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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
Gynecology
Obstetrics
Diagnostic Outcomes for Genetic Testing of 70 Genes in 8565 Patients With Epilepsy and Neurodevelopmental Disorders
Epilepsia
Neurology
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
Biochemistry
Molecular Medicine
Genetics
Naegeli-Franceschetti-Jadassohn Syndrome and Dermatopathia Pigmentosa Reticularis: Two Allelic Ectodermal Dysplasias Caused by Dominant Mutations in KRT14
American Journal of Human Genetics
Genetics
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
Biochemistry
Dermatology
Cell Biology
Molecular Biology
Human Connexin Disorders of the Skin
Cell Communication and Adhesion
Medicine
Clinical Biochemistry
Cell Biology
