R. Almass

发表

Hematological findings associated with tubulin‐folding cofactors D‐related encephalopathy: Expanding the phenotype

N. Kaya, D. Çolak, D. Monies, 2021, Clinical genetics.

Rett Syndrome, a Neurodevelopmental Disorder, Whole-Transcriptome, and Mitochondrial Genome Multiomics Analyses Identify Novel Variations and Disease Pathways.

Olfat Al-Harazi, N. Kaya, D. Çolak, 2020, Omics : a journal of integrative biology.

ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder

Olfat Al-Harazi, N. Kaya, D. Çolak, 2014, Journal of Medical Genetics.

Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy

P. Bauer, S. Arold, A. Bertoli-Avella, 2020, Acta Neuropathologica.

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

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

Molecular and clinical spectra of FBXL4 deficiency

W. Chan, H. Prokisch, F. Alkuraya, 2017, Human mutation.

Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases.

Robert W. Taylor, N. Kaya, B. Plecko, 2018, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

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.

A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature

N. Kaya, D. Çolak, A. Alodaib, 2017, The Cerebellum.

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

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

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.

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases

K. Kandaswamy, E. Aronica, P. Bauer, 2019, Acta Neuropathologica.

KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability

N. Kaya, D. Çolak, M. D’Adamo, 2016, Journal of Medical Genetics.

Genetics of ataxia telangiectasia in a highly consanguineous population

N. Kaya, D. Çolak, M. Alrasheed, 2021, Annals of human genetics.

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

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

Genetic and phenotypic characterization of NKX6‐2‐related spastic ataxia and hypomyelination

Nancy T. Malintan, N. Wood, A. Chiriță-Emandi, 2019, European journal of neurology.

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.

A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature

N. Kaya, D. Çolak, A. Alodaib, 2018, The Cerebellum.

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

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

A new association between CDK5RAP2 microcephaly and congenital cataracts

N. Kaya, M. Alfadhel, A. Alfares, 2018, Annals of human genetics.