檢索結果 - David A. Stevenson

Refine Results
  1. 1
    Mice lacking Nf1 in osteochondroprogenitor cells display skeletal dysplasia similar to patients with neurofibromatosis type I

    Mice lacking Nf1 in osteochondroprogenitor cells display skeletal dysplasia similar to patients with neurofibromatosis type I 由 Weixi Wang, Jeffry S. Nyman, Koichiro Ono, David A. Stevenson, Xiangli Yang, Florent Elefteriou

    出版 2011
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  2. 2
    Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

    Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) 由 Douglas R. Stewart, Bruce R. Korf, Katherine L. Nathanson, David A. Stevenson, Kaleb Yohay

    出版 2018
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  3. 3
    Variable expression of neurofibromatosis 1 in monozygotic twins

    Variable expression of neurofibromatosis 1 in monozygotic twins 由 Margaret B. Rieley, David A. Stevenson, David Viskochil, Brad T. Tinkle, Lisa J. Martin, Elizabeth K. Schorry

    出版 2011
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  4. 4
    Motor Proficiency in Children With Neurofibromatosis Type 1

    Motor Proficiency in Children With Neurofibromatosis Type 1 由 Barbara Johnson, Bruce A. MacWilliams, John C. Carey, David Viskochil, Jacques DʼAstous, David A. Stevenson

    出版 2010
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  5. 5
    Comparative genomic hybridization and chromosomal instability in solid tumours

    Comparative genomic hybridization and chromosomal instability in solid tumours 由 Patrick H. Rooney, Graeme I. Murray, David A. Stevenson, N E Haites, J Cassidy, Howard L. McLeod

    出版 1999
    獲取全文 獲取全文
    Revisão
    加到收藏夾
    Saved in:
  6. 6
    Double Inactivation of NF1 in Tibial Pseudarthrosis

    Double Inactivation of NF1 in Tibial Pseudarthrosis 由 David A. Stevenson, Holly Zhou, Shadi Ashrafi, Ludwine Messiaen, John C. Carey, Jacques DʼAstous, Stephen D. Santora, David Viskochil

    出版 2006
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  7. 7
    Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era

    Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era 由 Jamie McDonald, Whitney Wooderchak‐Donahue, Chad VanSant Webb, Kevin J. Whitehead, David A. Stevenson, Pınar Bayrak‐Toydemir

    出版 2015
    獲取全文 獲取全文
    Revisão
    加到收藏夾
    Saved in:
  8. 8
    NALCN channelopathies

    NALCN channelopathies 由 Eric G. Bend, Yue Si, David A. Stevenson, Pınar Bayrak‐Toydemir, Tara Newcomb, Erik M. Jørgensen, Kathryn J. Swoboda

    出版 2016
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  9. 9
    Bone Mineral Density in Children and Adolescents with Neurofibromatosis Type 1

    Bone Mineral Density in Children and Adolescents with Neurofibromatosis Type 1 由 David A. Stevenson, Laurie J. Moyer‐Mileur, Mary Murray, Hillarie Slater, Xiaoming Sheng, John C. Carey, Bukhosi Dube, David Viskochil

    出版 2006
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  10. 10
    Contributing factors of mortality in Prader–Willi syndrome

    Contributing factors of mortality in Prader–Willi syndrome 由 Jennifer Proffitt, Kathryn Osann, Barbara McManus, Virginia Kimonis, Janalee Heinemann, Merlin G. Butler, David A. Stevenson, June‐Anne Gold

    出版 2018
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  11. 11
    Arteriovenous Malformations—Current Understanding of the Pathogenesis with Implications for Treatment

    Arteriovenous Malformations—Current Understanding of the Pathogenesis with Implications for Treatment 由 Katharina Schimmel, Md Khadem Ali, Serena Y. Tan, Joyce Teng, Huy M., Gary K. Steinberg, David A. Stevenson, Edda Spiekerkoetter

    出版 2021
    獲取全文 獲取全文
    Revisão
    加到收藏夾
    Saved in:
  12. 12
    Gastric Rupture and Necrosis in Prader‐Willi Syndrome

    Gastric Rupture and Necrosis in Prader‐Willi Syndrome 由 David A. Stevenson, Janalee Heinemann, Moris Angulo, Merlin G. Butler, Jim Loker, Norma Rupe, Patrick Kendell, Suzanne B. Cassidy, Ann Scheimann

    出版 2007
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  13. 13
    Deaths due to choking in Prader–Willi syndrome

    Deaths due to choking in Prader–Willi syndrome 由 David A. Stevenson, Janalee Heinemann, Moris Angulo, Merlin G. Butler, Jim Loker, Norma Rupe, Patrick Kendell, Carol L. Clericuzio, Ann Scheimann

    出版 2006
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  14. 14
    Genetic Variants Associated with Port-Wine Stains

    Genetic Variants Associated with Port-Wine Stains 由 Alice Frigerio, Karol Wright, Whitney Wooderchak‐Donahue, Oon Tian Tan, Rebecca L. Margraf, David A. Stevenson, J. Fredrik Grimmer, Pınar Bayrak‐Toydemir

    出版 2015
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  15. 15
    Neurofibromin (Nf1) is required for skeletal muscle development

    Neurofibromin (Nf1) is required for skeletal muscle development 由 Nadine Kossler, Sigmar Stricker, Christian Rödelsperger, Peter N. Robinson, Johnny Kim, Carola Dietrich, Monika Osswald, Jirko Kühnisch, David A. Stevenson, Thomas Braun, Stefan Mundlos, Mateusz Kolanczyk

    出版 2011
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  16. 16
    Asfotase-α improves bone growth, mineralization and strength in mouse models of neurofibromatosis type-1

    Asfotase-α improves bone growth, mineralization and strength in mouse models of neurofibromatosis type-1 由 Jean De La Croix Ndong, Alexander J. Makowski, Sasidhar Uppuganti, Guillaume Vignaux, Koichiro Ono, Daniel S. Perrien, Simon Joubert, S. Rubina Baglio, Donatella Granchi, David A. Stevenson, Jonathan J. Rios, Jeffry S. Nyman, Florent Elefteriou

    出版 2014
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  17. 17
    Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia

    Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia 由 Viktor Lukacs, Jayanti Mathur, Rong Mao, Pinar Bayrak‐Toydemir, Melinda Procter, Stuart M. Cahalan, Helen J. Kim, Michael Bandell, Nicola Longo, Ronald W. Day, David A. Stevenson, Ardem Patapoutian, Bryan L. Krock

    出版 2015
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  18. 18
    Hyperactive Ras/MAPK signaling is critical for tibial nonunion fracture in neurofibromin-deficient mice

    Hyperactive Ras/MAPK signaling is critical for tibial nonunion fracture in neurofibromin-deficient mice 由 Richa Sharma, Xiaohua Wu, Steven D. Rhodes, Shi Chen, Yongzheng He, Jin Yuan, Jiliang Li, Xianlin Yang, Xiaohong Li, Li Jiang, Edward T. Kim, David A. Stevenson, David Viskochil, Mingjiang Xu, Feng‐Chun Yang

    出版 2013
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  19. 19
    Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation

    Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation 由 Whitney Wooderchak‐Donahue, Peter Johnson, Jamie McDonald, Francine Blei, Alejandro Berenstein, Michelle Sorscher, Jennifer Mayer, Angela E. Scheuerle, Tracey Lewis, J. Fredrik Grimmer, Gresham T. Richter, Marcie Steeves, Angela E. Lin, David A. Stevenson, Pınar Bayrak‐Toydemir

    出版 2018
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  20. 20
    BMP9 Mutations Cause a Vascular-Anomaly Syndrome with Phenotypic Overlap with Hereditary Hemorrhagic Telangiectasia

    BMP9 Mutations Cause a Vascular-Anomaly Syndrome with Phenotypic Overlap with Hereditary Hemorrhagic Telangiectasia 由 Whitney Wooderchak‐Donahue, Jamie McDonald, Brendan O’Fallon, Paul D. Upton, Wei Li, Beth L. Roman, Sarah P. Young, Parker Plant, Gyula T. Fülöp, Carmen Langa, Nicholas W. Morrell, Luisa M. Botella, Carmelo Bernabéu, David A. Stevenson, James Runo, Pınar Bayrak‐Toydemir

    出版 2013
    獲取全文
    Artigo
    加到收藏夾
    Saved in:

檢索工具: