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Publications by P Gomez-Garre
Ehlers-Danlos Syndrome and Periventricular Nodular Heterotopia in a Spanish Family With a Single FLNA Mutation
Journal of Medical Genetics
Genetics
Related publications
FLNA Genomic Rearrangements Cause Periventricular Nodular Heterotopia
Neurology
Neurology
A Dual Phenotype of Periventricular Nodular Heterotopia and Frontometaphyseal Dysplasia in One Patient Caused by a Single FLNA Mutation Leading to Two Functionally Different Aberrant Transcripts
American Journal of Human Genetics
Genetics
A Single Base Mutation in COL5A2 Causes Ehlers-Danlos Syndrome Type II.
Journal of Medical Genetics
Genetics
De Morsier Syndrome Associated With Periventricular Nodular Heterotopia: Case Reporte
Arquivos de Neuro-Psiquiatria
Biological Psychiatry
Neurology
A Novel Missense Mutation of COL5A2 in a Patient With Ehlers–Danlos Syndrome
Human Genome Variation
Biochemistry
Genetics
Molecular Biology
Classical Ehlers-Danlos Syndrome Caused by a Mutation in Type I Collagen
American Journal of Human Genetics
Genetics
Bilateral Periventricular Nodular Heterotopia (BPNH) Detected on Fetal and Maternal MRI, Caused by a Novel Filamin a Mutation
Ultrasound in Obstetrics and Gynecology
Nuclear Medicine
Radiology
Ultrasound Technology
Gynecology
Reproductive Medicine
Radiological
Imaging
Obstetrics
Medicine
Hypermobile Ehlers-Danlos Syndrome (a.k.a. Ehlers-Danlos Syndrome Type III and Ehlers-Danlos Syndrome Hypermobility Type): Clinical Description and Natural History
American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
Genetics
Hypermobile Ehlers Danlos Syndrome
Balkan Medical Journal
Medicine
