खोज परिणाम - Michael B. Bober

परिणाम को परिष्कृत करें
  1. 1
    Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review

    Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review द्वारा Michael B. Bober, Andrew P. Jackson

    प्रकाशित 2017
    पूर्ण पाठ प्राप्त करें
    Revisão
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    में बचाया:
  2. 2
    The expanding phenotype of <i>RNU4ATAC</i> pathogenic variants to Lowry Wood syndrome

    The expanding phenotype of <i>RNU4ATAC</i> pathogenic variants to Lowry Wood syndrome द्वारा Laura S. Farach, Mary Ellen Little, Angela L. Duker, Clare V. Logan, Andrew P. Jackson, Jaqueline T. Hecht, Michael B. Bober

    प्रकाशित 2017
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    Artigo
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  3. 3
    The IMPACT survey: a mixed methods study to understand the experience of children, adolescents and adults with osteogenesis imperfecta and their caregivers

    The IMPACT survey: a mixed methods study to understand the experience of children, adolescents and adults with osteogenesis imperfecta and their caregivers द्वारा Ingunn Westerheim, Tracy Hart, Taco van Welzenis, Lena Lande Wekre, Oliver Semler, Cathleen Raggio, Michael B. Bober, Maria Rapoport, Samantha J. Prince, Frank Rauch

    प्रकाशित 2024
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    Artigo
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  4. 4
    Obstructive airway in Morquio A syndrome, the past, the present and the future

    Obstructive airway in Morquio A syndrome, the past, the present and the future द्वारा Shunji Tomatsu, Lauren W. Averill, Kazuki Sawamoto, William G. Mackenzie, Michael B. Bober, Christian Pizarro, Christopher J. Goff, Li Xie, Tadao Orii, Mary C. Theroux

    प्रकाशित 2015
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    Artigo
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  5. 5
    Mucopolysaccharidosis IVA: Correlation between genotype, phenotype and keratan sulfate levels

    Mucopolysaccharidosis IVA: Correlation between genotype, phenotype and keratan sulfate levels द्वारा Vũ Chí Dũng, Shunji Tomatsu, Adriana M. Montaño, Gary S. Gottesman, Michael B. Bober, William G. Mackenzie, Miho Maeda, Grant A. Mitchell, Yasuyuki Suzuki, Tadao Orii

    प्रकाशित 2013
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    Artigo
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    में बचाया:
  6. 6
    Enzyme replacement therapy for treating mucopolysaccharidosis type IVA (Morquio A syndrome): effect and limitations

    Enzyme replacement therapy for treating mucopolysaccharidosis type IVA (Morquio A syndrome): effect and limitations द्वारा Shunji Tomatsu, Kazuki Sawamoto, Tsutomu Shimada, Michael B. Bober, Francyne Kubaski, Eriko Yasuda, Robert W. Mason, Shaukat Khan, Carlos Javier Alméciga-Díaz, Luis A. Barrera, William G. Mackenzie, Tadao Orii

    प्रकाशित 2015
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    Artigo
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    में बचाया:
  7. 7
    The patient clinical journey and socioeconomic impact of osteogenesis imperfecta: a systematic scoping review

    The patient clinical journey and socioeconomic impact of osteogenesis imperfecta: a systematic scoping review द्वारा Maria Rapoport, Michael B. Bober, Cathleen Raggio, Lena Lande Wekre, Frank Rauch, Ingunn Westerheim, Tracy Hart, Taco van Welzenis, Arun Mistry, James Clancy, Lucy Booth, Samantha J. Prince, Oliver Semler

    प्रकाशित 2023
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    Artigo
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    में बचाया:
  8. 8
    Best practice guidelines regarding prenatal evaluation and delivery of patients with skeletal dysplasia

    Best practice guidelines regarding prenatal evaluation and delivery of patients with skeletal dysplasia द्वारा Ravi Savarirayan, Judith Pratt Rossiter, Julie Hoover‐Fong, Melita Irving, Viviana Bompadre, Michael J. Goldberg, Michael B. Bober, Tae‐Joon Cho, Shawn E. Kamps, William G. Mackenzie, Cathleen Raggio, Samantha S. Spencer, Klane K. White

    प्रकाशित 2018
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    Revisão
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    में बचाया:
  9. 9
    Fibrochondrogenesis Results from Mutations in the COL11A1 Type XI Collagen Gene

    Fibrochondrogenesis Results from Mutations in the COL11A1 Type XI Collagen Gene द्वारा Stuart W. Tompson, Carlos A. Bacino, Nicole P. Safina, Michael B. Bober, Virginia K. Proud, Tara Funari, Michael F. Wangler, Lisette Nevarez, Leena Ala‐Kokko, William R. Wilcox, David R. Eyre, Deborah Krakow, Daniel H. Cohn

    प्रकाशित 2010
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    Artigo
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    में बचाया:
  10. 10
    Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes

    Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes द्वारा Isabel Huang‐Doran, Louise S. Bicknell, Francis Finucane, Nuno Rocha, Keith Porter, Y.C. Loraine Tung, Ferenc Szekeres, Anna Krook, John J. Nolan, Mark O’Driscoll, Michael B. Bober, Stephen O’Rahilly, Andrew P. Jackson, Robert K. Semple

    प्रकाशित 2011
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    Artigo
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    में बचाया:
  11. 11
    Best practices in peri‐operative management of patients with skeletal dysplasias

    Best practices in peri‐operative management of patients with skeletal dysplasias द्वारा Klane K. White, Viviana Bompadre, Michael J. Goldberg, Michael B. Bober, Tae‐Joon Cho, Julie Hoover‐Fong, Melita Irving, William G. Mackenzie, Shawn E. Kamps, Cathleen Raggio, Gregory J. Redding, Samantha S. Spencer, Ravi Savarirayan, Mary C. Theroux

    प्रकाशित 2017
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    Artigo
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  12. 12
    A Unique Set of Centrosome Proteins Requires Pericentrin for Spindle-Pole Localization and Spindle Orientation

    A Unique Set of Centrosome Proteins Requires Pericentrin for Spindle-Pole Localization and Spindle Orientation द्वारा Chun‐Ting Chen, Heidi Hehnly, YU Qing, Debby Farkas, Guoqiang Zheng, Sambra D. Redick, Hui-Fang Hung, Rajeev Samtani, Agata Jurczyk, Schahram Akbarian, Carol A. Wise, Andrew P. Jackson, Michael B. Bober, Yin Guo, Cecilia Lo, Stephen Doxsey

    प्रकाशित 2014
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    Artigo
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  13. 13
    Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States

    Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States द्वारा Julie Hoover‐Fong, Adekemi Yewande Alade, S. Shahrukh Hashmi, Jacqueline T. Hecht, Janet M. Legare, Mary Ellen Little, Chengxin Liu, John McGready, Peggy Modaff, Richard M. Pauli, David Rodriguez‐Buritica, Kerry Schulze, Maria E. Serna, Cory J. Smid, Michael B. Bober

    प्रकाशित 2021
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    Artigo
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  14. 14
    Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study—a multi-center retrospective cohort study of achondroplasia in the US

    Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study—a multi-center retrospective cohort... द्वारा Julie Hoover‐Fong, Kerry Schulze, Adekemi Yewande Alade, Michael B. Bober, Ethan Gough, S. Shahrukh Hashmi, Jacqueline T. Hecht, Janet M. Legare, Mary Ellen Little, Peggy Modaff, Richard M. Pauli, David Rodriguez‐Buritica, Maria E. Serna, Cory J. Smid, Chengxin Liu, John McGready

    प्रकाशित 2021
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    Artigo
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  15. 15
    A cross‐sectional multicenter study of osteogenesis imperfecta in North America – results from the linked clinical research centers

    A cross‐sectional multicenter study of osteogenesis imperfecta in North America – results from the linked clinical research centers द्वारा Ruchita Patel, Sandesh C.S. Nagamani, David Cuthbertson, Philippe M. Campeau, J. Krischer, Jay R. Shapiro, Robert D. Steiner, Peter A. Smith, Michael B. Bober, Peter H. Byers, Melanie Pepin, Michaela Durigova, Francis H. Glorieux, Frank Rauch, B.H. Lee, Tracy Hart, V. Reid Sutton

    प्रकाशित 2014
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    Artigo
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  16. 16
    Impact of enzyme replacement therapy and&amp;nbsp;hematopoietic stem cell transplantation in&amp;nbsp;patients with Morquio A syndrome

    Impact of enzyme replacement therapy and&amp;nbsp;hematopoietic stem cell transplantation in&amp;nbsp;patients with Morquio A syndrome द्वारा Shunji Tomatsu, Roberto Giugliani, Francyne Kubaski, Sawamoto Kazuki, Carlos Javier Alméciga-Díaz, Luis A. Barrera, Adriana M. Montaño, Eriko Yasuda, Yasutsugu Chinen, Robert W. Mason, William G. Mackenzie, Michael B. Bober, Tadao Orii, Hiromasa Yabe, Tsutomu Shimada, Ángela J. Espejo, Alexander Rodríguez‐López, Oscar F. Sánchez

    प्रकाशित 2015
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    Revisão
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  17. 17
    Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta

    Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta द्वारा Sunil Bellur, Mahim Jain, David Cuthbertson, Deborah Krakow, Jay R. Shapiro, Robert D. Steiner, Peter A. Smith, Michael B. Bober, Tracy Hart, J. Krischer, Mary A. Mullins, Peter H. Byers, Melanie Pepin, Michaela Durigova, Francis H. Glorieux, Frank Rauch, V. Reid Sutton, B. Lee, Sandesh C.S. Nagamani

    प्रकाशित 2015
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    Artigo
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  18. 18
    Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice

    Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice द्वारा Oliver Semler, Valérie Cormier‐Daire, Ekkehart Lausch, Michael B. Bober, Ricki Carroll, Sérgio B. Sousa, David R. Deyle, Maha Faden, G Hartmann, Aaron J. Huser, Janet M. Legare, Klaus Mohnike, Tilman Rohrer, Frank Rutsch, Pamela S. Smith, André Travessa, Angela Verardo, Klane K. White, William R. Wilcox, Julie Hoover‐Fong

    प्रकाशित 2023
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    Artigo
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  19. 19
    A multicenter study to evaluate pulmonary function in osteogenesis imperfecta

    A multicenter study to evaluate pulmonary function in osteogenesis imperfecta द्वारा Allison Tam, Shan Chen, Evan Schauer, Ingo Grafe, Venkata Bandi, Jay R. Shapiro, Robert D. Steiner, Peter A. Smith, Michael B. Bober, Tracy Hart, David Cuthbertson, Jeffrey P. Krischer, Mary A. Mullins, Peter H. Byers, Robert A. Sandhaus, Michaela Durigova, Francis H. Glorieux, Frank Rauch, V. Reid Sutton, Brendan Lee, Eric T. Rush, Sandesh C.S. Nagamani

    प्रकाशित 2018
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    Artigo
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  20. 20
    Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis

    Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis द्वारा Carol-Anne Martin, Jennie Murray, Paula Carroll, Andrea Leitch, Karen J. Mackenzie, Mihail Halachev, Ahmed E. Fetit, Charlotte Keith, Louise S. Bicknell, Adeline Fluteau, Philippe Gautier, Emma A. Hall, Shelagh Joss, Gabriela Soares, João Silva, Michael B. Bober, Angela L. Duker, Carol A. Wise, Alan J. Quigley, Shubha R. Phadke, Andrew J. Wood, Paola Vagnarelli, Andrew P. Jackson

    प्रकाशित 2016
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    Artigo
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