Burak Durmaz - Concepedia

Author

Burak Durmaz

Ege University ORCID

Also Known As

B Durmaz, B. DURMAZ, B. Durmaz, Beril Durmaz, Burak DURMAZ, Burak Durmaz, Durmaz B, Durmaz, Mehmet, Mehmet Burak Durmaz

103

Publications

1.1K

Citations

H-Index

Concepts

All Affiliations

Ege University Dr. Behçet Uz Çocuk Hastalıkları Hastanesi Istanbul University Bezmiâlem Vakıf Üniversitesi Medical Genetics Center

About

Burak Durmaz is an author at Ege University specializing in medicine, pathology, and genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	9	9	311
2	Health Sciences	2	2	54
3	Education	1	1	26
4	Engineering	1	1	14
5	Public Health	1	1	13

Burak Durmaz

Publications

970

Citations

H-Index

Page 1

	Year	Citations
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease Ender Karaca, Tamar Harel, Davut Pehli̇van, Neuron	2015	332
The missing “link”: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation Julia Schreml, Burak Durmaz, Özgür Çoğulu, Human Genetics Developmental BiologyMendelian Disorder“ Link ”Hypofunctional Xylt1 MutationGenetic Disorder	2013	77
A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome Esther Pohl, Ayça Aykut, Filippo Beleggia, Human Genetics Mendelian DisorderGenetic DisorderGeneticsPathologyHypofunctional Pax1 Mutation	2013	60
Prospective Evaluation of Whole Genome MicroRNA Expression Profiling in Childhood Acute Lymphoblastic Leukemia Muhterem Duyu, Burak Durmaz, Cumhur Gündüz, BioMed Research International Real Time Rt-pcrMixed-phenotype Acute LeukemiaImmunologyPathologyEpigenetics	2014	56
Fetal Gene Therapy Using a Single Injection of Recombinant AAV9 Rescued SMA Phenotype in Mice Afrooz Rashnonejad, Gholamhossein Amini Chermahini, Cumhur Gündüz, Molecular Therapy	2019	55
Prenatally Diagnosed Turner Syndrome and Cystic Hygroma: Incidence and Reasons for Referrals Asude Alpman, Özgür Çoğulu, Mehmet Hüseyin Akgül, Fetal Diagnosis and Therapy	2008	40
The genotoxic effect of radiofrequency waves on mouse brain Emin Karaca, Burak Durmaz, Huseyin Altug, Journal of Neuro-Oncology NeurophysiologyRadiation EffectRadiation ExposureMouse BrainBrain Injury	2011	38
Genetic factors associated with the predisposition to late onset Alzheimer's disease Asude Durmaz, Emre Kumral, Burak Durmaz, Gene Complex Trait GeneticsAlzheimer's DiseaseGeneticsDementiaGenetic Epidemiology	2019	34
Interview with Parents of Children with Down Syndrome: Their Perceptions and Feelings Asude Durmaz, Tufan Çankaya, Burak Durmaz, The Indian Journal of Pediatrics Down SyndromeChild PsychologyDevelopmental DisabilityFamily InvolvementDisability	2010	26
Diagnostic Role of MicroRNA Expression Profile in the Prenatal Amniotic Fluid Samples of Pregnant Women with Down Syndrome Emin Karaca, Ayça Aykut, Biray Ertürk, Balkan Medical Journal	2017	26

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