Beyhan Tüysüz (Beyhan Tuysuz)

Publication Activity (10 Years)

Years Active: 2021-2024
Publications (10 Years): 23

Top Topics

Intellectual Disability

Total Hip Arthroplasty

Top Venues

American journal of medical genetics. Part A

Journal of medical genetics

Clinical genetics

Turkish archives of pediatrics

This page only lists publications with an associated author ORCID identifier.

Publications

Umut Altunoglu, Adrian Palencia-Campos, Nilay Güneş, Gozde Tutku Turgut, Julian Nevado, Pablo Lapunzina, Maria Valencia, Asier Iturrate, Ghada Otaify, Rasha Elhossini, Adel Ashour, Asmaa K Amin, Rania F Elnahas, Elisa Fernandez-Nuñez, Carmen-Lisset Flores, Pedro Arias, Jair Tenorio, Carlos Israel Chamorro Fernández, Yeliz Güven, Elif Özsu, Beray Selver Eklioğlu, Marisol Ibarra-Ramirez, Birgitte Rode Diness, Biruté Burnyté, Houda Ajmi, Zafer Yüksel, Ruken Yıldırım, Edip Ünal, Ebtesam Abdalla, Mona Aglan, Hulya Kayserili, Beyhan Tüysüz, Victor Ruiz-Pérez
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 genetics 61 (7) (2024)
Dilek Uludağ Alkaya, Hasan Emir Taner, Timur Yıldırım, Evren Akpınar, Beyhan Tüysüz
Further characterization of ARSK-related mucopolysaccharidosis type 10. American journal of medical genetics. Part A (2024)
Dilek Uludağ Alkaya, Hasan Emir Taner, Timur Yıldırım, Evren Akpınar, Beyhan Tüysüz
Further characterization of ARSK-related mucopolysaccharidosis type 10. American journal of medical genetics. Part A 194 (8) (2024)
Umut Altunoglu, Adrian Palencia-Campos, Nilay Güneş, Gozde Tutku Turgut, Julian Nevado, Pablo Lapunzina, Maria Valencia, Asier Iturrate, Ghada Otaify, Rasha Elhossini, Adel Ashour, Asmaa K Amin, Rania F Elnahas, Elisa Fernandez-Nuñez, Carmen-Lisset Flores, Pedro Arias, Jair Tenorio, Carlos Israel Chamorro Fernández, Yeliz Güven, Elif Özsu, Beray Selver Eklioğlu, Marisol Ibarra-Ramirez, Birgitte Rode Diness, Biruté Burnyté, Houda Ajmi, Zafer Yüksel, Ruken Yıldırım, Edip Ünal, Ebtesam Abdalla, Mona Aglan, Hulya Kayserili, Beyhan Tüysüz, Victor Ruiz-Pérez
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 genetics (2024)
Dilek Uludağ Alkaya, Hasan Emir Taner, Timur Yıldırım, Evren Akpınar, Beyhan Tüysüz
Further characterization of ARSK-related mucopolysaccharidosis type 10. American journal of medical genetics. Part A 194 (8) (2024)
Dilek Uludağ Alkaya, Hasan Emir Taner, Timur Yıldırım, Evren Akpınar, Beyhan Tüysüz
Further characterization of ARSK-related mucopolysaccharidosis type 10. American journal of medical genetics. Part A 194 (8) (2024)
Aylin Yüksel Ülker, Dilek Uludağ Alkaya, Ahmet Okay Çağlayan, Esra Usluer, Ayça Aykut, Ayça Aslanger, Mehmet Vural, Beyhan Tüysüz
An investigation of the etiology and follow-up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant. American journal of medical genetics. Part A (2023)
Zeineb Bakey, Oscar A Cabrera, Julia Hoefele, Dinu Antony, Kaman Wu, Michael W Stuck, Dimitra Micha, Thibaut Eguether, Abigail O Smith, Nicole N van der Wel, Matias Wagner, Lara Strittmatter, Philip L Beales, Julie A Jonassen, Isabelle Thiffault, Maxime Cadieux-Dion, Laura Boyes, Saba Shariff, Beyhan Tüysüz, Desiree Dunstheimer, Hans W M Niessen, William Devine, Cecelia W Lo, Hannah M Mitchison, Miriam Schmidts, Gregory J Pazour
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans. medRxiv : the preprint server for health sciences (2023)
Gokcen Karamik, Beyhan Tüysüz, Esra Isik, Aysegul Yilmaz, Yasemin Alanay, Evrim Cifci Sunamak, Enise Avci Durmusalioglu, Ferda Özkınay, Gökhan Ozan Çetin, Nuray Ozturk, Ercan Mihci, Banu Nur
The clinical phenotype of Koolen-de Vries syndrome in Turkish patients and literature review. American journal of medical genetics. Part A (2023)
Beyhan Tüysüz, Dilek Uludag Alkaya, Filiz Geyik, Merve Alaylıoğlu, Busra Kasap, Sebuh Kurugoğlu, Yunus Emre Akman, Mehmet Vural, Kaya Bilguvar
Biallelic frameshift variants in PHLDB1 cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changes. Journal of medical genetics (2022)
Didem Kaymak, Verda Alpay, Ebru Alıcı Davutoğlu, Oguzhan Elçi, Aysel Kalaycı Yiğin, Beyhan Tüysüz, Riza Madazlı
Gillessen-Kaesbach-Nishimura syndrome in two fetuses from Turkey. American journal of medical genetics. Part A (2022)
Ezgi Mollaoğlu, Dilek Uludağ Alkaya, Ceren Ayça Yıldız, Buşra Kasap, Beyhan Tüysüz
Natural history of clinical features in two brothers with acromesomelic dysplasia related to PRKG2. Clinical genetics (2022)
Dilek Uludağ Alkaya, Ozgur Kasapcopur, Ayşegül Bursalı, Amra Adrovic, Bilal Demir, Ayça Aykut, Beyhan Tüysüz
Specific early signs and long-term follow-up findings of progressive pseudorheumatoid dysplasia (PPRD) in the Turkish cohort. Rheumatology (Oxford, England) 61 (9) (2022)
Nur Canpolat, Dingxiao Liu, Emine Atayar, Seha Kamil Saygili, Nazli Sila Kara, Trudi A Westfall, Qiong Ding, Bartley J Brown, Terry A Braun, Diane C Slusarski, Kader Karlı Oğuz, Yasemin Ozluk, Beyhan Tüysüz, Tugba Tastemel Ozturk, Fatma Lale Sever, Osman Ugur Sezerman, Rezan Topaloğlu, Salim Caliskan, Massimo Attanasio, Fatih Ozaltin
A splice site mutation in the TSEN2 causes a new syndrome with craniofacial and central nervous system malformations, and atypical hemolytic uremic syndrome. Clinical genetics 101 (3) (2022)
Esra Usluer, Gözde Yeşil Sayın, Nilay Güneş, Buşra Kasap, Beyhan Tüysüz
Investigation of genetic and phenotypic heterogeneity in 37 Turkish patients with Kabuki and Kabuki-like phenotype. American journal of medical genetics. Part A 188 (10) (2022)
Dilek Uludağ Alkaya, Zehra Oya Uyguner, Nilay Güneş, Beyhan Tüysüz
Long-term follow-up findings in a Turkish girl with osteogenesis imperfecta type XX caused by a homozygous MESD variant. American journal of medical genetics. Part A 188 (5) (2022)
Dilek Uludağ Alkaya, Christina Lissewski, Gözde Yeşil, Martin Zenker, Beyhan Tüysüz
Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1, RAF1, RIT1 variants, and large deletion in NF1. American journal of medical genetics. Part A 185 (12) (2021)
Aydilek Dagdeviren Cakir, Firdevs Baş, Onur Akın, Zeynep Şiklar, Mesut Dursun, Merih Berberoğlu, Asli Derya Kardelen Al, Elvan Bayramoğlu, Şükran Poyrazoğlu, Hasan Murat Aydın, Ayça Törel Ergür, Ruhsar Damla Gökşen Şimşek, Semih Bolu, Zehra Aycan, Beyhan Tüysüz, Oya Ercan, Saadet Olcay Evliyaoglu
Clinical Characteristics and Growth Hormone Treatment in Patients with Prader-Willi Syndrome Journal of clinical research in pediatric endocrinology 13 (3) (2021)
Dilek Uludağ Alkaya, Evren Akpınar, Kaya Bilguvar, Beyhan Tüysüz
Resolution of sclerotic lesions of dysosteosclerosis due to biallelic SLC29A3 variant in a Turkish girl. American journal of medical genetics. Part A 185 (7) (2021)
Beyhan Tüysüz, Nilay Güneş, Filiz Geyik, Gözde Yeşil, Tiraje Celkan, Mehmet Vural
Investigation of (epi)genotype causes and follow-up manifestations in the patients with classical and atypical phenotype of Beckwith-Wiedemann spectrum. American journal of medical genetics. Part A 185 (6) (2021)
Aylin Yüksel Ülker, Dilek Uludağ Alkaya, Leyla Elkanova, Ali Şeker, Evren Akpınar, Nurten Ayşe Akarsu, Zehra Oya Uyguner, Beyhan Tüysüz
Long-Term Follow-Up Outcomes of 19 Patients with Osteogenesis Imperfecta Type XI and Bruck Syndrome Type I Caused by FKBP10 Variants. Calcified tissue international 109 (6) (2021)
Ayşe Gonca Kaçar, Burcu Kılınç Oktay, Simge Çınar Özel, Süheyla Ocak, Nilay Güneş, Dilek Uludağ Alkaya, Beyhan Tüysüz, Hilmi Apak, Tülin Tiraje Celkan
Neurofibromatosis Type 1 in Children: A Single-Center Experience. Turkish archives of pediatrics 56 (4) (2021)
Ezgi Gizem Berkay, Leyla Elkanova, Tuğba Kalaycı, Dilek Uludağ Alkaya, Umut Altunoglu, Kıvanç Cefle, Ercan Mıhçı, Banu Nur, Elifcan Taşdelen, Zuhal Bayramoğlu, Volkan Karaman, Güven Toksoy, Nilay Güneş, Şükrü Öztürk, Şükrü Palandüz, Hülya Kayserili, Beyhan Tüysüz, Zehra Oya Uyguner
Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey. American journal of medical genetics. Part A 185 (8) (2021)