N. Randa

Genotype-Phenotype Correlation of the Childhood-Onset Bethlem Myopathy in the Mediterranean Region of Turkey

S. Teber, M. Kutluk, N. Kadem, 2021, Annals of Indian Academy of Neurology.

A Novel Variant of COL6A2 Gene Causing Bethlem Myopathy and Evaluation of Essential Hypertension

S. Teber, M. Kutluk, N. Kadem, 2020, Annals of Indian Academy of Neurology.

A Significant and Treatable Cause of Epileptic Encephalopathy: GRIN2D Mutation

Gultekin Kutluk, N. Randa, 2021 .

The Pitt-Hopkins Syndrome: Report of 5 Patients and Literature Comparison

Aysel Öz, Gultekin Kutluk, N. Randa, 2021 .

A Case of Congenital Central Hypothyroidism Caused by a Novel Variant (Gln1255Ter) in IGSF1 Gene

N. Randa, Doğa Türkkahraman, Nimet Karatas Torun, 2020, Journal of clinical research in pediatric endocrinology.

A novel EZH2 gene variant in a case of Weaver syndrome with postaxial polydactyly

D. Turkkahraman, N. Randa, Atiye Nil Palancı Sakarya, 2021, American journal of medical genetics. Part A.

A Case with NAD(P)HX Dehydratase (NAXD) Deficiency: A Newly Defined Mutation in a Novel Neurodegenerative Disorder

N. Randa, S. Aydin, G. Oz Tuncer, 2022, Molecular Syndromology.

Benign recurrent intrahepatic cholestasis type 2 in a child: A case report and novel mutation

I. Isik, N. Randa, U. Akbulut, 2021, Turkish archives of pediatrics.