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Publications by Salem Alawbathani

Late Diagnosis of a Truncating WISP3 Mutation Results in a Severe Phenotype of Progressive Pseudorheumatoid Dysplasia.

Cold Spring Harbor molecular case studies

Molecular Medicine

English

Related publications

Progressive Pseudorheumatoid Dysplasia: Report of a Family and Review.

Journal of Medical Genetics

English

Clinical and Radiological Presentation of a Child With Progressive Pseudorheumatoid Dysplasia

Pediatric Rheumatology

English

A Novel Homozygous Truncating Mutation in LAMB2 Gene in a Chinese Uyghur Patient With Severe Phenotype Pierson Syndrome

Frontiers in Medicine

English

231 a Mutation in the SAM Domain of P63 Causing a Mild Ectodermal Dysplasia Phenotype

Journal of Investigative Dermatology

Molecular Biology

English

Progressive Supranuclear Palsy-Like Phenotype in a GBA E326K Mutation Carrier

Movement Disorders Clinical Practice

English

Mutation p.R156H of KRT10 Responsible for Severe Phenotype of Epidermolytic Ichthyosis in a Chinese Family

Therapeutics and Clinical Risk Management

English

A Novel Mutation (LEU396ARG) in OPA1 Is Associated With a Severe Phenotype in a Large Dominant Optic Atrophy Pedigree

Sensory Systems

English

Two Patients With Severe Short Stature Due to a FBN1 Mutation (p.Ala1728Val) With a Mild Form of Acromicric Dysplasia

Hormone Research in Paediatrics

English

706 Intestinal Epithelial Dysplasia - A Case Report of a Milder Phenotype

Archives of Disease in Childhood

English