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Publications by Lihadh Al-Gazali

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

American Journal of Human Genetics

English

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa

American Journal of Human Genetics

English

Biallelic Mutations in ADPRHL2 , Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

American Journal of Human Genetics

English

Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

Molecular Biology

Cancer Research

English

Erratum To: Haploinsufficiency of the E3 Ubiquitin-Protein Ligase Gene TRIP12 Causes Intellectual Disability With or Without Autism Spectrum Disorders, Speech Delay, and Dysmorphic Features

English

Molecular and Clinical Analysis of Ellis-Van Creveld Syndrome in the United Arab Emirates

BMC Medical Genetics

English