scholarly journals Developing pathways to clarify pathogenicity of unclassified variants in Osteogenesis Imperfecta genetic analysis

2019 ◽  
Vol 7 (12) ◽  
Author(s):  
Meena Balasubramanian ◽  
Emma Hobson ◽  
Mars Skae ◽  
Janine McCaughey ◽  
David J. Stephens
Keyword(s):  
Genetic Analysis ◽  
Osteogenesis Imperfecta ◽  
Unclassified Variants

Genetic analysis of the Gitelman syndrome coexisting with Osteogenesis imperfecta

2021 ◽  
Vol 518 ◽  
pp. 116-122
Author(s):  
Se Jin Park ◽  
Ju Young Kim ◽  
Hye-Jeong Ahn ◽  
Haing-Woon Baik ◽  
Ju Hyung Kang
Keyword(s):  
Genetic Analysis ◽  
Osteogenesis Imperfecta ◽  
Gitelman Syndrome

Morphological and functional aspects of genetic analysis of osteogenesis imperfecta in cultured dermal fibroblasts

1992 ◽  
Vol 114 (1) ◽  
pp. 1028-1031
Author(s):  
E. M. Meerson ◽  
F. S. Barer ◽  
A. P. Berezhnyi ◽  
E. V. Prokhorova ◽  
T. P. Malyavko ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Osteogenesis Imperfecta ◽  
Dermal Fibroblasts ◽  
Functional Aspects

scholarly journals CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis

2009 ◽  
Vol 17 (12) ◽  
pp. 1560-1569 ◽  
Author(s):  
Fleur S Van Dijk ◽  
Isabel M Nesbitt ◽  
Peter G J Nikkels ◽  
Ann Dalton ◽  
Ernie M H F Bongers ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Osteogenesis Imperfecta ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis

scholarly journals Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families

2017 ◽  
Vol 6 (1) ◽  
pp. 15-26 ◽  
Author(s):  
Osama Essawi ◽  
Sofie Symoens ◽  
Maha Fannana ◽  
Mohammad Darwish ◽  
Mohammad Farraj ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Osteogenesis Imperfecta ◽  
Molecular Screening ◽  
Palestinian Population

scholarly journals Genetic analysis in Japanese patients with osteogenesis imperfecta: Genotype and phenotype spectra in 96 probands

2021 ◽  
Author(s):  
Yousuke Higuchi ◽  
Kosei Hasegawa ◽  
Natsuko Futagawa ◽  
Miho Yamashita ◽  
Hiroyuki Tanaka ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Osteogenesis Imperfecta ◽  
Japanese Patients

scholarly journals Erratum: CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis

2009 ◽  
Vol 17 (12) ◽  
pp. 1692-1692 ◽  
Author(s):  
Fleur S Van Dijk ◽  
Isabel M Nesbitt ◽  
Peter G J Nikkels ◽  
Ann Dalton ◽  
Ernie M H F Bongers ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Osteogenesis Imperfecta ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis
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