Aynur Kucukcongar

Ankara, Turkey

Last Updated: 09/26/2026

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Found 17 publications

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

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

Journal: American journal of medical genetics. Part A

Published: December 31, 2020

Genotypic and phenotypic features in Turkish patients with classic nonketotic hyperglycinemia.

Genotypic and phenotypic features in Turkish patients with classic nonketotic hyperglycinemia.

Journal: Metabolic brain disease

Published: November 09, 2020

Alkaptonuria in Turkey: Clinical and molecular characteristics of 66 patients.

Alkaptonuria in Turkey: Clinical and molecular characteristics of 66 patients.

Journal: European journal of medical genetics

Published: September 12, 2020

Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in Turkey.

Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in Turkey.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: October 18, 2018

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

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

Journal: Gene

Published: July 30, 2018

REVERSIBLE CLINICAL AND MAGNETIC RESONANCE IMAGING FINDINGS IN LATE-ONSET COBALAMIN C DEFECT.

REVERSIBLE CLINICAL AND MAGNETIC RESONANCE IMAGING FINDINGS IN LATE-ONSET COBALAMIN C DEFECT.

Journal: Genetic counseling (Geneva, Switzerland)

Published: February 09, 2016

MICROARRAY DELINEATION OF DE NOVO DUPLICATION 1q32q42 IN A CHILD SHOWING MULTIPLE ANOMALIES AND DYSMORPHISM.

MICROARRAY DELINEATION OF DE NOVO DUPLICATION 1q32q42 IN A CHILD SHOWING MULTIPLE ANOMALIES AND DYSMORPHISM.

Journal: Genetic counseling (Geneva, Switzerland)

Published: September 10, 2015

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

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

Journal: Pediatric hematology and oncology

Published: August 14, 2015

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

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

Journal: Genetic counseling (Geneva, Switzerland)

Published: June 06, 2015

BCS1L gene mutation causing GRACILE syndrome: case report.

BCS1L gene mutation causing GRACILE syndrome: case report.

Journal: Renal failure

Published: March 25, 2014

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

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

Journal: Metabolic brain disease

Published: November 10, 2013

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

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

Journal: Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis

Published: May 09, 2013

Showing 1-12 of 17

Last Updated: 09/26/2026