A. Küçükçongar

Congenital defects of glycosylation: Novel presentations with mainly neurological involvement and variable dysmorphic features

Ç. Kasapkara, G. Biberoğlu, İ. Okur, 2021, American journal of medical genetics. Part A.

Breastfeeding and Childhood Cancer: Is Breastfeeding Preventative to Childhood Cancer?

F. Pınarlı, A. Oğuz, C. Karadeniz, 2015, Pediatric hematology and oncology.

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants

S. Marie, W. Robberecht, B. Engelen, 2012, Human mutation.

Home sleep study characteristics in patients with mucopolysaccharidosis

Ç. Kasapkara, O. Köktürk, A. Hasanoğlu, 2013, Sleep and Breathing.

DGUOK-related mitochondrial DNA depletion syndrome in a child with an early diagnosis of glycogen storage disease.

S. Seneca, L. de Meirleir, Ç. Kasapkara, 2013, Journal of pediatric gastroenterology and nutrition.

Genotypic and phenotypic features in Turkish patients with classic nonketotic hyperglycinemia

A. Olgaç, Ç. Kasapkara, M. Kılıç, 2021, Metabolic Brain Disease.

BCS1L gene mutation causing GRACILE syndrome: case report

Ç. Kasapkara, A. Hasanoğlu, F. Ezgü, 2014, Renal failure.

Leukocyte Populations and C-Reactive Protein as Predictors of Bacterial Infections in Febrile Outpatient Children

H. Emeksiz, Z. Kaya, T. Gürsel, 2014, Turkish journal of haematology : official journal of Turkish Society of Haematology.

Apheresis-inducible cytokine pattern change in children with homozygous familial hypercholesterolemia.

Ç. Kasapkara, A. Hasanoğlu, B. Çelik, 2012, Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis.

High incidence of co-existing factors significantly modifying the phenotype in patients with Fabry disease.

Ç. Kasapkara, G. Biberoğlu, Serhat Koca, 2019, Gene.

Diagnosis of glycine encephalopathy in a pediatric patient by detection of a GLDC mutation during initial next generation DNA sequencing

Ç. Kasapkara, G. Biberoğlu, A. Hasanoğlu, 2014, Metabolic Brain Disease.

A case with rare type of congenital disorder of glycosylation: PGM1-CDG.

G. Matthijs, J. Jaeken, Ç. Kasapkara, 2015, Genetic counseling.

An extremely rare case: osteosclerotic metaphyseal dysplasia.

Ç. Kasapkara, A. Hasanoğlu, F. Oncü, 2013, Genetic counseling.