نتائج البحث - David Bick

تنقيح النتائج
  1. 1
    Spontaneous transfer of monoacyl amphiphiles between lipid and protein surfaces

    Spontaneous transfer of monoacyl amphiphiles between lipid and protein surfaces حسب J.B. Massey, David Bick, Henry J. Pownall

    منشور في 1997
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  2. 2
    Perspectives of clinical genetics professionals toward genome sequencing and incidental findings: a survey study

    Perspectives of clinical genetics professionals toward genome sequencing and incidental findings: a survey study حسب AA Lemke, David Bick, David Dimmock, Pippa Simpson, Regan Veith

    منشور في 2012
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  3. 3
    Differential expression of novel Gsα signal transduction protein cDNA species

    Differential expression of novel Gsα signal transduction protein cDNA species حسب Anand Swaroop, Neeraj Agarwal, Jeffrey R. Gruen, David Bick, Sherman M. Weissman

    منشور في 1991
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  4. 4
    Whole exome analysis identifies dominant <i><scp>COL4A1</scp></i> mutations in patients with complex ocular phenotypes involving microphthalmia

    Whole exome analysis identifies dominant <i><scp>COL4A1</scp></i> mutations in patients with complex ocular phenotypes involving microphthalmia حسب Brett Deml, Linda M. Reis, Mohit Maheshwari, Cristin Griffis, David Bick, Elena V. Semina

    منشور في 2014
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  5. 5
    The prevalence of intragenic deletions in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

    The prevalence of intragenic deletions in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome حسب Jennifer Pedersen-White, Lynn P. Chorich, David Bick, Richard J. Sherins, Lawrence C. Layman

    منشور في 2008
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  6. 6
    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 حسب David Bick, Marilyn C. Jones, Stacie L. Taylor, Ryan J. Taft, John W. Belmont

    منشور في 2019
    احصل على النص الكامل احصل على النص الكامل
    Revisão
    أضف إلى المفضلة
    محفوظ في:
  7. 7
    An online compendium of treatable genetic disorders

    An online compendium of treatable genetic disorders حسب David Bick, Sarah L. Bick, David Dimmock, Tom Fowler, Mark J. Caulfield, Richard H. Scott

    منشور في 2020
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  8. 8
    Genomic newborn screening: Are we entering a new era of screening?

    Genomic newborn screening: Are we entering a new era of screening? حسب Ute Spiekerkoetter, David Bick, Richard H. Scott, Henrietta Hopkins, Tanja Krones, Edith Gross, James R. Bonham

    منشور في 2023
    احصل على النص الكامل
    Revisão
    أضف إلى المفضلة
    محفوظ في:
  9. 9
    Clinical and molecular characterization of a large sample of patients with hypogonadotropic hypogonadism

    Clinical and molecular characterization of a large sample of patients with hypogonadotropic hypogonadism حسب Balasubramanian Bhagavath, Robert H. Podolsky, Metin Özata, Erol Bolu, David Bick, Anita S. Kulharya, Richard J. Sherins, Lawrence C. Layman

    منشور في 2006
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  10. 10
    A timely arrival for genomic medicine

    A timely arrival for genomic medicine حسب Alan N. Mayer, David Dimmock, Marjorie J. Arca, David Bick, James Verbsky, Elizabeth A. Worthey, Howard J. Jacob, David A. Margolis

    منشور في 2010
    احصل على النص الكامل احصل على النص الكامل
    Carta
    أضف إلى المفضلة
    محفوظ في:
  11. 11
    The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome

    The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome حسب Samuel D. Quaynor, Hyung‐Goo Kim, Elizabeth M. Cappello, Tiera Williams, Lynn P. Chorich, David Bick, Richard J. Sherins, Lawrence C. Layman

    منشور في 2011
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  12. 12
    Intragenic Deletion of the<i>KALIG-1</i>Gene in Kallmann's Syndrome

    Intragenic Deletion of the<i>KALIG-1</i>Gene in Kallmann's Syndrome حسب David Bick, Brunella Franco, Richard J. Sherins, Babette Heye, Lisa Pike, John M. Crawford, Anne Maddalena, Barbara Incerti, Antonella Pragliola, Thomas Meitinger, Andrea Ballabio

    منشور في 1992
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  13. 13
    Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome.

    Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. حسب Andrea Ballabio, Barbara Bardoni, Rosalba Carrozzo, Generoso Andria, David Bick, L. B. Campbell, Ben C.J. Hamel, M.A. Ferguson‐Smith, Giorgio Gimelli, M. Fraccaro

    منشور في 1989
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  14. 14
    Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

    Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACM... حسب Catherine Rehder, Lora Jh Bean, David Bick, Elizabeth Chao, Wendy K. Chung, Soma Das, Julianne O’Daniel, Heidi L. Rehm, Vandana Shashi, Lisa M. Vincent

    منشور في 2021
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  15. 15
    The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic

    The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic حسب Christian R. Marshall, David Bick, John W. Belmont, Stacie L. Taylor, Euan A. Ashley, David Dimmock, Vaidehi Jobanputra, Hutton M. Kearney, Shashikant Kulkarni, Heidi L. Rehm

    منشور في 2020
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  16. 16
    Newborn Screening by Genomic Sequencing: Opportunities and Challenges

    Newborn Screening by Genomic Sequencing: Opportunities and Challenges حسب David Bick, Arzoo Ahmed, Dasha Deen, Alessandra Ferlini, Nicolas Garnier, Dalia Kasperavičiūtė, Mathilde Leblond, Amanda Pichini, Augusto Rendon, Aditi Satija, Alice Tuff-Lacey, Richard H. Scott

    منشور في 2022
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  17. 17
    Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

    Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association... حسب Sue Richards, Nazneen Aziz, Sherri J. Bale, David Bick, Soma Das, Julie M. Gastier‐Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl V. Voelkerding, Heidi L. Rehm

    منشور في 2015
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  18. 18
    Developing a National Newborn Genomes Program: An Approach Driven by Ethics, Engagement and Co-design

    Developing a National Newborn Genomes Program: An Approach Driven by Ethics, Engagement and Co-design حسب Amanda Pichini, Arzoo Ahmed, Christine Patch, David Bick, Mathilde Leblond, Dalia Kasperavičiūtė, Dasha Deen, Simon A. Wilde, Sofia Garcia Noriega, Christella Matoko, Alice Tuff-Lacey, Chris Wigley, Richard H. Scott

    منشور في 2022
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  19. 19
    Novel <i><scp>B3GALTL</scp></i> mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes

    Novel <i><scp>B3GALTL</scp></i> mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes حسب Eric Weh, Linda M. Reis, Rebecca C. Tyler, David Bick, William J. Rhead, Stephanie E Wallace, Tracy L. McGregor, Shelley K. Dills, Mei Chao, J.C. Murray, Elena V. Semina

    منشور في 2013
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  20. 20
    Clinical utility of genomic sequencing: a measurement toolkit

    Clinical utility of genomic sequencing: a measurement toolkit حسب Robin Z. Hayeems, David Dimmock, David Bick, John W. Belmont, Robert C. Green, Brendan C. Lanpher, Vaidehi Jobanputra, Roberto Mendoza‐Londono, Shashi Kulkarni, Megan E. Grove, Stacie L. Taylor, Euan A. Ashley

    منشور في 2020
    احصل على النص الكامل احصل على النص الكامل
    Revisão
    أضف إلى المفضلة
    محفوظ في:

أدوات البحث: