Hanan Alqudairy

发表

A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families

S. Arold, N. Kaya, D. Çolak, 2022, Cells.

A Novel GEMIN4 Variant in a Consanguineous Family Leads to Neurodevelopmental Impairment with Severe Microcephaly, Spastic Quadriplegia, Epilepsy, and Cataracts

S. Arold, N. Kaya, D. Çolak, 2021, Genes.

Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency

P. Striano, H. Prokisch, Matteo P. Ferla, 2022, Human mutation.

Clinical, radiological, and genetic characterization of SLC13A5 variants in Saudi families: Genotype phenotype correlation and brief review of the literature

N. Kaya, A. Alodaib, M. AlSayed, 2023, Frontiers in Pediatrics.

Phenotypic Variability of MEGF10 Variants Causing Congenital Myopathy: Report of Two Unrelated Patients from a Highly Consanguineous Population

N. Kaya, D. Çolak, H. Alhindi, 2021, Genes.

AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model

A. Pagnamenta, L. Hoefsloot, S. Arold, 2023, Acta Neuropathologica.

Exome Sequencing Reveals Novel TTN Variants in Saudi Patients with Congenital Titinopathies.

N. Kaya, D. Çolak, B. Udd, 2021, Genetic testing and molecular biomarkers.

Clinical, Radiological, and Genetic Characterization of a Patient with a Novel Homoallelic Loss-of-Function Variant in DNM1

S. Arold, N. Kaya, R. Altassan, 2022, Genes.