Associated Papers
Mutations in Osteoclast Genes as Causes of Osteoclast-Related Diseases.
Živković JM et al.
Dna and Cell Biology, 2025
Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis.
Liang H et al.
Molecular Genetics & Genomic Medicine, 2021
Genetic Variant c.245A>G (p.Asn82Ser) in GIPC3 Gene Is a Frequent Cause of Hereditary Nonsyndromic Sensorineural Hearing Loss in Chuvash Population.
Petrova NV et al.
Genes, 2021
The use of whole exome sequencing for the diagnosis of autosomal recessive malignant infantile osteopetrosis.
Shamriz O et al.
Clinical Genetics, 2017
[Population frequency and age of mutation G5741→A in gene NBAS which is a cause of SOPH syndrome in Sakha (Yakutia) Republic].
Maksimova NR et al.
Genetika, 2016
Extending the Spectrum of Radiological Findings in Patients With Severe Osteopetrosis and Different Genetic Backgrounds.
Simanovsky N et al.
Pediatric Blood & Cancer, 2016
Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect.
Bliznetz EA et al.
European Journal of Human Genetics : Ejhg, 2009
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