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Beyhan Tüysüz

Istanbul University-Cerrahpaşa

44H指数
257论文数
7.6K被引数
收录论文 63
发表时间
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Insight into Essential and Complex Autism Spectrum Disorders: Clinical Characteristics, Chromosomal Microarray Analysis, and Risk Factors对核心与复杂自闭症谱系障碍的洞察：临床特征、染色体微阵列分析和风险因素
errGenes
IF2.8
err2026-09-21
err0
errOAAI
errBeyhan Tüysüz; Evrim Çifçi Sunamak; Gizem Durcan; Birol Öztürk; Dilek Uludağ Alkaya; Hazal Cansu Çulpan; Mehmet Barış Korkmaz; Burak Doğangün; Ertuğrul Kıykım
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Age- and sex-specific serum creatinine reference curves in children and adolescents with Down syndrome唐氏综合征儿童和青少年年龄和性别特异性血清肌酐参考曲线
errEuropean Journal of Pediatrics
IF2.6
err2026-09-16
err0
PREAI
errKutlay Gür; Seha Saygılı; Nilay Güneş; Dilek Uludağ Alkaya; Nilüfer Göknar; Birol Öztürk; Hazal Cansu Çulpan; Hilal Onur; Salih Türk; Esra Karabağ Yılmaz; Ayşe Ağbaş; Nur Canpolat; Beyhan Tüysüz
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Acromelic dysplasias: similarities and differences in clinical and molecular findings in 12 Turkish patients肢端异常发育不良：12例土耳其患者临床和分子发现的相似性与差异性
errEuropean Journal of Pediatrics
IF2.6
err2026-05-19
err0
errOAAI
errN. Güneş; S. Türk; H. Onur; K. Gür; C. Yüksel Elgin; E. Çifçi Sunamak; D. Uludağ Alkaya; A. Güler Eroğlu; B. Tüysüz
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Elucidating the Genetic Landscape, Phenotypic Spectrum, and Pathogenic Mechanisms in a Turkish Cohort with Primary Microcephaly揭示土耳其原发性小头畸形队列的遗传景观、表型谱及致病机制
errClinical Genetics
IF2.3
err2026-05-15
err0
PREAI
errBeyhan Tüysüz; Ahmet Okay Çağlayan; Büşra Kasap; Dilek Uludağ Alkaya; Nilay Güneş; Hüseyin Kılıç; Sema Saltık; Ahmet Veysi Demirbilek; Naci Koçer; Cengiz Yalçınkaya
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The Clinical and Molecular Spectrum of Turkish Patients with Syndromic Craniosynostosis: A Single Center Study土耳其综合征性颅缝早闭患者的临床与分子谱：一项单中心研究
errTurkish Archives of Pediatrics
IF1.7
err2026-05-01
err0
PREAI
errOnur, Hilal; Alkaya, Dilek Uludag; Kafadar, Ali Metin; Tahmazoglu, Burak; Aykut, Ayca; Aydin, Yagmur; Gunes, Nilay; Tuysuz, Beyhan
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Long-Term Follow-Up of a Patient with a Novel Homozygous ASTN1 Variant: A Case Report新型纯合ASTN1变异患者长期随访：病例报告
errNeurology International
IF3
err2026-04-19
err0
errOAAI
errBuşra Kasap; Dilek Uludağ Alkaya; Nilay Güneş; Salih Türk; Barış Korkmaz; Beyhan Tüysüz
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Similarities and Differences of Multiple Epiphyseal Dysplasias: Genetic Features and Natural Course in 22 Patients多骨骺发育不良的相似性与差异性：22例患者的遗传特征与自然病程
errGenes
IF2.8
err2026-04-15
err0
errOAAI
errHasan Emir Taner; Dilek Uludağ Alkaya; Ayşe Kalyoncu Uçar; Ali Şeker; Tuncay Centel; Timur Yıldırım; Nilay Güneş; Beyhan Tüysüz
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Molecular Spectrum and Deep Phenotyping of a Turkish Joubert Syndrome Cohort, Including a Potential Candidate Gene, NPHP4土耳其Joubert综合征群体的分子谱和深度表型分析，包括一个潜在的候选基因NPHP4
errTurkish Archives of Pediatrics
IF1.7
err2026-02-01
err0
PREAI
errTurk, Salih; Gunes, Nilay; Gok, Anil; Sengenc, Esma; Demirbilek, Veysi; Kasap, Busra; Arslan, Serdar; Alkaya, Dilek Uludag; Gur, Kutlay; Islak, Civan; Saltik, Sema; Kara, Bulent; Yalcinkaya, Cengiz; Tuysuz, Beyhan
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Elucidating the impact of a synonymous SEC24D variant on aberrant splicing in a patient with cole-carpenter syndrome 2阐明SEC24D同义变异对Cole-Carpenter综合征2型患者异常剪接的影响
errJournal of Human Genetics
IF2.5
err2025-11-05
err0
PREAI
errSuzan Süncak; Beyhan Tüysüz; Ravza Nur Yıldırım; Semra Gürsoy; Dilek Uludağ Alkaya; Ayhan Abacı; Emre Özzeybek; Tuğçe Batur; İnci Yaprak; Evin İşcan; Özlem Giray Bozkaya
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Cell Trafficking Disorders Play an Important Role in the Pathogenesis of Skeletal Dysplasias
errTURKISH ARCHIVES OF PEDIATRICS
IF1.7
err2025-11-01
err0
PREAI
errTuysuz, Beyhan
err分享
err收藏
Insights into Natural History, Phenotypic, and Molecular Spectrum in a Large Cohort of Osteosclerotic Disorders
errCALCIFIED TISSUE INTERNATIONAL
IF3.2
err2025-04-08
err0
errOAAI
errAlkaya, Dilek Uludag; Usluer, Esra; Unkar, Zeynep Alp; Seker, Ali; Adaletli, Ibrahim; Gunes, Nilay; Madazli, Riza; Kadioglu, Pinar; Derbent, Murat; Tuysuz, Beyhan
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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
errJOURNAL OF MEDICAL GENETICS
IF3.7
err2024-03-26
err1
PREAI
errAltunoglu, Umut; Palencia-Campos, Adrian; Gunes, Nilay; Turgut, Gozde Tutku; Nevado, Julian; Lapunzina, Pablo; Valencia, Maria; Iturrate, Asier; Otaify, Ghada; Elhossini, Rasha; Ashour, Adel; K. Amin, Asmaa; Elnahas, Rania F.; Fernandez-Nunez, Elisa; Flores, Carmen-Lisset; Arias, Pedro; Tenorio, Jair; Chamorro Fernandez, Carlos Israel; Guven, Yeliz; Ozsu, Elif; Eklioglu, Beray Selver; Ibarra-Ramirez, Marisol; Diness, Birgitte Rode; Burnyte, Birute; Ajmi, Houda; Yuksel, Zafer; Yildirim, Ruken; Unal, Edip; Abdalla, Ebtesam; Aglan, Mona; Kayserili, Hulya; Tuysuz, Beyhan; Ruiz-Perez, Victor
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The molecular spectrum of Turkish osteopetrosis and related osteoclast disorders with natural history, including a candidate gene, CCDC120
errBONE
IF3.6
err2023-12-01
err4
PREAI
errTuysuz, Beyhan; Usluer, Esra; Alkaya, Dilek Uludag; Ocak, Suheyla; Saygili, Seha; Seker, Ali; Apak, Hilmi
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IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humansIFT74变体导致小鼠和人类的骨骼纤毛病和运动纤毛缺陷
errPLOS GENETICS
IF3.7
err2023-06-14
err9
errOAAI
errBakey, Zeineb; Cabrera, Oscar A.; Hoefele, Julia; Antony, Dinu; Wu, Kaman; Stuck, Michael W.; Micha, Dimitra; Eguether, Thibaut; Smith, Abigail O.; van der Wel, Nicole N.; Wagner, Matias; Strittmatter, Lara; Beales, Philip L.; Jonassen, Julie A.; Thiffault, Isabelle; Cadieux-Dion, Maxime; Boyes, Laura; Sharif, Saba; Tuysuz, Beyhan; Dunstheimer, Desiree; Niessen, Hans W. M.; Devine, William; Lo, Cecilia W.; Mitchison, Hannah M.; Schmidts, Miriam; Pazour, Gregory J.
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Clinical features of generalized lipodystrophy in Turkey: A cohort analysis
errDIABETES OBESITY & METABOLISM
IF5.7
err2023-04-11
err11
errOAAI
errYildirim Simsir, Ilgin; Tuysuz, Beyhan; Ozbek, Mehmet Nuri; Tanrikulu, Seher; Celik Guler, Merve; Karhan, Asuman Nur; Denkboy Ongen, Yasemin; Gunes, Nilay; Soyaltin, Utku Erdem; Altay, Canan; Nur, Banu; Ozalkak, Servan; Akgun Dogan, Ozlem; Dursun, Fatma; Pekkolay, Zafer; Eren, Mehmet Ali; Usta, Yusuf; Ozisik, Secil; Ozgen Saydam, Basak; Adiyaman, Suleyman Cem; Unal, Mehmet Cagri; Gungor Semiz, Gokcen; Turan, Ihsan; Eren, Erdal; Kayserili, Hulya; Jeru, Isabelle; Vigouroux, Corinne; Atik, Tahir; Onay, Huseyin; Ozen, Samim; Arioglu Oral, Elif; Akinci, Baris
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Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants
errBONE
IF3.6
err2023-02-01
err0
PREAI
errTuysuz, Beyhan; Kasap, Busra; Saritas, Merve; Alkaya, Dilek Uludag; Bozlak, Serdar; Kiykim, Ayca; Durmaz, Asude; Yildirim, Timur; Akpinar, Evren; Apak, Hilmi; Vural, Mehmet
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Early Diagnostic Signs and the Natural History of Typical Findings in Cohen Syndrome
errJOURNAL OF PEDIATRICS
IF3.5
err2023-01-01
err4
PREAI
errGunes, Nilay; Alkaya, Dilek Uludag; Demirbilek, Veysi; Yalcinkaya, Cengiz; Tuysuz, Beyhan
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Biallelic frameshift variants in PHLDB1 cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changes
errJOURNAL OF MEDICAL GENETICS
IF3.7
err2022-12-21
err3
PREAI
errTuysuz, Beyhan; Alkaya, Dilek Uludag; Geyik, Filiz; Alaylioglu, Merve; Kasap, Busra; Kurugoglu, Sebuh; Akman, Yunus Emre; Vural, Mehmet; Bilguvar, Kaya
err分享
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Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract
errKIDNEY INTERNATIONAL
IF12.6
err2022-05-01
err11
errOAAI
errMuench, Johannes; Engesser, Marie; Schoenauer, Ria; Hamm, J. Austin; Hartig, Christin; Hantmann, Elena; Akay, Gulsen; Pehlivan, Davut; Mitani, Tadahiro; Akdemir, Zeynep Coban; Tuysuz, Beyhan; Shirakawa, Toshihiko; Dateki, Sumito; Claus, Laura R.; van Eerde, Albertien M.; Smol, Thomas; Devisme, Louise; Franquet, Helene; Attie-Bitach, Tania; Wagner, Timo; Bergmann, Carsten; Hoehn, Anne Kathrin; Shril, Shirlee; Pollack, Ari; Wenger, Tara; Scott, Abbey A.; Paolucci, Sarah; Buchan, Jillian; Gabriel, George C.; Posey, Jennifer E.; Lupski, James R.; Petit, Florence; McCarthy, Andrew A.; Pazour, Gregory J.; Lo, Cecilia W.; Popp, Bernt; Halbritter, Jan
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Osteogenesis imperfecta in 140 Turkish families: Molecular spectrum and, comparison of long-term clinical outcome of those with COL1A1/A2 and biallelic variants
errBONE
IF3.6
err2022-02-01
err11
PREAI
errTuysuz, Beyhan; Elkanova, Leyla; Alkaya, Dilek Uludag; Gulec, Cagri; Toksoy, Guven; Gunes, Nilay; Yazan, Hakan; Bayhan, A. Ilhan; Yildirim, Timur; Yesil, Gozde; Uyguner, Z. Oya
err分享
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研究方向

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合作学者
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