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BMC Pediatrics
|
July 27, 2024
The impact of HIV infection on skeletal maturity in peripubertal children in Zimbabwe: a cross-sectional study
Farirayi Kowo-Nyakoko, Celia L Gregson, Leo D Westbury, et al.
American Journal of Medical Genetics. Part A
|
May 2, 2019
Identification of novel pathogenic variants and features in patients with pseudohypoparathyroidism and acrodysostosis, subtypes of the newly classified inactivating PTH/PTHrP signaling disorders
Adam Truelove, Akhilesh Mulay, Matina Prapa, et al.
Human Molecular Genetics
|
August 20, 2019
A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia
Carsten Rautengarten, Oliver W Quarrell, Karen Stals, et al.
Science Progress
|
March 25, 2021
Rationale, design, and methods of a randomized, controlled, open-label clinical trial with open-label extension to investigate the safety of vosoritide in infants, and young children with achondroplasia at risk of requiring cervicomedullary decompression surgery
Ravi Savarirayan, Melita Irving, Wirginia Maixner, et al.
Molecular Genetics and Metabolism
|
December 16, 2014
Diagnostic evaluation, monitoring, and perioperative management of spinal cord compression in patients with Morquio syndrome
Joel Charrow, Tord D Alden, Catherine Ann R Breathnach, et al.
Bone
|
March 5, 2023
Evaluation of two methods of bone age assessment in peripubertal children in Zimbabwe
Farirayi Kowo-Nyakoko, Celia L Gregson, Tafadzwa Madanhire, et al.
Prenatal Diagnosis
|
July 22, 2014
Diagnostic accuracy of postmortem MRI for musculoskeletal abnormalities in fetuses and children
Owen J Arthurs, Sudhin Thayyil, Shea Addison, et al.
Journal of Medical Genetics
|
August 31, 2021
Expanding the phenotype of <i>SPARC</i>-related osteogenesis imperfecta: clinical findings in two patients with pathogenic variants in <i>SPARC</i> and literature review
Anna Durkin, Catherine DeVile, Paul Arundel, et al.
Annals of the New York Academy of Sciences
|
January 22, 2009
Progress in the understanding of the genetic etiology of vertebral segmentation disorders in humans
Philip F Giampietro, Sally L Dunwoodie, Kenro Kusumi, et al.
Expert Opinion on Medical Diagnostics
|
March 19, 2013
Molecular diagnosis of vertebral segmentation disorders in humans
Philip F Giampietro, Sally L Dunwoodie, Kenro Kusumi, et al.
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Search research articles
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Showing results (101-110 of 146) with videos related to
Sort By:
Page
of 15
BMC Pediatrics
|
July 27, 2024
The impact of HIV infection on skeletal maturity in peripubertal children in Zimbabwe: a cross-sectional study
Farirayi Kowo-Nyakoko, Celia L Gregson, Leo D Westbury, et al.
American Journal of Medical Genetics. Part A
|
May 2, 2019
Identification of novel pathogenic variants and features in patients with pseudohypoparathyroidism and acrodysostosis, subtypes of the newly classified inactivating PTH/PTHrP signaling disorders
Adam Truelove, Akhilesh Mulay, Matina Prapa, et al.
Human Molecular Genetics
|
August 20, 2019
A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia
Carsten Rautengarten, Oliver W Quarrell, Karen Stals, et al.
Science Progress
|
March 25, 2021
Rationale, design, and methods of a randomized, controlled, open-label clinical trial with open-label extension to investigate the safety of vosoritide in infants, and young children with achondroplasia at risk of requiring cervicomedullary decompression surgery
Ravi Savarirayan, Melita Irving, Wirginia Maixner, et al.
Molecular Genetics and Metabolism
|
December 16, 2014
Diagnostic evaluation, monitoring, and perioperative management of spinal cord compression in patients with Morquio syndrome
Joel Charrow, Tord D Alden, Catherine Ann R Breathnach, et al.
Bone
|
March 5, 2023
Evaluation of two methods of bone age assessment in peripubertal children in Zimbabwe
Farirayi Kowo-Nyakoko, Celia L Gregson, Tafadzwa Madanhire, et al.
Prenatal Diagnosis
|
July 22, 2014
Diagnostic accuracy of postmortem MRI for musculoskeletal abnormalities in fetuses and children
Owen J Arthurs, Sudhin Thayyil, Shea Addison, et al.
Journal of Medical Genetics
|
August 31, 2021
Expanding the phenotype of <i>SPARC</i>-related osteogenesis imperfecta: clinical findings in two patients with pathogenic variants in <i>SPARC</i> and literature review
Anna Durkin, Catherine DeVile, Paul Arundel, et al.
Annals of the New York Academy of Sciences
|
January 22, 2009
Progress in the understanding of the genetic etiology of vertebral segmentation disorders in humans
Philip F Giampietro, Sally L Dunwoodie, Kenro Kusumi, et al.
Expert Opinion on Medical Diagnostics
|
March 19, 2013
Molecular diagnosis of vertebral segmentation disorders in humans
Philip F Giampietro, Sally L Dunwoodie, Kenro Kusumi, et al.
Page
of 15