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Ravi Savarirayan

Showing results (61-70 of 186) with videos related to

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Journal of Community Genetics|February 7, 2014
The impact of participation in genetic research for families with cleft lip with and without cleft palate: a qualitative studyLynley J Donoghue, Margaret A Sahhar, Ravi Savarirayan, et al.
Orphanet Journal of Rare Diseases|June 29, 2019
Thiemann disease and familial digital arthropathy - brachydactyly: two sides of the same coin?Nadirah Damseh, Jennifer Stimec, Alan O'Brien, et al.
Human Mutation|March 17, 2004
Identification of four novel COL10A1 missense mutations in schmid metaphyseal chondrodysplasia: further evidence that collagen X NC1 mutations impair trimer assemblyJohn F Bateman, Susanna Freddi, Robyn McNeil, et al.
American Journal of Medical Genetics. Part A|July 13, 2006
Two sisters with IMAGe syndrome: cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature reviewTiong Yang Tan, J Larry Jameson, Peter Ellis Campbell, et al.
Pediatric Radiology|November 9, 2002
Prenatal cortical hyperostosis (Caffey disease)Ravi Savarirayan, Valérie Cormier-Daire, David J Amor, et al.
American Journal of Medical Genetics. Part A|August 3, 2016
Recurrent chronic histiocytic intervillositis with intrauterine growth restriction, osteopenia, and fracturesApril Crawford, Lynette Moore, Gregory Bennett, et al.
Orphanet Journal of Rare Diseases|January 22, 2021
Development of the Screening Tool for Everyday Mobility and Symptoms (STEMS) for skeletal dysplasiaPenelope J Ireland, Ravi Savarirayan, Tash Pocovi, et al.
Plastic and Reconstructive Surgery|July 4, 2006
Intellectual outcomes in children and adolescents with syndromic and nonsyndromic craniosynostosisAnnette C Da Costa, Izabela Walters, Ravi Savarirayan, et al.
American Journal of Medical Genetics|March 14, 2002
Familial digital arthropathy-brachydactylyDavid J Amor, Coral Tudball, R J McKinlay Gardner, et al.
American Journal of Medical Genetics. Part A|July 16, 2008
Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9pDavid Coman, Sonya Bacic, Amber Boys, et al.
Pageof 19

Showing results (61-70 of 186) with videos related to

Sort By:
Pageof 19
Journal of Community Genetics|February 7, 2014
The impact of participation in genetic research for families with cleft lip with and without cleft palate: a qualitative studyLynley J Donoghue, Margaret A Sahhar, Ravi Savarirayan, et al.
Orphanet Journal of Rare Diseases|June 29, 2019
Thiemann disease and familial digital arthropathy - brachydactyly: two sides of the same coin?Nadirah Damseh, Jennifer Stimec, Alan O'Brien, et al.
Human Mutation|March 17, 2004
Identification of four novel COL10A1 missense mutations in schmid metaphyseal chondrodysplasia: further evidence that collagen X NC1 mutations impair trimer assemblyJohn F Bateman, Susanna Freddi, Robyn McNeil, et al.
American Journal of Medical Genetics. Part A|July 13, 2006
Two sisters with IMAGe syndrome: cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature reviewTiong Yang Tan, J Larry Jameson, Peter Ellis Campbell, et al.
Pediatric Radiology|November 9, 2002
Prenatal cortical hyperostosis (Caffey disease)Ravi Savarirayan, Valérie Cormier-Daire, David J Amor, et al.
American Journal of Medical Genetics. Part A|August 3, 2016
Recurrent chronic histiocytic intervillositis with intrauterine growth restriction, osteopenia, and fracturesApril Crawford, Lynette Moore, Gregory Bennett, et al.
Orphanet Journal of Rare Diseases|January 22, 2021
Development of the Screening Tool for Everyday Mobility and Symptoms (STEMS) for skeletal dysplasiaPenelope J Ireland, Ravi Savarirayan, Tash Pocovi, et al.
Plastic and Reconstructive Surgery|July 4, 2006
Intellectual outcomes in children and adolescents with syndromic and nonsyndromic craniosynostosisAnnette C Da Costa, Izabela Walters, Ravi Savarirayan, et al.
American Journal of Medical Genetics|March 14, 2002
Familial digital arthropathy-brachydactylyDavid J Amor, Coral Tudball, R J McKinlay Gardner, et al.
American Journal of Medical Genetics. Part A|July 16, 2008
Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9pDavid Coman, Sonya Bacic, Amber Boys, et al.
Pageof 19