Doç. Dr. Özlem Akgün Doğan

A Case of Leukoencephalopathy and Small Vessels Disease Caused by a Novel HTRA1 Homozygous Mutation

Journal of Stroke and Cerebrovascular Diseases, 2019

DOI 10.1016/j.jstrokecerebrovasdis.2019.104354 PMID 31494012 5 citations (Europe PMC) Source : OpenAlex

Ophthalmo-acromelic syndrome in an infant

European Journal of Medical Genetics, 2019

DOI 10.1016/j.ejmg.2019.05.003 PMID 31067494 1 citation (Europe PMC) Source : OpenAlex

FRI0556 GENETIC SCREENING IN PATIENTS WITH UNDIFFERENTIATED PERIODIC FEVER SYNDROME

Annals of the Rheumatic Diseases, 2019

DOI 10.1136/annrheumdis-2019-eular.7907 Texte intégral en libre accèsSource : OpenAlex

SAT0483 COMPARISON OF THE CLINICAL DIAGNOSTIC CRITERIA AND RESULTS OF THE NEXT GENERATION SEQUENCE GENE PANEL IN PATIENTS WITH PERIODIC FEVER

Annals of the Rheumatic Diseases, 2019

DOI 10.1136/annrheumdis-2019-eular.7378 Texte intégral en libre accèsSource : OpenAlex

Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcification

Journal of Human Genetics, 2018

DOI 10.1038/s10038-018-0473-4 PMID 29884795 8 citations (Europe PMC) Source : OpenAlex

Hyperphosphatasia with mental retardation syndrome type 4 In two siblings-expanding the phenotypic and mutational spectrum

European Journal of Medical Genetics, 2018

DOI 10.1016/j.ejmg.2018.09.002 PMID 30217754 5 citations (Europe PMC) Source : OpenAlex

A novel NKX3-2 mutation associated with perinatal lethal phenotype of spondylo-megaepiphyseal-metaphyseal dysplasia in a neonate

European Journal of Medical Genetics, 2018

DOI 10.1016/j.ejmg.2018.04.013 PMID 29704686 6 citations (Europe PMC) Source : OpenAlex

Anauxetic dysplasia: A rare clinical entity

The Turkish Journal of Pediatrics, 2018

DOI 10.24953/turkjped.2018.01.014 PMID 30102486 4 citations (Europe PMC) Source : OpenAlex

HERC1 mutations in idiopathic intellectual disability

European Journal of Medical Genetics, 2017

DOI 10.1016/j.ejmg.2017.03.007 PMID 28323226 40 citations (Europe PMC) Source : OpenAlex

Homozygous indel mutation in CDH11 as the probable cause of Elsahy–Waters syndrome

American Journal of Medical Genetics Part A, 2017

DOI 10.1002/ajmg.a.38495 PMID 28988429 14 citations (Europe PMC) Source : OpenAlex

Fragile x-associated premature ovarian failure in a large Turkish cohort: Findings of Hacettepe Fragile X Registry

European Journal of Obstetrics & Gynecology and Reproductive Biology, 2017

DOI 10.1016/j.ejogrb.2017.12.028 PMID 29275276 4 citations (Europe PMC) Source : OpenAlex

Coexistence of Trisomy 13 and SRY (−) XX Ovotesticular Disorder of Sex Development

Fetal and Pediatric Pathology, 2017

DOI 10.1080/15513815.2017.1379039 PMID 29220612 2 citations (Europe PMC) Source : OpenAlex

Prenatal and Postnatal Follow-up in Trisomies 13 and 18: A 20-Year Experience in a Tertiary Center

American Journal of Perinatology, 2017

DOI 10.1055/s-0037-1608632 PMID 29112995 3 citations (Europe PMC) Source : OpenAlex

A Diagnosis to Consider in an Adult Patient with Facial Features and Intellectual Disability: Williams Syndrome

Korean Journal of Family Medicine, 2017

DOI 10.4082/kjfm.2017.38.2.102 PMID 28360987 Texte intégral en libre accèsSource : OpenAlex

The origin of SARS-CoV-2 in İstanbul: Sequencing fmdings from the epicenter of the pandemic in Turkey.

Source : page de profil sur acibadem.com.tr

Responding to COVID-19 in İstanbul: Perspective from genomic laboratory.

Source : page de profil sur acibadem.com.tr

The musculoskeletal system manifestations in children with familial Mediterranean fever.

Source : page de profil sur acibadem.com.tr

Cafe noir spots:a feature of familial Progressive hyper- and hypopigmentation

Source : page de profil sur acibadem.com.tr