Uzm. Dr. Özgür Kırbıyık

Liquid biopsy for EGFR mutations in non-small cell lung cancer cases by RT-PCR

European Respiratory Journal, 2018

DOI 10.1183/13993003.congress-2018.pa1757 1 atıf (OpenAlex) Kaynak: ORCID

Two Cases with Ring Chromosome 13 at either End of the Phenotypic Spectrum

Cytogenetic and Genome Research, 2018

DOI 10.1159/000486775 PMID 29518772 3 atıf (Europe PMC) Kaynak: ORCID

Cat Eye Syndrome: Case Report

The Anatolian Journal of General Medical Research, 2018

DOI 10.5222/terh.2018.072 1 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

Growth Hormone Deficiency due to Whole-Gene Deletion of GHRHR

57th Annual ESPE, 2018

Kaynak: OpenAlex

Our Treatment Experience with Nocturnal Continuous Enteral Calcium Infusion in a Case with Vitamin D Resistance Rickets Type II

57th Annual ESPE, 2018

Kaynak: OpenAlex

PHENOTYPIC, HORMONAL AND MOLECULAR GENETIC CHARACTERISTICS OF 5-ALPHA REDUCTASE TYPE 2 DEFICIENCY PATIENTS: A MULTICENTER STUDY FROM TURKEY

Bursa Uludag University - AVESIS, 2017

Kaynak: OpenAlex

5-alfa redüktaz tip 2 eksikliği tanılı olguların fenotipik, hormonal ve moleküler genetik özellikleri: Çok merkezli ulusal veriler

Bursa Uludag University - AVESIS, 2017

Kaynak: OpenAlex

Experiences in microarray-based evaluation of developmental disabilities and congenital anomalies

Clinical Genetics, 2017

DOI 10.1111/cge.12978 PMID 28128450 9 atıf (Europe PMC) Kaynak: ORCID

QF-PCR in invasive prenatal diagnosis: a single-center experience in Turkey

Turkish Journal of Medical Sciences, 2017

DOI 10.3906/sag-1511-157 PMID 28263482 1 atıf (Europe PMC) Açık erişimli tam metinKaynak: ORCID

Can a hand radiograph indicate a special diagnosis in a child with chronic kidney disease? Answers

Pediatric Nephrology, 2017

DOI 10.1007/s00467-017-3742-0 PMID 28741273 4 atıf (OpenAlex) Kaynak: OpenAlex

Can a hand radiograph indicate a special diagnosis in a child with chronic kidney disease? Questions

Pediatric Nephrology, 2017

DOI 10.1007/s00467-017-3740-2 PMID 28702761 1 atıf (OpenAlex) Kaynak: OpenAlex

Novel ubiquitin protein ligase E3 component N-Recognin 1 gene mutation in johanson–blizzard syndrome: Development of hypothyroidism during infancy

Journal of Clinical Neonatology, 2017

DOI 10.4103/jcn.jcn_204_15 Kaynak: OpenAlex

Hemophilia A carrier female newborn with novel p.M2274T mutation presented with psoas hematoma

Pediatric Hematology Oncology Journal, 2017

DOI 10.1016/j.phoj.2017.09.001 Açık erişimli tam metinKaynak: OpenAlex

Bölüm 2: Tıbbi Genetikte Kullanılan Yöntemler

2017

Kaynak: OpenAlex

A Partıal Deletıon xp Duplıcatıon xq Case Due to Maternal Perıcentrıc Inversıon x Confırmed by Mıcroarray Medical Genetics and Clinical Applications with International Participation

AYBU AVESIS, 2016

Kaynak: OpenAlex

Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes

European Journal of Medical Genetics, 2015

DOI 10.1016/j.ejmg.2015.10.011 PMID 26518167 38 atıf (Europe PMC) Kaynak: ORCID

A Case with Acrodysostosis and Hormone Resistance

54th ESPE Meeting (ESPE 2015), 2015

Kaynak: OpenAlex

Mutations in the HumanUBR1Gene and the Associated Phenotypic Spectrum

Human Mutation, 2014

DOI 10.1002/humu.22538 PMID 24599544 54 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

Reasons for Adult Referrals for Genetic Counseling at a Genetics Center in Izmir, Turkey: Analysis of 8965 Cases over an Eleven‐Year Period

Journal of Genetic Counseling, 2011

DOI 10.1007/s10897-010-9342-9 PMID 21221751 3 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

Long‐term evaluation of chromosomal breakages after radioisotope synovectomy for treatment of target joints in patients with haemophilia

Haemophilia, 2009

DOI 10.1111/j.1365-2516.2009.02167.x PMID 20050929 16 atıf (OpenAlex) Kaynak: OpenAlex

The Evaluation of the Referral Reasons of Patients at a Tertiary Pediatric Genetic Center in Izmir, Turkey

Genetic Testing and Molecular Biomarkers, 2009

DOI 10.1089/gtmb.2008.0074 PMID 19371213 2 atıf (OpenAlex) Kaynak: OpenAlex

Intracardiac echogenic focus and cytogenetic abnormalities.

PubMed, 2009

PMID 19400545 1 atıf (OpenAlex) Kaynak: OpenAlex

Prospective Evaluation of Chromosomal Breakages in Hemophiliac Children after Radioisotope Synovectomy with Yttrium90 and Rhenium186.

Blood, 2008

DOI 10.1182/blood.v112.11.1219.1219 1 atıf (OpenAlex) Kaynak: OpenAlex

Seckel syndrome with Morgagni hernia

Clinical Dysmorphology, 2007

DOI 10.1097/mcd.0b013e3281c9b08e PMID 17551341 2 atıf (OpenAlex) Kaynak: OpenAlex