Area of research
Genetics · Clinical Biochemistry
Research interest
Research interests include Biology, Genetics, Medicine, Polymicrogyria, Missense mutation, and Mutation.
National Rapid Genome Sequencing in Neonatal Intensive Care
Glycerol Phenylbutyrate Treatment of 2 Patients With Monocarboxylate Transporter 8 Deficiency
Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects
Novel Calcium-Sensing Receptor (CASR) Mutation in a Family with Autosomal Dominant Hypocalcemia Type 1 (ADH1): Genetic Study over Three Generations and Clinical Characteristics
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome
Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs
The role of orotic acid measurement in routine newborn screening for urea cycle disorders
De novo <scp>STXBP1</scp> mutation in a child with developmental delay and spasticity reveals a major structural alteration in the interface with syntaxin <scp>1A</scp>
Haploinsufficiency in the ANKS1B gene encoding AIDA-1 leads to a neurodevelopmental syndrome
De novo mutations in GRIN1 cause extensive bilateral polymicrogyria
Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum
Testicular differentiation factor SF-1 is required for human spleen development