Umut Altunoglu - Cayeli Ishakoglu State Hospital, Istanbul Faculty of Medicine

基本信息

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职业迁徙

个人简介

Mainly a clinical geneticist involved in multidisciplinary management of patients with rare malformation syndromes. Research focus is on the refinement of new syndromic phenotypes, and identification of novel genes underlying disease.

研究兴趣

论文共 140 篇作者统计合作学者相似作者

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Clinical and Molecular Characteristics of 26 Fetuses with Lethal Multiple Congenital Contractures

Gozde Tutku Turgut,Umut Altunoglu,Cagri Gulec,Tugba Sarac Sivrikoz,Tugba Kalayci,Guven Toksoy,Sahin Avci, Behiye Tugce Yildirim,Gozde Yesil Sayin,Ibrahim Halil Kalelioglu,Birsen Karaman,Recep Has,Seher Basaran,Atil Yuksel,Hulya Kayserili,Zehra Oya Uyguner

CLINICAL GENETICSno. 6 (2024): 596-610

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Variant Characterisation and Clinical Profile in a Large Cohort of Patients with Ellis-van Creveld Syndrome and a Family with Weyers Acrofacial Dysostosis

JOURNAL OF MEDICAL GENETICSno. 7 (2024): 633-644

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A Novel Truncating Variant in Sandestig-Stefanova Syndrome with Hydrocephalus

Guelnihal Bulut,Gozde Tutku Turgut,Guven Toksoy,Umut Altunoglu,Ayca Dilruba Aslanger,Zehra Oya Uyguner,Birsen Karaman

MOLECULAR SYNDROMOLOGY (2024)

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Clinical and Neurogenetic Characterisation of Autosomal Recessive RBL2-associated Progressive Neurodevelopmental Disorder

medRxiv the preprint server for health sciences (2024)

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Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta

Leyli Senturk,Cagri Gulec,Tugba Sarac Sivrikoz,Hulya Kayserili,Ibrahim Halil Kalelioglu,Sahin Avci,Recep Has,Paul Coucke,Tugba Kalayci,Bernd Wollnik,Birsen Karaman,Guven Toksoy,Sofie Symoens,Gokhan Yigit,Atil Yuksel,Seher Basaran,Beyhan Tuysuz,Umut Altunoglu,Zehra Oya Uyguner

FETAL DIAGNOSIS AND THERAPYno. 3 (2024): 285-299

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DISP1 Deficiency: Monoallelic and Biallelic Variants Cause a Spectrum of Midline Craniofacial Malformations

GENETICS IN MEDICINEno. 7 (2024)

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Recessive Mutations in SCNM1 Are a New Cause of Orofaciodigital Syndrome Due to Errors in Minor Intron Splicing Affecting Primary Cilia

Asier Iturrate,Ana Rivera-Barahona,Carmen-Lisset Flores, Ghada Aotaify,Rasha Elhossini,Marina L. Perez-Sanz,Julian Nevado,Jair Tenorio,Juan Carlos Trivino,Francesc R. Garcia-Gonzalo,Francesca Piceci-Sparascio,Alessandro De Luca, Leopoldo Martinez,Tugba Kalayci,Pablo Lapunzina,Umut Altunoglu,Mona Aglan,Ebtesam Abdalla,Victor Ruiz-Perez

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 532-532

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Nance-Horan Syndrome: Characterization of dental, clinical and molecular features in three new families

Yeliz Guven,Hilal Piril Saracoglu,Sermin Dicle Aksakal,Tugba Kalaycı,Umut Altunoglu,Zehra Oya Uyguner,Serpil Eraslan,Esra Borklu,Hülya Kayserili

Research Square (Research Square) (2023)

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