Resultados de búsqueda - Marcia Willing

Limitar resultados
  1. 1
    Osteogenesis imperfecta: translation of mutation to phenotype.

    Osteogenesis imperfecta: translation of mutation to phenotype. por Peter H. Byers, Gillian A. Wallis, Marcia Willing

    Publicado 1991
    Enlace del recurso Enlace del recurso
    Revisão
    Agregar a favoritos
    Guardado en:
  2. 2
    Frameshift mutation near the 3' end of the COL1A1 gene of type I collagen predicts an elongated Pro alpha 1(I) chain and results in osteogenesis imperfecta type I.

    Frameshift mutation near the 3' end of the COL1A1 gene of type I collagen predicts an elongated Pro alpha 1(I) chain and results in osteogenesis imperfecta type I. por Marcia Willing, Daniel H. Cohn, Peter H. Byers

    Publicado 1990
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  3. 3
    Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfecta.

    Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfecta. por Marcia Willing, Daniel H. Cohn, B J Starman, K A Holbrook, Cheryl R. Greenberg, Peter H. Byers

    Publicado 1988
    Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  4. 4
    COL5A1 Haploinsufficiency Is a Common Molecular Mechanism Underlying the Classical Form of EDS

    COL5A1 Haploinsufficiency Is a Common Molecular Mechanism Underlying the Classical Form of EDS por Richard Wenstrup, Jane B. Florer, Marcia Willing, Cecilia Giunta, Beat Steinmann, Felix Young, Miki Susic, William G. Cole

    Publicado 2000
    Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  5. 5
    Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype

    Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype por Eline van Meel, Daniel Wegner, Paul F. Cliften, Marcia Willing, Frances V. White, Stuart Kornfeld, F. Sessions Cole

    Publicado 2013
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  6. 6
    Early Physical Activity Provides Sustained Bone Health Benefits Later in Childhood

    Early Physical Activity Provides Sustained Bone Health Benefits Later in Childhood por Kathleen F. Janz, Elena M. Letuchy, Julie M. Eichenberger Gilmore, Trudy L. Burns, James C. Torner, Marcia Willing, Steven M. Levy

    Publicado 2010
    Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  7. 7
    Mapping a Locus for Familial Thoracic Aortic Aneurysms and Dissections ( <i>TAAD2</i> ) to 3p24–25

    Mapping a Locus for Familial Thoracic Aortic Aneurysms and Dissections ( <i>TAAD2</i> ) to 3p24–25 por Sumera N. Hasham, Marcia Willing, Dong-Chuan Guo, Ann Muilenburg, Rumin He, Van T. Tran, Steven E. Scherer, Sanjay Shete, Dianna M. Milewicz

    Publicado 2003
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  8. 8
    Everyday Activity Predicts Bone Geometry in Children: The Iowa Bone Development Study

    Everyday Activity Predicts Bone Geometry in Children: The Iowa Bone Development Study por Kathleen F. Janz, Trudy L. Burns, Steven M. Levy, James C. Torner, Marcia Willing, Thomas Beck, Julie M. Eichenberger Gilmore, Teresa A. Marshall

    Publicado 2004
    Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  9. 9
    Bone Mineral Density and Its Change in White Women: Estrogen and Vitamin D Receptor Genotypes and Their Interaction

    Bone Mineral Density and Its Change in White Women: Estrogen and Vitamin D Receptor Genotypes and Their Interaction por Marcia Willing, MaryFran Sowers, David C. Aron, M. Kathleen Clark, Trudy L. Burns, Carol Bunten, Mary Crutchfield, Danielle D'Agostino, Mary Jannausch

    Publicado 1998
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  10. 10
    Sustained Effect of Early Physical Activity on Body Fat Mass in Older Children

    Sustained Effect of Early Physical Activity on Body Fat Mass in Older Children por Kathleen F. Janz, Soyang Kwon, Elena M. Letuchy, Julie M. Eichenberger Gilmore, Trudy L. Burns, James C. Torner, Marcia Willing, Steven M. Levy

    Publicado 2009
    Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  11. 11
    Genetic and Environmental Factors Associated with Dental Caries in Children: The Iowa Fluoride Study

    Genetic and Environmental Factors Associated with Dental Caries in Children: The Iowa Fluoride Study por X. Wang, Marcia Willing, Mary L. Marazita, S. Wendell, John J. Warren, Barbara Broffitt, Bruce A. Smith, Tamara Busch, Andrew C. Lidral, Steven M. Levy

    Publicado 2012
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  12. 12
    The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results

    The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results por Dustin Baldridge, Jennifer Heeley, Marisa Vineyard, Linda Manwaring, Tomi L. Toler, Emily Fassi, Elise Fiala, Sarah M. Brown, Charles W. Goss, Marcia Willing, Dorothy K. Grange, Beth A. Kozel, Marwan Shinawi

    Publicado 2017
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  13. 13
    Mutations in Transforming Growth Factor-β Receptor Type II Cause Familial Thoracic Aortic Aneurysms and Dissections

    Mutations in Transforming Growth Factor-β Receptor Type II Cause Familial Thoracic Aortic Aneurysms and Dissections por Hariyadarshi Pannu, Van Tran Fadulu, Jessica Chang, Andrea L. Lafont, Sumera N. Hasham, Elizabeth Sparks, Philip F. Giampietro, Christina Zaleski, Anthony L. Estrera, Hazim J. Safi, Sanjay Shete, Marcia Willing, C.S. Raman, Dianna M. Milewicz

    Publicado 2005
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  14. 14
    A polygenic burden of rare variants across extracellular matrix genes among individuals with adolescent idiopathic scoliosis

    A polygenic burden of rare variants across extracellular matrix genes among individuals with adolescent idiopathic scoliosis por Gabe Haller, David M. Alvarado, Kevin McCall, Ping Yang, Carlos Cruchaga, Matthew Harms, Alison Goate, Marcia Willing, José A. Morcuende, Erin E. Baschal, Nancy H. Miller, Carol A. Wise, Matthew B. Dobbs, Christina A. Gurnett

    Publicado 2015
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  15. 15
    Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females

    Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females por Jennifer Bain, Megan T. Cho, Aida Telegrafi, Ashley Wilson, Susan Sklower Brooks, Christina Botti, Gordon C. Gowans, Leigh Anne Autullo, Vidya Krishnamurthy, Marcia Willing, Tomi L. Toler, Bruria Ben-Zev, Orly Elpeleg, Yufeng Shen, Kyle Retterer, Kristin G. Monaghan, Wendy K. Chung

    Publicado 2016
    Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  16. 16
    Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome

    Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome por Jennifer Wambach, Daniel Wegner, Nivedita Patni, Martin Kircher, Marcia Willing, Dustin Baldridge, Chao Xing, Anil K. Agarwal, Samantha A. Schrier Vergano, Chirag Patel, Dorothy K. Grange, Amy Kenney, Tasnim Najaf, Deborah A. Nickerson, Michael J. Bamshad, F. Sessions Cole, Abhimanyu Garg

    Publicado 2018
    Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  17. 17
    TGFBR2 mutations alter smooth muscle cell phenotype and predispose to thoracic aortic aneurysms and dissections

    TGFBR2 mutations alter smooth muscle cell phenotype and predispose to thoracic aortic aneurysms and dissections por Sakiko Inamoto, Callie Kwartler, Andrea L. Lafont, Yao Liang, Van Tran Fadulu, Senthil Duraisamy, Marcia Willing, Anthony L. Estrera, Hazim J. Safi, Mark C. Hannibal, John C. Carey, John E. Wiktorowicz, Filemon K. Tan, Xin‐Hua Feng, Hariyadarshi Pannu, Dianna M. Milewicz

    Publicado 2010
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  18. 18
    Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis

    Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis por Jillian G. Buchan, David M. Alvarado, Gabe Haller, Carlos Cruchaga, Matthew B. Harms, Tianxiao Zhang, Marcia Willing, Dorothy K. Grange, Alan C. Braverman, Nancy H. Miller, José A. Morcuende, Nelson L.S. Tang, Tsz Ping Lam, Bobby K. W. Ng, Jack C. Y. Cheng, Matthew B. Dobbs, Christina A. Gurnett

    Publicado 2014
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  19. 19
    MAT2A Mutations Predispose Individuals to Thoracic Aortic Aneurysms

    MAT2A Mutations Predispose Individuals to Thoracic Aortic Aneurysms por Dongchuan Guo, Limin Gong, Ellen S. Regalado, Regie Lyn P. Santos‐Cortez, Zhao Ren, Bo Wen Cai, Sudha Veeraraghavan, Siddharth K. Prakash, Ralph J. Johnson, Ann Muilenburg, Marcia Willing, Guillaume Jondeau, Cathérine Boileau, Hariyadarshi Pannu, Rocio Moran, Julie De Backer, Michael J. Bamshad, Jay Shendure, Deborah A. Nickerson, Suzanne M. Leal, C.S. Raman, Eric C. Swindell, Dianna M. Milewicz

    Publicado 2014
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  20. 20
    POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4

    POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4 por Elodie Sanchez, Béryl Laplace-Builhé, Frédéric Tran Mau‐Them, Eric Richard, Alice Goldenberg, Tomi L. Toler, Thomas Guignard, Vincent Gâtinois, Marie Vincent, Catherine Blanchet, Anne Boland, Marie Thérèse Bihoreau, Jean‐François Deleuze, Robert Olaso, Walton Nephi, Hermann‐Josef Lüdecke, Joanne Verheij, Florence Moreau-Lenoir, Françoise Denoyelle, Jean‐Baptiste Rivière, Jean Laplanche, Marcia Willing, Guillaume Captier, Florence Apparailly, Dagmar Wieczorek, Corinne Collet, Farida Djouad, David Geneviève

    Publicado 2019
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:

Herramientas de búsqueda: