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Publications by J. Pinner

Fetal Costello Syndrome: A Description of the Phenotype of HRAS Exon 1 Mutations

Ultrasound in Obstetrics and Gynecology

Nuclear Medicine

Ultrasound Technology

Reproductive Medicine

English

Related publications

Neonatal Lethal Costello Syndrome and Unusual Dinucleotide Deletion/Insertion Mutations in HRAS Predicting p.Gly12Val

American Journal of Medical Genetics, Part A

English

Costello Syndrome: A Ras/Mitogen Activated Protein Kinase Pathway Syndrome (Rasopathy) Resulting From HRAS Germline Mutations

Genetics in Medicine

English

Molecular Confirmation of HRAS p.G12S in Siblings With Costello Syndrome

American Journal of Medical Genetics, Part A

English

HRAS Mutants Identified in Costello Syndrome Patients Can Induce Cellular Senescence: Possible Implications for the Pathogenesis of Costello Syndrome

Journal of Human Genetics

English

Refining the Phenotype of Common Mutations in Rett Syndrome

Journal of Medical Genetics

English

Cutis Laxa: A Feature of Costello Syndrome.

Journal of Medical Genetics

English

KIT Expression in Angiosarcomas and Fetal Endothelial Cells: Lack of Mutations of Exon 11 and Exon 17 of C-Kit

Modern Pathology

Forensic Medicine

English

Novel CUL7 Biallelic Mutations Alter the Skeletal Phenotype of 3M Syndrome

Human Genome Variation

Molecular Biology

English

Costello Syndrome in Two Brazilian Children.

Journal of Medical Genetics

English