusola, Francisca Millan, Ingrid M. Wentzensen, Richard Person, Sébastien Küry, Stéphane Bézieau, Kévin Uguen, Claude Férec, Arnold Münnich, Mieke M. van Haelst, Klaske D. Lichtenbelt, Koen L.I. van Gassen, Tanner Hagelstrom, Aditi Chawla, Denise Perry, Ryan J. Taft, Marilyn C. Jones, Diane Masser‐Frye, David A. Dyment, Sunita Venkateswaran, Chumei Li, Luis Escobar, Denise Horn, Rebecca C. Spillmann, Loren D.M. Peña, Jolanta Wierzba, Tim M. Strom, Ilaria Parenti, Frank J. Kaiser, Nadja Ehmke, Christian P. Schaaf

    出版 2019
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  19. 19
    An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm

    An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm 由 David Dimmock, Michelle M. Clark, Mary Gaughran, Julie A. Cakici, Sara Caylor, Christina Clarke, Michele Feddock, Shimul Chowdhury, Lisa Salz, Cynthia Cheung, Lynne M. Bird, Charlotte A. Hobbs, Kristen Wigby, Lauge Farnaes, Cinnamon S. Bloss, Stephen F. Kingsmore, Matthew N. Bainbridge, Jaime Barea, Serge Batalov, Zaira Bezares, Lynne M. Bird, Cinnamon S. Bloss, Joshua J.A. Braun, Julie A. Cakici, Miguel Del Campo, Jeanne Carroll, Cynthia Cheung, Casey Cohenmeyer, Nicole G. Coufal, Carlos Bustamante, Yan Ding, Katarzyna A. Ellsworth, Marva Evans, Annette Feigenbaum, Jennifer Friedman, Joe Gleeson, Christian Holm Hansen, Jose Honold, Kiely N. James, Marilyn C. Jones, Amy Kimball, G. R. Knight, Lucitia Van Der Kraan, Brian R. Lane, Jennie Le, Sandra L. Leibel, Jerica Lenberg, Dana Mashburn, Laurel Moyer, Patrick Mulrooney, Shareef Nahas, Daeheon Oh, Daniken Orendain, Albert Oriol, Maria Ortiz-Arechiga, Lawrence S. Prince, Seema Rego, Iris Reyes, Erica Sanford Kobayashi, Charles W. Sauer, Leila K. Schwanemann, Mark Speziale, Denise Suttner, Nathaly M. Sweeney, Richard Song, Mari Tokita, Narayanan Veeraraghavan, Kelly Watkins, Terence C. Wong, Meredith S. Wright, Catherine Yamada

    出版 2020
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  20. 20
    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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