Хайлтын үр дүнгүүд - David Bick

Үр дүнг сайжруулах
  1. 1
    Spontaneous transfer of monoacyl amphiphiles between lipid and protein surfaces

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

    Хэвлэсэн 1997
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    Artigo
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  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 -н AA Lemke, David Bick, David Dimmock, Pippa Simpson, Regan Veith

    Хэвлэсэн 2012
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    Artigo
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  3. 3
    Differential expression of novel Gsα signal transduction protein cDNA species

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

    Хэвлэсэн 1991
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    Artigo
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  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 -н Brett Deml, Linda M. Reis, Mohit Maheshwari, Cristin Griffis, David Bick, Elena V. Semina

    Хэвлэсэн 2014
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    Artigo
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  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 -н Jennifer Pedersen-White, Lynn P. Chorich, David Bick, Richard J. Sherins, Lawrence C. Layman

    Хэвлэсэн 2008
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    Artigo
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  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 -н David Bick, Marilyn C. Jones, Stacie L. Taylor, Ryan J. Taft, John W. Belmont

    Хэвлэсэн 2019
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    Revisão
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  7. 7
    An online compendium of treatable genetic disorders

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

    Хэвлэсэн 2020
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    Artigo
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  8. 8
    Genomic newborn screening: Are we entering a new era of screening?

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

    Хэвлэсэн 2023
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    Revisão
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  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 -н Balasubramanian Bhagavath, Robert H. Podolsky, Metin Özata, Erol Bolu, David Bick, Anita S. Kulharya, Richard J. Sherins, Lawrence C. Layman

    Хэвлэсэн 2006
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    Artigo
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  10. 10
    A timely arrival for genomic medicine

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

    Хэвлэсэн 2010
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    Carta
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  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 -н Samuel D. Quaynor, Hyung‐Goo Kim, Elizabeth M. Cappello, Tiera Williams, Lynn P. Chorich, David Bick, Richard J. Sherins, Lawrence C. Layman

    Хэвлэсэн 2011
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    Artigo
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  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 -н David Bick, Brunella Franco, Richard J. Sherins, Babette Heye, Lisa Pike, John M. Crawford, Anne Maddalena, Barbara Incerti, Antonella Pragliola, Thomas Meitinger, Andrea Ballabio

    Хэвлэсэн 1992
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    Artigo
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  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. -н 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

    Хэвлэсэн 1989
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    Artigo
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  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... -н 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

    Хэвлэсэн 2021
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    Artigo
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  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 -н 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

    Хэвлэсэн 2020
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    Artigo
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  16. 16
    Newborn Screening by Genomic Sequencing: Opportunities and Challenges

    Newborn Screening by Genomic Sequencing: Opportunities and Challenges -н 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

    Хэвлэсэн 2022
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    Artigo
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  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... -н 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

    Хэвлэсэн 2015
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    Artigo
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  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 -н 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

    Хэвлэсэн 2022
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    Artigo
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  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 -н 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

    Хэвлэсэн 2013
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    Artigo
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  20. 20
    Clinical utility of genomic sequencing: a measurement toolkit

    Clinical utility of genomic sequencing: a measurement toolkit -н 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

    Хэвлэсэн 2020
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    Revisão
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