Metrics
Publication
69
Open Access
3
UN Sustainable Development Goals
Education
2015 - 2020
2015 - 2020Doctorate
Istanbul University, Health Sciences Institute, Genetik Doktora Programı, Turkey
2009 - 2014
2009 - 2014Expertise In Medicine
Istanbul University, Cerrahpaşa Tıp Fakültesi, Çocuk Sağlığı Ve Hastalıkları Abd, Turkey
2002 - 2008
2002 - 2008Undergraduate
Hacettepe University, Tıp Fakültesi, Tıp Fakültesi (İngilizce Tıp Programı), Turkey
Dissertations
2020
2020Doctorate
Identification of new genes and investigation of related proteins in rare skeletal dysplasias
Istanbul University, Aziz Sancar Institute Of Experimental Medicine, Department Of Genetics
2013
2013Expertise In Medicine
Çocukluk Çağı Kanserlerinin Demografik, Klinik ve Sağkalım Özellikleri (1990-2012) 
İstanbul Üniversitesi, Cerrahpaşa Tıp Fakültesi, Çocuk Sağlığı Ve Hastalıkları
Certificates, Courses and Trainings
2016
2016Genetik Uzmanları İçin Yeni Nesil Dizileme Kursu
Health&Medicine
3. Nörometabolik Dismorfoloji Sempozyumu
2016
2016Hematolojik Malignitelerde Uygulamalı FISH Kursu
Health&Medicine
Ege Üniversitesi Tıp Fakültesi Tıbbi Genetik ABD
2013
2013Hemoglobinopatilerde Moleküler Genetik Uygulamalar Kursu
Health&Medicine
Ege Üniversitesi Tıp Fakültesi Tıbbi Genetik ABD
2013
2013Yenidoğan Resüsitasyon Kursu
Health&Medicine
Sağlık Bakanlığı
2013
2013Klinik Çalışma Eğitimi
Health&Medicine
Türk Pediatri Derneği
2012
2012Çocuk Yoğun Bakım Kursu
Health&Medicine
48. Türk Pediatri Kongresi
2010
2010Çocuk Yoğun Bakım Kursu
Health&Medicine
Çocuk Acil Tıp ve Yoğun Bakım Derneği
Research Areas
Medicine
Internal Medicine Sciences
Child Health and Diseases
Health Sciences
Research Areas Based on Academic Activities
Avesis Research Areas
WoS Research Areas
Scopus Research Areas
Academic Positions
2016 - Present
2016 - PresentAssistant Professor
İstanbul University-Cerrahpaşa, Cerrahpasa Faculty of Medicine, Department of Internal Medicine
Courses
Doctorate
Doctorate
SEMİNER
KROMOZOMAL HASTALIKLAR
MOLEKÜLER GENETİK
MENDEL VE MENDEL DIŞI HASTALIKLAR
Undergraduate
Undergraduate
İskelet Displazileri ve Sendromik Boy Kısalıkları
Genetik Hastalıklarda Tedavi Yaklaşımları
Genetik Testlerin Seçimi ve Yorumlanması
Approach to Dysmorphic Children and Genetic Counseling
Approach to Dysmorphic Children and Genetic Counseling
Genetic therapies
Mental retardation
Genetic examination and growth genetics in the child
Mental retardation
Genetic testing methods
Genetic examination and growth genetics in the child
Skeletal Dysplasias and Syndromic Short Stature
Articles
All (45)
SCI-E, SSCI, AHCI (39)
SCI-E, SSCI, AHCI, ESCI (45)
ESCI (6)
Scopus (44)
TRDizin (8)
2025
20251. Genotypic and Phenotypic Landscape of KBG Syndrome: A Study of 23 Turkish Individuals
Avci Durmusalioglu E., Isik E., Turkut Tan T., Dogan Y. C., NUR B., Yeter B., et al.
American Journal of Medical Genetics, Part A
, vol.197, no.10, 2025 (SCI-Expanded, Scopus)
2025
20252. Insights into Natural History, Phenotypic, and Molecular Spectrum in a Large Cohort of Osteosclerotic Disorders.
Uludağ Alkaya D., Usluer E., Alp Ünkar Z., Şeker A., Adaletli İ., Güneş N., et al.
Calcified tissue international
, vol.116, no.1, pp.59, 2025 (SCI-Expanded, Scopus)
2025
20253. Comparison of the natural course of clinical and radiologic features in 13 patients with TRPV4-related skeletal dysplasias
Gunes N., Alkaya D., Kurugoglu S., Ozyalvac N., Bursali A., ELÇİOĞLU H. N., et al.
PEDIATRIC RADIOLOGY
, vol.55, pp.505-519, 2025 (SCI-Expanded, Scopus)
2024
20244. Further characterization of ARSK-related mucopolysaccharidosis type 10
ULUDAĞ ALKAYA D., TANER H. E., Yildirim T., Akpinar E., Tueysuez B.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, vol.194, no.8, 2024 (SCI-Expanded, Scopus)
2023
20235. The molecular spectrum of Turkish osteopetrosis and related osteoclast disorders with natural history, including a candidate gene, CCDC120.
TÜYSÜZ B., Usluer E., Uludağ Alkaya D., OCAK S., SAYGILI S. K., ŞEKER A., et al.
Bone
, vol.177, pp.116897, 2023 (SCI-Expanded, Scopus)
2023
20236. Investigation of (Epi)genetic causes in syndromic short children born small for gestational age
TÜYSÜZ B., Kasap B., Uludağ Alkaya D., Alp Ünkar Z., Köseoğlu P., GEYİK F., et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS
, vol.66, no.11, 2023 (SCI-Expanded, Scopus)
2023
20237. Congenital Heart Defects and Outcome in a Large Cohort of Down Syndrome: A Single-Center Experience from Turkey
Uludağ Alkaya D., Öztürk B., Yüksel Ülker A., Bozlak S., Öztürk E., Dedeoğlu R., et al.
TURKISH ARCHIVES OF PEDIATRICS
, vol.58, no.5, pp.473-479, 2023 (ESCI, TRDizin)
2023
20238. Biallelic frameshift variants in PHLDB1 cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changes.
TÜYSÜZ B., Uludag Alkaya D., GEYİK F., Alaylloǧlu M., Kasap B., KURUĞOĞLU S., et al.
Journal of medical genetics
, vol.60, no.8, pp.819-826, 2023 (SCI-Expanded, Scopus)
2023
20239. Phenotypic and Molecular Spectrum of a Turkish Cohort with Hereditary Multiple Osteochondromas.
GÜNEŞ N., ALKAYA D. U., TOYLU A., ÖZÜDOĞRU P., SUNAMAK E. Ç., ŞEKER A., et al.
Turkish archives of pediatrics
, vol.58, no.4, pp.376-381, 2023 (ESCI, Scopus, TRDizin)
2023
202310. An investigation of the etiology and follow-up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant
Yüksel Ülker A., Alkaya D., Caglayan A. O., Usluer E., Aykut A., Aslanger A., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, vol.191, no.6, pp.1530-1545, 2023 (SCI-Expanded, Scopus)
2023
202311. Natural history of clinical features in two brothers with acromesomelic dysplasia related to PRKG2.
Mollaoğlu E., Uludağ Alkaya D., Yıldız C. A., Kasap B., TÜYSÜZ B.
Clinical genetics
, vol.103, no.5, pp.574-579, 2023 (SCI-Expanded, Scopus)
2023
202312. Investigation of 11p15.5 Methylation Defects Associated with Beckwith-Wiedemann Spectrum and Embryonic Tumor Risk in Lateralized Overgrowth Patients.
Tüysüz B., Bozlak S., Uludağ Alkaya D., Ocak S., Kasap B., Sunamak Çifçi E., et al.
Cancers
, vol.15, no.6, 2023 (SCI-Expanded, Scopus)
2023
202313. A Large Turkish Cohort of Williams Syndrome: The Evaluation of Facial, Cardiovascular, and Neuropsychiatric Features.
Bozlak S., Uludağ Alkaya D., Kasap B., Yüksel Ülker A., Yıldız C. A., Altındağ V., et al.
Turkish archives of pediatrics
, vol.58, no.2, pp.182-188, 2023 (ESCI, TRDizin)
2023
202314. Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants
Tüysüz B., Kasap B., Sarıtaş M., Alkaya D., Bozlak S., Kıykım A., et al.
BONE
, vol.167, 2023 (SCI-Expanded, Scopus)
2023
202315. CELIAC DISEASE SCREENING IN A LARGE DOWN SYNDROME COHORT: COMPARISON OF DIAGNOSTIC YIELD OF DIFFERENT SEROLOGICAL SCREENING TESTS
ULUDAĞ ALKAYA D., Sozen S., Ozturk B., KEPİL N., ERKAN T., KUTLU H. T., et al.
JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI
, no.4, pp.319-326, 2023 (ESCI, TRDizin)
2023
202316. The Clinical and Molecular Spectrum of Trichorhinophalangeal Syndrome Types I and II in a Turkish Cohort Involving 22 Patients
GÜNEŞ N., USLUER E., YÜKSEL ÜLKER A., ULUDAĞ ALKAYA D., ÇİFÇİ SUNAMAK E., CELEP EYÜPOĞLU F., et al.
TURKISH ARCHIVES OF PEDIATRICS
, vol.58, no.1, pp.98-104, 2023 (ESCI, Scopus, TRDizin)
2023
202317. Early Diagnostic Signs and the Natural History of Typical Findings in Cohen Syndrome.
Güneş N., ULUDAĞ ALKAYA D., Demirbilek V., YALÇINKAYA C., TÜYSÜZ B.
The Journal of pediatrics
, vol.252, pp.93-100, 2023 (SCI-Expanded, Scopus)
2022
202218. Specific early signs and long-term follow-up findings of Progressive Pseudorheumatoid Dysplasia (PPRD) in the Turkish cohort.
Uludağ Alkaya D., Kasapçopur Ö., Bursalı A., Adrovic A., Demir B., Aykut A., et al.
Rheumatology (Oxford, England)
, vol.61, pp.3693-3703, 2022 (SCI-Expanded, Scopus)
2022
202219. Biallelic BICD2 variant is a novel candidate for Cohen-like syndrome
ÇAĞLAYAN A. O., TÜYSÜZ B., Gul E., ULUDAĞ ALKAYA D., YALÇINKAYA C., Gleeson J. G., et al.
JOURNAL OF HUMAN GENETICS
, vol.67, no.9, pp.553-556, 2022 (SCI-Expanded, Scopus)
2022
202220. Long-term follow-up findings in a Turkish girl with osteogenesis imperfecta type XX caused by a homozygous MESD variant
ULUDAĞ ALKAYA D., UYGUNER Z. O., GÜNEŞ N., TÜYSÜZ B.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, vol.188, no.5, pp.1639-1646, 2022 (SCI-Expanded, Scopus)
2022
202221. Osteogenesis imperfecta in 140 Turkish families: Molecular spectrum and, comparison of long-term clinical outcome of those with COL1A1/A2 and biallelic variants
TÜYSÜZ B., Elkanova L., ULUDAĞ ALKAYA D., Gulec C., Toksoy G., GÜNEŞ N., et al.
BONE
, vol.155, 2022 (SCI-Expanded, Scopus)
2022
202222. Two novel variants and follow-up findings in four children with Bloom syndrome from two families.
Kasap B., Guclu-Geyik F., Uludag Alkaya D., Cetin G., Tuysuz B.
Clinical dysmorphology
, vol.31, pp.31-35, 2022 (SCI-Expanded, Scopus)
2021
202123. Natural history of facial and skeletal features from neonatal period to adulthood in a 3M syndrome cohort with biallelic CUL7 or OBSL1 variants.
Tüysüz B., Ünkar Z., Turan H., Gezdirici A., Alkaya D., Kasap B., et al.
European journal of medical genetics
, vol.64, no.12, pp.104346, 2021 (SCI-Expanded, Scopus)
2021
202124. Long-Term Follow-Up Outcomes of 19 Patients with Osteogenesis Imperfecta Type XI and Bruck Syndrome Type I Caused by FKBP10 Variants
YÜKSEL ÜLKER A., ULUDAĞ ALKAYA D., Elkanova L., ŞEKER A., Akpinar E., Akarsu N. A., et al.
CALCIFIED TISSUE INTERNATIONAL
, vol.109, no.6, pp.633-644, 2021 (SCI-Expanded, Scopus)
2021
202125. Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1, RAF1, RIT1 variants, and large deletion in NF1
ULUDAĞ ALKAYA D., Lissewski C., Yesil G., Zenker M., TÜYSÜZ B.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, vol.185, no.12, pp.3623-3633, 2021 (SCI-Expanded, Scopus)
2021
202126. Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey
Berkay E. G., Elkanova L., Kalayci T., ULUDAĞ ALKAYA D., Altunoglu U., Cefle K., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, vol.185, no.8, pp.2488-2495, 2021 (SCI-Expanded, Scopus)
2021
202127. Neurofibromatosis Type 1 in Children: A Single-Center Experience
Kacar A. G., KILINÇ OKTAY B., Ozel S., OCAK S., GÜNEŞ N., ULUDAĞ ALKAYA D., et al.
TURKISH ARCHIVES OF PEDIATRICS
, vol.56, no.4, pp.339-343, 2021 (ESCI, Scopus, TRDizin)
2021
202128. Resolution of sclerotic lesions of dysosteosclerosis due to biallelic SLC29A3 variant in a Turkish girl
ULUDAĞ ALKAYA D., Akpinar E., Bilguvar K., TÜYSÜZ B.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, vol.185, no.7, pp.2271-2277, 2021 (SCI-Expanded, Scopus)
2021
202129. Seven patients with Smith-McCort dysplasia 2: Four novel nonsense variants in RAB33B and follow-up findings
TÜYSÜZ B., Geyik F., Yildirim T., ULUDAĞ ALKAYA D., Sharifova S., Kafadar A. M.
EUROPEAN JOURNAL OF MEDICAL GENETICS
, vol.64, no.7, 2021 (SCI-Expanded, Scopus)
2021
202130. Epidemiology and survival of childhood cancer in Turkey
Kebudi R., ULUDAĞ ALKAYA D.
PEDIATRIC BLOOD & CANCER
, vol.68, no.2, 2021 (SCI-Expanded, Scopus)
2021
202131. A patient with mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratodermia syndrome caused by AP1B1 gene variant.
Meriç R., Ercan-Sencicek A. G., Uludağ Alkaya D., Şahin Y., Sar M., Bilguvar K., et al.
Clinical dysmorphology
, vol.30, pp.54-57, 2021 (SCI-Expanded, Scopus)
2020
202032. Clinical and Molecular Characterization of Fanconi Anemia Patients in Turkey
Toksoy G., Uludağ Alkaya D., Bagirova G., Avcı Ş., Aghayev A., Günes N., et al.
Molecular Syndromology
, vol.11, no.4, pp.183-196, 2020 (SCI-Expanded, Scopus)
2020
202033. Three Offspring with Cri-du-Chat Syndrome from Phenotypically Normal Parents.
Alkaya D., Karaman B., TÜYSÜZ B.
Molecular syndromology
, vol.11, no.2, pp.97-103, 2020 (SCI-Expanded, Scopus)
2020
202034. Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy.
Chatron N., Becker F., Morsy H., Schmidts M., Hardies K., Tuysuz B., et al.
Brain : a journal of neurology
, vol.143, pp.1447-1461, 2020 (SCI-Expanded, Scopus)
2019
201935. Mutation spectrum and pivotal features for differential diagnosis of Mucopolysaccharidosis IVA patients with severe and attenuated phenotype
Tüysüz B., ALKAYA D., TOKSOY G., GÜNEŞ N., YıLDıRıM T., BAYHAN İ., et al.
GENE
, vol.704, pp.59-67, 2019 (SCI-Expanded, Scopus)
2018
201836. Genotype–phenotype investigation of 35 patients from 11 unrelated families with camptodactyly–arthropathy–coxa vara–pericarditis (CACP) syndrome
Yilmaz S., Alkaya D., Kasapcopur O., Barut K., Akdemir E. S., Celen C., et al.
Molecular Genetics and Genomic Medicine
, vol.6, no.2, pp.230-248, 2018 (SCI-Expanded, Scopus)
2018
201837. Mucolipidosis type III gamma: Three novel mutation and genotype phenotype study in eleven patients
Tuysuz B., Kasapcopur O., Alkaya D., Sahin S., Sozeri B., YEŞİL G.
GENE
, vol.642, pp.398-407, 2018 (SCI-Expanded, Scopus)
2014
201438. DEMOGRAPHIC, CLINICAL AND SURVIVAL FEATURES OF CHILDHOOD CANCERS IN ISTANBUL UNIVERSITY, ONCOLOGY INSTITUTE (1990-2012)
Kebudi R., Uludag D.
PEDIATRIC BLOOD & CANCER
, vol.61, 2014 (SCI-Expanded, Scopus)
2014
201439. DEMOGRAPHIC, CLINICAL AND SURVIVAL FEATURES OF CHILDHOOD CENTRAL NERVOUS SYSTEM TUMORS IN ISTANBUL UNIVERSITY, ONCOLOGY INSTITUTE DURING 22 YEARS (1990-2012)
Kebudi R., Darendeliler E., Gorgun O., Agaoglu F. Y., Uludag D., Ayan I.
NEURO-ONCOLOGY
, vol.16, 2014 (SCI-Expanded, Scopus)
2013
201340. Voriconazole Induced Bradycardia
Uludag D., Ozdemir N., Tuysuz G., Eroglu A. G., Celkan T.
PEDIATRIC HEMATOLOGY AND ONCOLOGY
, vol.30, no.7, pp.674-676, 2013 (SCI-Expanded, Scopus)
2013
201341. EXTRACRANIAL GERM CELL TUMORS IN CHILDREN: 23-YR EXPERIENCE OF A SINGLE CENTER
Kebudi R., Cakir F. B., Gorgun O., Uludag D., Ayan I., Zulfikar B., et al.
PEDIATRIC BLOOD & CANCER
, vol.60, pp.101, 2013 (SCI-Expanded, Scopus)
2012
201242. EFFICIACY OF DICHLOROACETATE USAGE IN A TERM AND A PRETERM NEWBORN
Kiykim E., ZEYBEK A. Ç., SOYUCEN E., ERCAN E. T., CANSEVER M. S., ULUDAG D., et al.
JOURNAL OF INHERITED METABOLIC DISEASE
, vol.35, 2012 (SCI-Expanded, Scopus)
2011
201143. Henoch-Schoenlein purpura associated with Mycoplasma pneumoniae
Tasdemir M., Canpolat N., Uludag D., Sener D., Arisoy N.
TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS
, vol.46, no.4, pp.354-355, 2011 (SCI-Expanded, Scopus, TRDizin)
2011
201144. Circumcision in children with bleeding diathesis
Ozdemir G. N., Celik E., Bulut M., Uludag D., Ozcan R., Celkan T.
TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS
, vol.46, no.4, pp.313-317, 2011 (SCI-Expanded, Scopus, TRDizin)
2010
201045. EXTRACRANIAL GERM CELL TUMORS IN CHILDREN: RESULTS IN 20 YEARS IN A SINGLE CENTER
Kebudi R., Ayan I., Gorgun O., Zulfikar B., Emiroglu H., Ozdemir N., et al.
PEDIATRIC BLOOD & CANCER
, vol.55, no.5, pp.881, 2010 (SCI-Expanded, Scopus)
Papers Presented at Peer-Reviewed Scientific Conferences
2022
20221. A case with spondyloenchondrodysplasia with immune dysregulation (SPENCDI) caused by a novel missense ACP5 mutation
Ozturk N., ULUDAĞ ALKAYA D., KARAMIK G., NUR B., TÜYSÜZ B., MIHÇI E.
55th European-Society-of-Human-Genetics (ESHG) Conference, Vienna, Austria, 11 - 14 June 2022, pp.400, (Summary Text)
2021
20212. Fokal Dermal Hipoplazili Dört Hastanın Klinik ve Genetik Bulgularının Değerlendirilmesi
Hotaman B., Yüksel Ülker A., Kaynar Ö., Bozlak S., Çifçi Sunamak E., Usluer E., et al.
Cerrahpaşa Pediatri Günleri- Semptomdan Tanıya 2021, İstanbul, Turkey, 15 - 18 April 2021, pp.138, (Summary Text)
2021
20213. Tüm Ekzom Dizileme Yönteminin Nadir Sklerotik Kemik Displazisi Tanısına Katkısı
Usluer E., Geyik F., Yüksel Ülker A., Uludağ Alkaya D., Tüysüz B.
Cerrahpaşa Pediatri Günleri Semptomdan tanıya, İstanbul, Turkey, 15 - 18 April 2021, pp.151, (Summary Text)
2021
20214. Kraniosinostoz Sendromu Olan Yedi Hastanın Klinik ve Genetik Bulgularının Değerlendirilmesi
Kaynar Ö., Bozlak S., Hotaman B., Yüksel Ülker A., Çifçi Sunamak E., Uludağ Alkaya D., et al.
Cerrahpaşa Pediatri Günleri- Semptomdan Tanıya 2021, İstanbul, Turkey, 15 - 18 April 2021, pp.185, (Summary Text)
2021
20215. Williams-Beuren Sendromu Tanılı Çocukların Klinik bulgularının değerlendirilmesi
Bozlak S., Uludağ Alkaya D., Usluer E., Bayrak İ., Altındağ V., Ülkersoy İ., et al.
6. Genç Pediatristler Kongresi 2021, 5 - 07 March 2021, pp.100, (Summary Text)
2020
20206. Clinical features and identification of mutation spectrum in 23 Turkish children with Kabuki syndrome
Usluer E., Yeşil Sayın G., Güneş N., Uludağ Alkaya D., Tüysüz B.
European Human Genetics Virtual Conference 2020, 6 June - 09 September 2020, (Summary Text)
2020
20207. EDA, TP63, LMX1B gen mutasyonlarının neden olduğu ectodermal displazi sendromlu üç olguda klinik bulgularının değerlendirilmesi
Usluer E., Kasap B., Uludağ Alkaya D., Güneş N., Yeşil Sayın G., Tüysüz B.
1. Bursa Uluslararası Katılımlı Genetik Günleri Dermatogenetik Sempozyomu 2020, Bursa, Turkey, 9 - 11 January 2020, pp.156, (Summary Text)
2018
20188. Severe speech delay in Cohen Syndrome: three novel mutations and the long-term follow-up of nine patients
Akdeniz B., Gunes N., Uludag D., Ercan-Sencicek G., Caglayan O., Bilguvar K., et al.
51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, Italy, 16 - 19 June 2018, vol.27, pp.315-316, (Summary Text)
2018
20189. Distinct phenotypes within TRPV4-associated disorders in the infantile period
Tuysuz B., Gunes N., Yesil G., Ozer E., Uludag-Alkaya D., Pehlivan D., et al.
51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, Italy, 16 - 19 June 2018, pp.132, (Summary Text)
2017
201710. Clinical and molecular findings in Turkish patients with MPS IV
Tuysuz B., Alkaya D., Toksoy G., Gunes N., Uyguner Z.
50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Denmark, 27 - 30 May 2017, vol.26, pp.300, (Summary Text)
2017
201711. Mutation spectrum of Fanconi anemia associated genes in eleven patients from Turkey
Uyguner Z., Toksoy G., Alkaya D., Aghayev A., Celkan T., Basaran S., et al.
50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Denmark, 27 - 30 May 2017, vol.26, pp.468-469, (Summary Text)
2017
201712. The phenotype-genotype correlation of RASopathies in 33 patients from Turkey
Alkaya D., Yesil G., Lissewski C., Gunes N., Zenker M., Tuysuz B.
50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Denmark, 27 - 30 May 2017, vol.26, pp.249, (Summary Text)
2017
201713. Hiperandrojenizm ve iskelet displazisi: PAPSS2 gen mutasyonu olan 7 olgunun incelenmesi
ULUDAĞ ALKAYA D.
2. Ege Endokrin Hastalıklar ve Genetik Sempozyumu, İzmir, Turkey, 23 - 25 February 2017, pp.55, (Full Text)
2016
201614. 5p delesyonu olan 3 kardeş:Babada gonadal mozaisizm
ULUDAĞ ALKAYA D.
3.Nörometabolik Dismorfoloji, İstanbul, Turkey, 10 March 2016 - 12 March 2017, pp.62, (Full Text)
2016
201615. Nötropeni ile seyreden nadir bir sendrom: Cohen sendromu
ULUDAĞ ALKAYA D.
2. Hematolojik Genetik Sempozyumu, İzmir, Turkey, 24 - 26 February 2016, pp.66, (Full Text)
2014
201416. Demographic, clinical, and survival features of childhood cancers in Istanbul, Turkey (1990-2012)
Kebudi R., Uludag D.
50th Annual Meeting of the American-Society-of-Clinical-Oncology, Illinois, United States Of America, 30 May - 03 June 2014, vol.32, (Summary Text)
2013
201317. Hiperandrojenizm ve Pakistan Tip SED birlikteliği
ULUDAĞ ALKAYA D.
2.Nörometabolik Dismorfoloji Sempozyumu, İstanbul, Turkey, 8 - 09 March 2013, pp.39, (Full Text)
Books
2024
20241. Trichorhinophalangeal Syndrome
Tüysüz B., Güneş N., Uludağ Alkaya D.
in: Genereviews, Margaret P Adam,Jerry Feldman,Ghayda M Mirzaa,Roberta A Pagon,Stephanie E Wallace,Anne Amemiya, Editor, University of Washington, Washington, pp.1-22, 2024
2024
20242. Klinik Fenotipleme
Uludağ Alkaya D., Tüysüz B.
in: Yeni Nesil Dizileme ve Klinikteki Uygulamaları, ÇAĞLAYAN AHMET OKAY,YÜKSEL ZAFER, Editor, Güneş Tıp Kitabevleri, İstanbul, pp.1-9, 2024
2023
20233. Olgu Örnekleri ile Genetik Testlerin Seçimi ve Yorumlanması
Tüysüz B., Uludağ Alkaya D., Güneş N.
in: Pediatri Pratiğinde Genetik Testlerin Seçimi ve Yorumlanması, Beyhan Tüysüz, Editor, Ankara Nobel Tıp Kitabevleri, İstanbul, pp.1-32, 2023
2023
20234. Polimorfizm ve Mutasyon
Çakiris A., Emrence Z., Uludağ Alkaya D.
in: Pediatri Pratiğinde Genetik Testlerin Seçimi ve Yorumlanması, Beyhan Tüysüz, Editor, Ankara Nobel Tıp Kitabevleri, İstanbul, pp.75-79, 2023
2023
20235. Genetik bölümü
Uludağ Alkaya D., Tüysüz B.
in: Cerrahpaşa Pediatri Rutinleri, Prof. Dr. Haluk Çokuğraş,Doç. Dr. Kenan Barut, Editor, Ankara Nobel Tıp Kitabevleri, İstanbul, pp.323-352, 2023
2021
20216. Silver Russell Sendromu ve İlişkili Hastalıklar
Uludağ Alkaya D.
in: Çocuk Genetik Uygulamalarında Sık Görülen Hastalıkların Takip ve Tedavisi, Mıhçı Ercan, Editor, Türkiye Klinikleri, İstanbul, pp.1-7, 2021
Funded Projects
2020 - 2022
2020 - 2022
Sebebi Bilinmeyen Aşırı Büyüme Sendromlu Çocuklarda Tüm Ekzom Dizileme İle Yeni Genlerin Araştırılması
Project Supported by Higher Education Institutions , BAP Research Project
YÜKSEL ÜLKER A. (Executive), TÜYSÜZ B., ULUDAĞ ALKAYA D., USLUER E.
2020 - 2022
2020 - 2022Nadir Sklerotik Kemik Hastalıklarında Tüm Ekzom Dizileme Yöntemi İle Bilinmeyen Genlerinin Araştırılması
Project Supported by Higher Education Institutions , BAP Research Project
USLUER E. (Executive), ULUDAĞ ALKAYA D., YÜKSEL ÜLKER A., TÜYSÜZ B.
2020 - 2021
2020 - 2021İskelet Displazisi Olan Çocuklarda Spondiloepifizyel, Spondilometafizyel Ve Spondiloepimetafizyel Displaziyle İlişkili Genlerinin Araştırılması
Project Supported by Higher Education Institutions , BAP Other
TÜYSÜZ B. (Executive), ULUDAĞ ALKAYA D., KASAP B., GÜÇLÜ GEYİK F.
2019 - 2021
2019 - 2021Nadir İskelet Displazilerinde Yeni Genlerin Tanımlanması
Project Supported by Higher Education Institutions , BAP Research Project
ULUDAĞ ALKAYA D. (Executive), TÜYSÜZ B., UYGUNER Z. O.
2019 - 2020
2019 - 2020INTRAUTERİN BAŞLANGIÇLI SENDROMİK BOY KISALIĞI OLAN OLGULARDA BASKILANMIŞ VE BİLİNMEYEN GENLERİN ARAŞTIRILMASI
Project Supported by Higher Education Institutions , BAP Other
TÜYSÜZ B. (Executive), KASAP B., ULUDAĞ ALKAYA D., ÖZER E., ÜNALTUNA N., KÖSEOĞLU P., et al.
2017 - 2017
2017 - 2017Rasopati tanılı 33 Türk hastada fenotip-genotip korelasyonu (The phenotype-genotype correlation of RASopathies in 33 patients from Turkey)
Project Supported by Higher Education Institutions , BAP Other
ULUDAĞ ALKAYA D. (Executive), LİSSEWSKİ C., TÜYSÜZ B., ZENKER M. C. D., GÜNEŞ N., YEŞİL G.
2017 - 2017
2017 - 2017Clinical and molecular findings in Turkish patients with MPS IV
Project Supported by Higher Education Institutions , BAP Other
TÜYSÜZ B. (Executive), ULUDAĞ ALKAYA D., GÜNEŞ N., TOKSOY G., UYGUNER Z. O.