Biruté Burnyté (Birute Burnyte)

ORCID

Publication Activity (10 Years)

Years Active: 2022-2024
Publications (10 Years): 4

Top Venues

Journal of medical genetics

Human mutation

Neurology. Genetics

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)
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)
Biruté Burnyté, Ramune Vilimiene, Kristina Grigalionienė, Irina Adomaitiene, Algirdas Utkus
Cerebellar Ataxia and Peripheral Neuropathy in a Family With PNPLA8 -Associated Disease. Neurology. Genetics 9 (3) (2023)
Marlies Colman, Robin Vroman, Tibbe Dhooge, Zoë Malfait, Sofie Symoens, Biruté Burnyté, Sheela Nampoothiri, Ariana Kariminejad, Fransiska Malfait, Delfien Syx
Kyphoscoliotic Ehlers-Danlos syndrome caused by pathogenic variants in FKBP14: Further insights into the phenotypic spectrum and pathogenic mechanisms. Human mutation (2022)

Biruté Burnyté.css-eqlu8i{font-size:small;padding-left:4px;} (Birute Burnyte)

Publication Activity (10 Years)

Top Topics

Top Venues

Biruté Burnyté (Birute Burnyte)