Sökresultat - Margaret P Adam

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  1. 1
    A homozygous<i>B3GAT3</i>mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes

    A homozygous<i>B3GAT3</i>mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes av Kelly L. Jones, Ulrike Schwarze, Margaret P Adam, Peter H. Byers, Heather C. Mefford

    Publicerad 2015
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  2. 2
    Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p

    Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p av Xueya Hauge, Gordana Raca, S. F. Cooper, Kristin M. May, Rhonda Spiro, Margaret P Adam, Alastair J. Martin

    Publicerad 2008
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  3. 3
    From Genotype to Phenotype—A Review of Kabuki Syndrome

    From Genotype to Phenotype—A Review of Kabuki Syndrome av Kelly K. Barry, Michaelangelo Tsaparlis, Deborah Hoffman, Deborah Hartman, Margaret P Adam, Christina Hung, Olaf A. Bodamer

    Publicerad 2022
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  4. 4
    Segmental duplications mediate novel, clinically relevant chromosome rearrangements

    Segmental duplications mediate novel, clinically relevant chromosome rearrangements av M. Katharine Rudd, Julia A. Keene, Brian Bunke, Erin B. Kaminsky, Margaret P Adam, Jennifer G. Mullé, David H. Ledbetter, Alastair J. Martin

    Publicerad 2009
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  5. 5
    Birth outcomes in women who have taken adalimumab in pregnancy: A prospective cohort study

    Birth outcomes in women who have taken adalimumab in pregnancy: A prospective cohort study av Christina Chambers, Diana L. Johnson, Ronghui Xu, Yunjun Luo, Janina Lopez-Jimenez, Margaret P Adam, Stephen R. Braddock, Luther K. Robinson, Keith K. Vaux, Kenneth Lyons Jones

    Publicerad 2019
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  6. 6
    Fetal Alcohol Spectrum Disorders in a Pacific Southwest City: Maternal and Child Characteristics

    Fetal Alcohol Spectrum Disorders in a Pacific Southwest City: Maternal and Child Characteristics av Christina Chambers, Claire D. Coles, Julie A. Kable, Natacha Akshoomoff, Ronghui Xu, Jennifer A. Zellner, Gordon Honerkamp‐Smith, Melanie A. Manning, Margaret P Adam, Kenneth Lyons Jones

    Publicerad 2019
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  7. 7
    Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity

    Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity av Gisele E. Ishak, Jennifer C. Dempsey, Dennis Shaw, Hannah M. Tully, Margaret P Adam, Pedro A. Sanchez‐Lara, Ian Glass, Tessa Rue, Kathleen J. Millen, William B. Dobyns, Dan Doherty

    Publicerad 2012
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  8. 8
    Clinical features and management issues in Mowat–Wilson syndrome

    Clinical features and management issues in Mowat–Wilson syndrome av Margaret P Adam, Susan Schelley, Renata C. Gallagher, April N. Brady, Kimberly Barr, Bruce Blumberg, Joseph T.C. Shieh, John M. Graham, Anne Slavotinek, Madelena Martin, Kim M. Keppler‐Noreuil, Andrea L. Storm, Louanne Hudgins

    Publicerad 2006
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  9. 9
    Prevalence and Characteristics of Fetal Alcohol Spectrum Disorders

    Prevalence and Characteristics of Fetal Alcohol Spectrum Disorders av Philip A. May, Amy Baete, Jaymi Russo, Amy Elliott, Jason Blankenship, Wendy O. Kalberg, David Buckley, Marita Brooks, Julie M. Hasken, Omar Abdul‐Rahman, Margaret P Adam, Luther K. Robinson, Melanie Manning, H. Eugene Hoyme

    Publicerad 2014
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  10. 10
    A Common Molecular Mechanism Underlies Two Phenotypically Distinct 17p13.1 Microdeletion Syndromes

    A Common Molecular Mechanism Underlies Two Phenotypically Distinct 17p13.1 Microdeletion Syndromes av Adam Shlien, Berivan Baskin, Maria Isabel Achatz, Dimitrios J. Stavropoulos, Kim E. Nichols, Louanne Hudgins, Chantal F. Morel, Margaret P Adam, Nataliya Zhukova, Lianne E. Rotin, Ana Novokmet, Harriet Druker, Mary Shago, Peter N. Ray, Pierre Hainaut, David Malkin

    Publicerad 2010
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  11. 11
    Replication of High Fetal Alcohol Spectrum Disorders Prevalence Rates, Child Characteristics, and Maternal Risk Factors in a Second Sample of Rural Communities in South Africa

    Replication of High Fetal Alcohol Spectrum Disorders Prevalence Rates, Child Characteristics, and Maternal Risk Factors in a Second Sample of Rural Communities in South Africa av Philip A. May, Marlene de Vries, Anna-Susan Marais, Wendy O. Kalberg, David Buckley, Colleen M. Adnams, Julie M. Hasken, Barbara G. Tabachnick, Luther K. Robinson, Melanie Manning, Heidre Bezuidenhout, Margaret P Adam, Kenneth Lyons Jones, Soraya Seedat, Charles Parry, H. Eugene Hoyme

    Publicerad 2017
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  12. 12
    Fetal Alcohol Spectrum Disorders in a Midwestern City: Child Characteristics, Maternal Risk Traits, and Prevalence

    Fetal Alcohol Spectrum Disorders in a Midwestern City: Child Characteristics, Maternal Risk Traits, and Prevalence av Philip A. May, Julie M. Hasken, Amy Baete, Jaymi Russo, Amy Elliott, Wendy O. Kalberg, David Buckley, Marita Brooks, Marian A. Ortega, Dixie M. Hedrick, Barbara G. Tabachnick, Omar Abdul‐Rahman, Margaret P Adam, Tamison Jewett, Luther K. Robinson, Melanie A. Manning, H. Eugene Hoyme

    Publicerad 2020
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  13. 13
    Fetal Alcohol Spectrum Disorders in a Rocky Mountain Region City: Child Characteristics, Maternal Risk Traits, and Prevalence

    Fetal Alcohol Spectrum Disorders in a Rocky Mountain Region City: Child Characteristics, Maternal Risk Traits, and Prevalence av Philip A. May, Julie M. Hasken, Rosemary Bozeman, Jo‐Viviane Jones, Mary Kay Burns, Joelene Goodover, Wendy O. Kalberg, David Buckley, Marita Brooks, Marian A. Ortega, Amy Elliott, Dixie M. Hedrick, Barbara G. Tabachnick, Omar Abdul‐Rahman, Margaret P Adam, Tamison Jewett, Luther K. Robinson, Melanie A. Manning, H. Eugene Hoyme

    Publicerad 2020
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  14. 14
    The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children

    The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children av Amanda S. Freed, Sarah V. Clowes Candadai, Megan Sikes, Jenny Thies, Heather M. Byers, Jennifer N. Dines, Mesaki Kenneth Ndugga-Kabuye, Mallory B. Smith, Katie Fogus, Heather C. Mefford, Christina Lam, Margaret P Adam, Angela Sun, John K. McGuire, Robert DiGeronimo, Katrina M. Dipple, Gail Deutsch, Zeenia Billimoria, James T. Bennett

    Publicerad 2020
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  15. 15
    Exome Sequencing for the Diagnosis of 46,XY Disorders of Sex Development

    Exome Sequencing for the Diagnosis of 46,XY Disorders of Sex Development av Ruth M. Baxter, Valerie A. Arboleda, Hane Lee, Hayk Barseghyan, Margaret P Adam, Patricia Y. Fechner, Renee Bargman, Catherine E. Keegan, Sharon Travers, Susan Schelley, Louanne Hudgins, Revi P. Mathew, Heather J. Stalker, Roberto Zori, Ora Gordon, Leigh Ramos‐Platt, Anna Pawlikowska‐Haddal, Ascia Eskin, Stanley F. Nelson, Emmanuèle C. Délot, Éric Vilain

    Publicerad 2014
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  16. 16
    Updated Clinical Guidelines for Diagnosing Fetal Alcohol Spectrum Disorders

    Updated Clinical Guidelines for Diagnosing Fetal Alcohol Spectrum Disorders av H. Eugene Hoyme, Wendy O. Kalberg, Amy Elliott, Jason Blankenship, David Buckley, Anna-Susan Marais, Melanie A. Manning, Luther K. Robinson, Margaret P Adam, Omar Abdul‐Rahman, Tamison Jewett, Claire D. Coles, Christina Chambers, Kenneth Lyons Jones, Colleen M. Adnams, Prachi Shah, Edward P. Riley, Michael E. Charness, Kenneth R. Warren, Philip A. May

    Publicerad 2016
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  17. 17
    Genetics of Disorders of Sex Development

    Genetics of Disorders of Sex Development av Emmanuèle C. Délot, Jeanette C. Papp, David E. Sandberg, Éric Vilain, Emmanuèle C. Délot, Michelle Fox, Wayne W. Grody, Hane Lee, Jeanette C. Papp, Éric Vilain, Catherine E. Keegan, Linda Ramsdell, Janet Green, Hayk Barseghyan, Naghmeh Dorrani, Lauren Mohnach, Margaret A. Pearson, Jullianne Diaz, Eyby Leon, Robert J. Hopkin, Jodie Johnson, Howard M. Saal, Ina Amarillo, Margaret P Adam

    Publicerad 2017
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  18. 18
    GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome

    GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome av Amy Lacroix, Deborah L. Stabley, Rebecca Sahraoui, Margaret P Adam, Michele G. Mehaffey, Kelly Kernan, Candace T. Myers, Carrie Fagerstrom, George Anadiotis, Yassmine Akkari, Katherine Robbins, Karen W. Gripp, Wagner Antonio da Rosa Baratela, Michael B. Bober, Angela L. Duker, Dan Doherty, Jennifer C. Dempsey, Daniel G. Miller, Martin Kircher, Michael J. Bamshad, Deborah A. Nickerson, Heather C. Mefford, Katia Sol‐Church

    Publicerad 2018
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  19. 19
    Identification of a Recurrent Microdeletion at 17q23.1q23.2 Flanked by Segmental Duplications Associated with Heart Defects and Limb Abnormalities

    Identification of a Recurrent Microdeletion at 17q23.1q23.2 Flanked by Segmental Duplications Associated with Heart Defects and Limb Abnormalities av Blake C. Ballif, Aaron Theisen, Jill A. Rosenfeld, Ryan N. Traylor, Julie M. Gastier‐Foster, Devon Lamb Thrush, Caroline Astbury, Dennis Bartholomew, Kim L. McBride, Robert E. Pyatt, Kate Shane-Carson, Wendy E. Smith, Valerie Banks, William Gallentine, Pamela Brock, M. Katharine Rudd, Margaret P Adam, Julia A. Keene, John A. Phillips, Jean P. Pfotenhauer, Gordon C. Gowans, Paweł Stankiewicz, Bassem A. Bejjani, Lisa G. Shaffer

    Publicerad 2010
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  20. 20
    Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype

    Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype av Tjitske Kleefstra, W. A. van Zelst‐Stams, Willy M. Nillesen, Valérie Cormier‐Daire, Gunnar Houge, Nicki Foulds, Marieke van Dooren, Marjolein H. Willemsen, Rolph Pfundt, Anne‐Marie W. Turner, Meredith Wilson, Julie McGaughran, Anita Rauch, Martin Zenker, Margaret P Adam, A. Micheil Innes, C. Davies, Antonio González-Meneses López, Rosario Casalone, Astrid Weber, L A Brueton, Alain Navarro, María Palomares‐Bralo, Hanka Venselaar, Alexander P.A. Stegmann, Helger G. Yntema, Hans van Bokhoven, Han G. Brunner

    Publicerad 2009
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