Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance

The Rho-Linked Mental Retardation Protein OPHN1 Controls Synaptic Vesicle Endocytosis via Endophilin A1

(2009) Akiko Nakano-Kobayashi et al.   CURRENT BIOLOGY

The Rho-linked mental retardation protein oligophrenin-1 controls synapse maturation and plasticity by stabilizing AMPA receptors

(2009) N. Nadif Kasri et al.   GENES & DEVELOPMENT

X-linked mental retardation: focus on synaptic function and plasticity

(2009) Yann Humeau et al.   JOURNAL OF NEUROCHEMISTRY

Array comparative genomic hybridization (aCGH) reveals the largest novel deletion in PCCA found in a Saudi family with propionic acidemia

(2008) Namik Kaya et al.   European Journal of Medical Genetics

Genome-wide gene expression profiling and mutation analysis of Saudi patients with Canavan disease

(2008) Namik Kaya et al.   GENETICS IN MEDICINE

Role of the Dysmorphologic Evaluation in the Child with Developmental Delay

(2008) Helga V. Toriello   PEDIATRIC CLINICS OF NORTH AMERICA