检索结果 - Susan E. Waisbren

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  1. 1
    Improving long term outcomes in urea cycle disorders‐report from the Urea Cycle Disorders Consortium

    Improving long term outcomes in urea cycle disorders‐report from the Urea Cycle Disorders Consortium 由 Susan E. Waisbren, Andrea Gropman, Mark L. Batshaw

    出版 2016
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  2. 2
    Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: An examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms

    Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: An examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clini... 由 Susan E. Waisbren, Harvey L. Levy, Michael S. Noble, Dietrich Matern, N. Gregersen, K. Pasley, Deborah Marsden

    出版 2008
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  3. 3
    Parents are interested in newborn genomic testing during the early postpartum period

    Parents are interested in newborn genomic testing during the early postpartum period 由 Susan E. Waisbren, Danielle K. Bäck, Christina Liu, Sarah S. Kalia, Steven A. Ringer, Ingrid A. Holm, Robert C. Green

    出版 2014
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  4. 4
    Mid-Gestational Maternal Free Thyroxine Concentration and Offspring Neurocognitive Development at Age Two Years

    Mid-Gestational Maternal Free Thyroxine Concentration and Offspring Neurocognitive Development at Age Two Years 由 Wendy Y. Craig, Walter C. Allan, Edward M. Kloza, Andrea J. Pulkkinen, Susan E. Waisbren, Daniel Spratt, Glenn E. Palomaki, Louis M. Neveux, James E. Haddow

    出版 2011
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  5. 5
    Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype–phenotype correlations

    Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype–phenotype correlations 由 Trilochan Sahoo, Carlos A. Bacino, Jennifer R. German, Chad A. Shaw, Lynne M. Bird, Virginia Kimonis, Irinia Anselm, Susan E. Waisbren, Arthur L. Beaudet, Sarika U. Peters

    出版 2007
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  6. 6
    Prevalence of comorbid conditions among adult patients diagnosed with phenylketonuria

    Prevalence of comorbid conditions among adult patients diagnosed with phenylketonuria 由 Barbara K. Burton, Kyle Bradford Jones, Stephen D. Cederbaum, Fran Rohr, Susan E. Waisbren, Debra E. Irwin, Gilwan Kim, Joshua Lilienstein, Ignacio Alvarez, Elaina Jurecki, Harvey L. Levy

    出版 2018
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  7. 7
    Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations

    Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations 由 Jeffrey M. Chinsky, Rani H. Singh, Can Fıçıcıoğlu, Clara van Karnebeek, Markus Grompe, Grant A. Mitchell, Susan E. Waisbren, Müge Güçsavaş‐Çalıkoğlu, Melissa Wasserstein, Kathryn E. Coakley, C. Ronald Scott

    出版 2017
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  8. 8
    Maternal Thyroid Deficiency during Pregnancy and Subsequent Neuropsychological Development of the Child

    Maternal Thyroid Deficiency during Pregnancy and Subsequent Neuropsychological Development of the Child 由 James E. Haddow, Glenn E. Palomaki, Walter C. Allan, Josephine Williams, George J. Knight, June Gagnon, Cheryl E. O’Heir, Marvin L. Mitchell, Rosalie J. Hermos, Susan E. Waisbren, James D. Faix, Robert Z. Klein

    出版 1999
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  9. 9
    A Neurodevelopmental Survey of Angelman Syndrome With Genotype-Phenotype Correlations

    A Neurodevelopmental Survey of Angelman Syndrome With Genotype-Phenotype Correlations 由 Jennifer Gentile, Wen‐Hann Tan, Lucia T. Horowitz, Carlos A. Bacino, Steven A. Skinner, Rene Barbieri‐Welge, Astrid Bauer‐Carlin, Arthur L. Beaudet, Terry Jo Bichell, Hye‐Seung Lee, Trilochan Sahoo, Susan E. Waisbren, Lynne M. Bird, Sarika U. Peters

    出版 2010
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  10. 10
    A therapeutic trial of pro‐methylation dietary supplements in Angelman syndrome

    A therapeutic trial of pro‐methylation dietary supplements in Angelman syndrome 由 Lynne M. Bird, Wen‐Hann Tan, Carlos A. Bacino, Sarika U. Peters, Steven A. Skinner, Irina Anselm, Rene Barbieri‐Welge, Astrid Bauer‐Carlin, Jennifer Gentile, Daniel G. Glaze, Lucia T. Horowitz, Kriti Mohan, Mark Nespeca, Trilochan Sahoo, Dean Sarco, Susan E. Waisbren, Arthur L. Beaudet

    出版 2011
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  11. 11
    Angelman syndrome: Mutations influence features in early childhood

    Angelman syndrome: Mutations influence features in early childhood 由 Wen‐Hann Tan, Carlos A. Bacino, Steven A. Skinner, Irina Anselm, Rene Barbieri‐Welge, Astrid Bauer‐Carlin, Arthur L. Beaudet, Terry Jo Bichell, Jennifer Gentile, Daniel G. Glaze, Lucia T. Horowitz, Sanjeev V. Kothare, Hye‐Seung Lee, Mark Nespeca, Sarika U. Peters, Trilochan Sahoo, Dean Sarco, Susan E. Waisbren, Lynne M. Bird

    出版 2010
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  12. 12
    Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes

    Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes 由 Patricia Jumbo‐Lucioni, Kathryn B. Garber, John Kiel, Ivo Barić, Gerard T. Berry, Annet M. Bosch, Alberto Burlina, Ana Chiesa, María L. Couce, Sylvia C. Estrada, Howard Henderson, Nancy Leslie, Nicola Longo, Andrew A. M. Morris, Carlett Ramirez‐Farias, Susanne Scheweitzer‐Krantz, Catherine Lynn T. Silao, Marcela Vela‐Amieva, Susan E. Waisbren, Judith L. Fridovich‐Keil

    出版 2012
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  13. 13
    The BabySeq project: implementing genomic sequencing in newborns

    The BabySeq project: implementing genomic sequencing in newborns 由 Ingrid A. Holm, Pankaj B. Agrawal, Ozge Ceyhan‐Birsoy, Kurt D. Christensen, Shawn Fayer, Leslie A. Frankel, Casie A. Genetti, Joel B. Krier, Rebecca C. LaMay, Harvey L. Levy, Amy L. McGuire, Richard B. Parad, Peter J. Park, Stacey Pereira, Heidi L. Rehm, Talia S. Schwartz, Susan E. Waisbren, Timothy W. Yu, Robert C. Green, Alan H. Beggs

    出版 2018
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  14. 14
    International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow‐up

    International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow‐up 由 Lindsey Welling, Laurie Bernstein, Gerard T. Berry, Alberto Burlina, François Eyskens, Matthias Gautschi, Stephanie Grünewald, Cynthia S. Gubbels, Ina Knerr, Philippe Labrune, Johanna H. van der Lee, Anita MacDonald, Elaine Murphy, P. A. Portnoi, Katrin Õunap, Nancy L. Potter, M. Estela Rubio‐Gozalbo, Jessica B. Spencer, Inge Timmers, Eileen P. Treacy, Sandra C. Van Calcar, Susan E. Waisbren, Annet M. Bosch

    出版 2016
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  15. 15
    Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium

    Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium 由 Jennifer Seminara, Mendel Tuchman, Lauren Krivitzky, Jeffrey P. Krischer, Hye Seung Lee, Cynthia LeMons, Matthias R. Baumgartner, Stephen Cederbaum, George A. Díaz, Annette Feigenbaum, Renata C. Gallagher, Cary O. Harding, Douglas S. Kerr, Brendan C. Lanpher, Brendan Lee, Uta Lichter‐Konecki, Shawn E. McCandless, J. Lawrence Merritt, Mary Lou Oster‐Granite, Margretta R. Seashore, Tamar Stricker, Marshall Summar, Susan E. Waisbren, Marc Yudkoff, Mark L. Batshaw

    出版 2010
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  16. 16
    Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project

    Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project 由 Casie A. Genetti, Talia S. Schwartz, Jill O. Robinson, Grace E. VanNoy, Devan Petersen, Stacey Pereira, Shawn Fayer, Hayley A. Peoples, Pankaj B. Agrawal, Wendi N. Betting, Ingrid A. Holm, Amy L. McGuire, Susan E. Waisbren, Timothy W. Yu, Robert C. Green, Alan H. Beggs, Richard B. Parad, Pankaj B. Agrawal, Alan H. Beggs, Wendi N. Betting, Ozge Ceyhan‐Birsoy, Kurt D. Christensen, Dmitry Dukhovny, Shawn Fayer, Leslie A. Frankel, Casie A. Genetti, Chet Graham, Robert C. Green, Amanda M. Gutierrez, Maegan Harden, Ingrid A. Holm, Joel B. Krier, Matthew S. Lebo, Harvey L. Levy, Xingquan Lu, Kalotina Machini, Amy L. McGuire, Jaclyn B. Murry, Medha Naik, Tiffany Nguyen, Richard B. Parad, Hayley A. Peoples, Stacey Pereira, Devan Petersen, Uma Ramamurthy, Vivek Ramanathan, Heidi L. Rehm, Amy E. Roberts, Jill O. Robinson, S. A. Roumiantsev, Talia S. Schwartz, Tina K. Truong, Grace E. VanNoy, Susan E. Waisbren, Timothy W. Yu

    出版 2018
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  17. 17
    Psychosocial Effect of Newborn Genomic Sequencing on Families in the BabySeq Project

    Psychosocial Effect of Newborn Genomic Sequencing on Families in the BabySeq Project 由 Stacey Pereira, Hadley Stevens Smith, Leslie A. Frankel, Kurt D. Christensen, Rubaiya Islam, Jill O. Robinson, Casie A. Genetti, Carrie L. Blout Zawatsky, Bethany Zettler, Richard B. Parad, Susan E. Waisbren, Alan H. Beggs, Robert C. Green, Ingrid A. Holm, Amy L. McGuire, Pankaj B. Agrawal, Alan H. Beggs, Wendi N. Betting, Ozge Ceyhan‐Birsoy, Kurt D. Christensen, Dmitry Dukhovny, Shawn Fayer, Leslie A. Frankel, Casie A. Genetti, Chet Graham, Robert C. Green, Amanda M. Gutierrez, Maegan Harden, Ingrid A. Holm, Joel B. Krier, Matthew S. Lebo, Kaitlyn B. Lee, Harvey L. Levy, Xingquan Lu, Kalotina Machini, Amy L. McGuire, Jaclyn B. Murry, Medha Naik, Tiffany T. Nguyen Dolphyn, Richard B. Parad, Hayley A. Peoples, Stacey Pereira, Devan Petersen, Uma Ramamurthy, Vivek Ramanathan, Heidi L. Rehm, Amy E. Roberts, Jill O. Robinson, S. A. Roumiantsev, Talia S. Schwartz, Hadley Stevens Smith, Tina K. Truong, Grace E. VanNoy, Susan E. Waisbren, Timothy W. Yu, Carrie L. Blout Zawatsky, Bethany Zettler

    出版 2021
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  18. 18
    20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits

    20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits 由 Seema R. Lalani, Joseph V. Thakuria, Gerald F. Cox, X. Wang, Weimin Bi, Molly S. Bray, Chad A. Shaw, Sau Wai Cheung, A. Craig Chinault, Barbara A. Boggs, Zhishuo Ou, Ellen K. Brundage, James R. Lupski, Jennifer Gentile, Susan E. Waisbren, Amber N. Pursley, Ling Ma, Mehrdad Khajavi, Gladys Zapata, Richard A. Friedman, J J Kim, Jeffrey A. Towbin, Paweł Stankiewicz, Susanne Schnittger, I. Hansmann, Tomohiko Ai, Subeena Sood, Xander H.T. Wehrens, James F. Martin, John W. Belmont, Lorraine Potocki

    出版 2008
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  19. 19
    The adult galactosemic phenotype

    The adult galactosemic phenotype 由 Susan E. Waisbren, Nancy L. Potter, Catherine M. Gordon, Robert C. Green, Patricia Greenstein, Cynthia S. Gubbels, M. Estela Rubio‐Gozalbo, Donald L. Schomer, Corrine K. Welt, Vera Anastasoaie, Kali D'Anna, Jennifer Gentile, Chao‐Yu Guo, Leah Hecht, Roberta Jackson, Bernadette M. Jansma, Yijun Li, Va Lip, David T. Miller, Michael F. Murray, Leslie Power, Nicolle Quinn, Frances Rohr, Yiping Shen, Amy E. Skinder‐Meredith, Inge Timmers, Rachel A. Tunick, Ann Wessel, Bai‐Lin Wu, Harvey L. Levy, Louis J. Elsas, Gerard T. Berry

    出版 2011
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  20. 20
    Brain function in classic galactosemia, a galactosemia network (GalNet) members review

    Brain function in classic galactosemia, a galactosemia network (GalNet) members review 由 Bianca Panis, E. Naomi Vos, Ivo Barić, Annet M. Bosch, Martijn C.G.J. Brouwers, Alberto Burlina, David Cassiman, David Coman, María L. Couce, Anibh M. Das, Didem Demirbas, Aurélie Empain, Matthias Gautschi, Olga Grafakou, Stephanie Grünewald, Sandra D.K. Kingma, Ina Knerr, Elisa Leão Teles, Dorothea Möslinger, Elaine Murphy, Katrin Õunap, Adriana Pané, Sabrina Paci, Rossella Parini, Isabel Rivera, Sabine Scholl‐Bürgi, Ida Vanessa Döederlein Schwartz, Triantafyllia Sdogou, Loai A. Shakerdi, Anastasia Skouma, Karolina M. Stępień, Eileen P. Treacy, Susan E. Waisbren, Gerard T. Berry, M. Estela Rubio‐Gozalbo

    出版 2024
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