ITGB4-Related pyloric atresia without epidermolysis in two siblings

Autor: Aliyeva, Lamiya, Beken, Serdar, Mancilar, Hanifenur, Albayrak, Eda, Korkmaz, Ayse, Tander, Burak, Alanay, Yasemin

Publikováno v: In European Journal of Medical Genetics December 2024 72

Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects

Autor: Chong, Jessica X., Childers, Matthew Carter, Marvin, Colby T., Marcello, Anthony J., Gonorazky, Hernan, Hazrati, Lili-Naz, Dowling, James J., Al Amrani, Fatema, Alanay, Yasemin, Nieto, Yolanda, Gabriel, Miguel Á Marín, Aylsworth, Arthur S., Buckingham, Kati J., Shively, Kathryn M., Sommers, Olivia, Anderson, Kailyn, Regnier, Michael, Bamshad, Michael J.

Publikováno v: In Human Genetics and Genomics Advances June 2023

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Real-world evidence in achondroplasia: considerations for a standardized data set.

Autor: Alanay, Yasemin¹ (AUTHOR) yasemin.alanay@acibadem.edu.tr, Mohnike, Klaus² (AUTHOR), Nilsson, Ola^3,4,5 (AUTHOR), Alves, Inês⁶ (AUTHOR), AlSayed, Moeenaldeen^7,8 (AUTHOR), Appelman-Dijkstra, Natasha M.⁹ (AUTHOR), Baujat, Genevieve¹⁰ (AUTHOR), Ben-Omran, Tawfeg¹¹ (AUTHOR), Breyer, Sandra¹² (AUTHOR), Cormier-Daire, Valerie^10,13 (AUTHOR), Gregersen, Pernille Axél¹⁴ (AUTHOR), Guillén-Navarro, Encarna¹⁵ (AUTHOR), Högler, Wolfgang¹⁶ (AUTHOR), Maghnie, Mohamad^17,18 (AUTHOR), Mukherjee, Swati¹⁹ (AUTHOR), Cohen, Shelda¹⁹ (AUTHOR), Pimenta, Jeanne¹⁹ (AUTHOR), Selicorni, Angelo²⁰ (AUTHOR), Semler, J. Oliver^21,22 (AUTHOR), Sigaudy, Sabine²³ (AUTHOR)

Publikováno v: Orphanet Journal of Rare Diseases. 6/26/2023, Vol. 18 Issue 1, p1-9. 9p.