Albandary Albakheet

发表

Age-Specific Gene Expression Signatures for Breast Tumors and Cross-Species Conserved Potential Cancer Progression Markers in Young Women

B. Park, N. Kaya, D. Çolak, 2013, PloS one.

A novel mutation in a large family causes a unique phenotype of Mucolipidosis IV.

N. Kaya, D. Çolak, Albandary Albakheet, 2013, Gene.

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

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

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

N. Kaya, D. Çolak, S. Coskun, 2008, European journal of medical genetics.

Novel V97G ASAH1 mutation found in Farber disease patients: Unique appearance of the disease with an intermediate severity, and marked early involvement of central and peripheral nervous system

N. Kaya, D. Çolak, Z. Al-Hassnan, 2012, Brain and Development.

Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking

J. Rosenfeld, D. Trabzuni, S. Arold, 2021, Brain : a journal of neurology.

Global Transcriptional Profiling of Granulosa Cells from Polycystic Ovary Syndrome Patients: Comparative Analyses of Patients with or without History of Ovarian Hyperstimulation Syndrome Reveals Distinct Biomarkers and Pathways

N. Kaya, D. Çolak, S. Coskun, 2022, Journal of clinical medicine.

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.

Identification of novel genomic imbalances in Saudi patients with congenital heart disease

N. Kaya, D. Çolak, B. Levy, 2018, Molecular Cytogenetics.

Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay.

N. Kaya, D. Çolak, Y. Lakmache, 2013, American journal of human genetics.

N. Kaya, D. Çolak, P. Ozand, 2012 .

A novel X‐linked disorder with developmental delay and autistic features

F. Alkuraya, N. Kaya, D. Çolak, 2012, Annals of neurology.

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.

Ancient founder mutation in RUBCN: a second unrelated family confirms Salih ataxia (SCAR15)

N. Kaya, D. Çolak, M. Salih, 2020, BMC Neurology.

Pyrostigmine therapy in a patient with VAMP1-related congenital myasthenic syndrome

N. Kaya, D. Çolak, M. Alrasheed, 2020, Neuromuscular Disorders.

Clinical and biochemical features associated with BCS1L mutation

Robert W. Taylor, N. Kaya, D. Çolak, 2013, Journal of Inherited Metabolic Disease.

SLC25A42‐associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion

Robert W. Taylor, N. Kaya, D. Çolak, 2021, JIMD reports.

Identification of novel genomic imbalances in Saudi patients with congenital heart disease

N. Kaya, D. Çolak, B. Levy, 2018, Molecular Cytogenetics.

Genomic and transcriptomic analyses distinguish classic Rett and Rett-like syndrome and reveals shared altered pathways.

N. Kaya, D. Çolak, P. Ozand, 2011, Genomics.