European Journal of Medical Genetics (original) (raw)

Osteogenesis imperfecta: Novel genetic variants and clinical observations from a clinical exome study of 54 Indian patients

Vignesh Kumar

Annals of Human Genetics, 2020

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Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations

Samia A Temtamy

American Journal of Medical Genetics Part A, 2013

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Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta

Ghada Otaify

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Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta

HSIANG-YU LIN

Orphanet journal of rare diseases, 2015

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Molecular Diversity of Osteogenesis Imperfecta

Editor VISNAV

Visnav, 2021

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Case Report: A Novel Homozygous Variant of the SERPINF1 Gene in Rare Osteogenesis Imperfecta Type VI

Vadim Stepanov

International Journal of Molecular Sciences

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Biallelic variants in four genes underlying recessive osteogenesis imperfecta

Shabir Hussain

European Journal of Medical Genetics, 2020

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Molecular findings in Brazilian patients with osteogenesis imperfecta

Denise Cavalcanti

Journal of applied genetics, 2005

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From Genetics to Clinical Implications: A Study of 675 Dutch Osteogenesis Imperfecta Patients

Gerard Pals

Biomolecules

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Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta

Nuria Vilaboa

The American Journal of Human Genetics, 2010

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Genetic evaluation of suspected osteogenesis imperfecta (OI)

Peter Byers

Genetics in Medicine, 2006

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

Juan Llerena

Molecular genetics & genomic medicine, 2018

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Osteogenesis imperfecta in Brazilian patients

jéssica soares

Genetics and Molecular Biology

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Over-Representation of Recessive Osteogenesis Imperfecta in Asian Indian Children

Yousaf Qureshi

Journal of Pediatric Genetics, 2020

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The molecular landscape of osteogenesis imperfecta in a Brazilian tertiary service cohort

Domenici Kulikowski

Osteoporosis International, 2020

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Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease

E. Azouz

Bone, 2002

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Osteogenesis imperfecta

Peter Byers

Nature Reviews Disease Primers, 2017

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Osteogenesis Imperfecta: The Molecular Basis of Clinical Heterogeneity

Peter Byers

Annals of the New York Academy of Sciences, 1988

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Osteogenesis imperfecta: translation of mutation to phenotype

Peter Byers

Journal of Medical Genetics, 1991

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WNT1 Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta

Philippe Campeau

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Osteogenesis Imperfecta: Search for Mutations in Patients from the Republic of Bashkortostan (Russia)

Rita Khusainova

Genes, 2022

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Recessive Osteogenesis Imperfecta Caused by Missense Mutations in SPARC

Paul Roschger, Telma Palomo

American journal of human genetics, 2015

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Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype–phenotype relationships

Pui-yan Kwok

2009

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Clinical and Molecular Characterization of Osteogenesis Imperfecta Type V

Juan Llerena

Molecular Syndromology, 2015

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Editorial: Advancing our understanding of the genetic and functional basis of skeletal dysplasia

Long Guo

Frontiers in Genetics, 2023

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