Birsen Karaman - Istanbul Faculty of Medicine, Istanbul University

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论文共 179 篇作者统计合作学者相似作者

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Clinical and Molecular Analyses in 8 New Craniofrontonasal Syndrome Families: Revisiting the Mild End of the Phenotypic Spectrum in Females

Umut Altunoglu,Birsen Karaman,Yasemin Alanay, Ferda Perçin,Zehra Oya Uyguner,Hülya Kayserili

Turkish archives of pediatricsno. 2 (2025): 191-199

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MOWAT-WILSON SYNDROME: DEEP PHENOTYPING AND MOLECULAR CHARACTERISATION OF TWELVE NEW INDIVIDUALS

Umut Altunoglu,Nilay Gunes,Gozde Tutku Turgut,Tugba Kalayci,Ayca Dilruba Aslanger,Murat Derbent,Serpil Eraslan,Birsen Karaman,Zehra Oya Uyguner,Beyhan Tuysuz,Yasemin Alanay,Hulya Kayserili

JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISIno. 1 (2025): 26-37

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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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Genotype-Phenotype Correlation in Lipoid Proteinosis: 15 Cases from Turkiye

Firdevs Dincsoy Bir,Zehra Oya Uyguner,Birsen Karaman,Can Baykal,Nesimi Buyukbabani,Beyhan Tuysuz,Asuman Gedikbasi,Bulent Uyanik,Guven Toksoy,Bulent Kara,Hulya Kayserili

MOLECULAR SYNDROMOLOGY (2024)

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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 syndromologyno. 1 (2024): 69-76

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Kroni̇k Hastalığı Olan Çocukta Geneti̇k Danışmanlık

Asuman Gedikbaşı,Birsen Karaman

Kroni̇k Hastalığı Olan Çocuğun İzlemi̇ ve Toplumda Bakımpp.715-733, (2024)

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Investigation of Genes Responsible for Diaphragmatic Developmental Defects with Next Generation Sequencing Technologies

Somayyeh Heidargholizadeh,Cagri Gulec, Gulnihal Bulut,Gozde Tutku Turgut,Seher Basaran,Umut Altunoglu,Birsen Karaman

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 111-112

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Basic Helix-Loop-helix Transcription Factor BHLHE22 Monoallelic and Biallelic Variants Cause a Neurodevelopmental Disorder with Agenesis of the Corpus Callosum, Intellectual Disability, Tone and Movement Abnormalities

medRxiv the preprint server for health sciences (2024)

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Loss of IVNS1ABP, a Gigaxonin Paralogue, Leads to a Progeroid Neuropathy Due to Impaired Proteostasis

Carine Bonnard,Ain Nur Ali,Fang Yuan,Kiat Yi Tan, Yan Ting Lim, Puck Wee Chan, Nanthini Ramanathan, Nur Azkiah Binte Mohamad Kamsani, Vindhya Chaganty,Ding Xiong,Ye Sing Tan, Shu-Min Chou,Marwa Chourabi,Gunaseelan Narayanan,Alvin Yu Jin Ng,Sumanty Tohari,Meah Wee Yang,Birsen Karaman,Gozde Tutku Turgut,Emmanuelle Szenker-Ravi,Radoslaw Sobota,Zhuoyao Chen,Alex Bullock, Rajaa Tathallah,Umut Altunoglu,Venkatesh Byrappa,Ajay Sriram Mathuru,Mohammad Shboul,Su-Chun Zhang,Bruno REVERSADE

crossref（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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