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Publications by Andreas Winterpacht
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
Related publications
Ehlers-Danlos Syndrome and Periventricular Nodular Heterotopia in a Spanish Family With a Single FLNA Mutation
Journal of Medical Genetics
Genetics
FLNA Genomic Rearrangements Cause Periventricular Nodular Heterotopia
Neurology
Neurology
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
Stereo-Eeg: Diagnostic and Therapeutic Tool for Periventricular Nodular Heterotopia Epilepsies
Epilepsia
Neurology
De Morsier Syndrome Associated With Periventricular Nodular Heterotopia: Case Reporte
Arquivos de Neuro-Psiquiatria
Biological Psychiatry
Neurology
Periventricular Heterotopia in Common Microdeletion Syndromes
Molecular Syndromology
Genetics
A Novel Heterozygous GLI2 Mutation in a Patient With Congenital Urethral Stricture and Renal Hypoplasia/Dysplasia Leading to End-Stage Renal Failure
CEN Case Reports
Nephrology
4H Leukodystrophy Caused by a Homozygous POLR3B Mutation: Further Delineation of the Phenotype
American Journal of Medical Genetics, Part A
Genetics
A Case Report of a Symptomatic Osteopoikilosis Patient Caused by Novel Mutation in LEMD3
Endocrine Abstracts
