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Publications by Gabriele Richard

78: Multi-Gene NGS Panel Yields High Diagnostic Rate of Skeletal Dysplasias Detected by Fetal Ultrasound

American Journal of Obstetrics and Gynecology
GynecologyObstetrics
2018English

Diagnostic Outcomes for Genetic Testing of 70 Genes in 8565 Patients With Epilepsy and Neurodevelopmental Disorders

Epilepsia
Neurology
2018English

De Novo Truncating Variants in theAHDC1gene Encoding the AT-hook DNA-binding Motif-Containing Protein 1 Are Associated With Intellectual Disability and Developmental Delay

Cold Spring Harbor molecular case studies
BiochemistryMolecular MedicineGenetics
2015English

Naegeli-Franceschetti-Jadassohn Syndrome and Dermatopathia Pigmentosa Reticularis: Two Allelic Ectodermal Dysplasias Caused by Dominant Mutations in KRT14

American Journal of Human Genetics
Genetics
2006English

LEKTI Is Localized in Lamellar Granules, Separated From KLK5 and KLK7, and Is Secreted in the Extracellular Spaces of the Superficial Stratum Granulosum

Journal of Investigative Dermatology
BiochemistryDermatologyCell BiologyMolecular Biology
2005English

Human Connexin Disorders of the Skin

Cell Communication and Adhesion
MedicineClinical BiochemistryCell Biology
2001English

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