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Publications by Maria Valencia

Identification of a Mutation Causing Deficient BMP1/mTLD Proteolytic Activity in Autosomal Recessive Osteogenesis Imperfecta

Human Mutation
Genetics
2011English

Ellis-Van Creveld Syndrome: Mutations Uncovered in Lebanese Families

Case Reports in Genetics
2015English

Related publications

Autosomal Recessive Osteogenesis Imperfecta: A Puzzle for Bone Formation, Structure and Function

Current Genetic Medicine Reports
2013English

Mutation in Kallikrein 4 Causes Autosomal Recessive Hypomaturation Amelogenesis Imperfecta

Journal of Medical Genetics
Genetics
2004English

Osteogenesis Imperfecta

2004English

Osteogenesis Imperfecta

American Journal of Obstetrics and Gynecology
GynecologyObstetrics
1929English

Autosomal Dominant Amelogenesis Imperfecta Associated withENAMframeshift Mutation p.Asn36Ilefs56

Clinical Genetics
Genetics
2012English

Osteogenesis Imperfecta

English

Osteogenesis Imperfecta

2020English

Insight to FBXO31 Novel Mutation p.Cys283Asn Causing Non‑Syndromic Autosomal Recessive Intellectual Disability Using Computational Methods

Clinical Proteomics and Bioinformatics
2016English

Osteogenesis Imperfecta

Proceedings of the Royal Society of Medicine
1916English

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