Zobrazeno 1 - 10
of 2 357
pro vyhledávání: '"Alanay, A."'
Autor:
Liselot van der Laan, Ananília Silva, Lotte Kleinendorst, Kathleen Rooney, Sadegheh Haghshenas, Peter Lauffer, Yasemin Alanay, Pratibha Bhai, Alfredo Brusco, Sonja de Munnik, Bert B.A. de Vries, Angelica Delgado Vega, Marc Engelen, Johanna C. Herkert, Ron Hochstenbach, Saskia Hopman, Sarina G. Kant, Ryutaro Kira, Mitsuhiro Kato, Boris Keren, Hester Y. Kroes, Michael A. Levy, Ngu Lock-Hock, Saskia M. Maas, Grazia M.S. Mancini, Carlo Marcelis, Naomichi Matsumoto, Takeshi Mizuguchi, Alessandro Mussa, Cyril Mignot, Anu Närhi, Ann Nordgren, Rolph Pfundt, Abeltje M. Polstra, Slavica Trajkova, Yolande van Bever, Marie José van den Boogaard, Jasper J. van der Smagt, Tahsin Stefan Barakat, Mariëlle Alders, Marcel M.A.M. Mannens, Bekim Sadikovic, Mieke M. van Haelst, Peter Henneman
Publikováno v:
HGG Advances, Vol 6, Iss 1, Pp 100380- (2025)
Summary: Neurodevelopmental disorder with or without autism or seizures (NEDAUS) is a neurodevelopmental disorder characterized by global developmental delay, speech delay, seizures, autistic features, and/or behavior abnormalities. It is caused by C
Externí odkaz:
https://doaj.org/article/4d2c1e6771da43cd9a0c73ae48b1b4d3
Autor:
Bengisu Guner Yilmaz, Ozlem Akgun-Dogan, Ozkan Ozdemir, Bayram Yuksel, Ozden Hatirnaz Ng, Kaya Bilguvar, Beril Ay, Gulsah Sebnem Ozkose, Eylul Aydin, Ayca Yigit, Aybike Bulut, Fatma Nisa Esen, Serdar Beken, Selma Aktas, Atalay Demirel, Baran Cengiz Arcagok, Ebru Kazanci, İbrahim Bingol, Ozge Umur, Guntulu Sik, Ugur Isik, Melike Ersoy, Ayse Korkmaz, Agop Citak, Adil Mardinoglu, Ugur Ozbek, Yasemin Alanay
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
IntroductionRare and ultra-rare genetic conditions significantly contribute to infant morbidity and mortality, often presenting with atypical features and genetic heterogeneity that complicate management. Rapid genome sequencing (RGS) offers a timely
Externí odkaz:
https://doaj.org/article/09a390dd2ca34c80943a1799cdb86d67
Autor:
van der Laan, Liselot, Silva, Ananília, Kleinendorst, Lotte, Rooney, Kathleen, Haghshenas, Sadegheh, Lauffer, Peter, Alanay, Yasemin, Bhai, Pratibha, Brusco, Alfredo, de Munnik, Sonja, de Vries, Bert B.A., Vega, Angelica Delgado, Engelen, Marc, Herkert, Johanna C., Hochstenbach, Ron, Hopman, Saskia, Kant, Sarina G., Kira, Ryutaro, Kato, Mitsuhiro, Keren, Boris, Kroes, Hester Y., Levy, Michael A., Lock-Hock, Ngu, Maas, Saskia M., Mancini, Grazia M.S., Marcelis, Carlo, Matsumoto, Naomichi, Mizuguchi, Takeshi, Mussa, Alessandro, Mignot, Cyril, Närhi, Anu, Nordgren, Ann, Pfundt, Rolph, Polstra, Abeltje M., Trajkova, Slavica, van Bever, Yolande, José van den Boogaard, Marie, van der Smagt, Jasper J., Barakat, Tahsin Stefan, Alders, Mariëlle, Mannens, Marcel M.A.M., Sadikovic, Bekim, van Haelst, Mieke M., Henneman, Peter
Publikováno v:
In Human Genetics and Genomics Advances 9 January 2025 6(1)
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
Autor:
Ozlem Akgun-Dogan, Ecenur Tuc Bengur, Beril Ay, Gulsah Sebnem Ozkose, Emre Kar, Fuat Baris Bengur, Aybike S. Bulut, Ayca Yigit, Eylul Aydin, Fatma Nisa Esen, Ozkan Ozdemir, Ahmet Yesilyurt, Yasemin Alanay
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Background: Pediatric patients with undiagnosed conditions, particularly those suspected of having Mendelian genetic disorders, pose a significant challenge in healthcare. This study investigates the diagnostic yield of whole-genome sequencing (WGS)
Externí odkaz:
https://doaj.org/article/fbfb26af32114dc3a7672dd93e05d909
Autor:
Abul, Kadir, Yilgor, Caglar, Yucekul, Altug, Alanay, Nezih Arin, Yavuz, Yasemin, Zulemyan, Tais, Boissiere, Louis, Bourghli, Anouar, Obeid, Ibrahim, Pizones, Javier, Kleinstueck, Frank, Perez-Grueso, Francisco J.S., Pellise, Ferran, Alanay, Ahmet
Publikováno v:
In The Spine Journal February 2023 23(2):209-218
Autor:
Haddad, Sleiman, Yilgor, Caglar, Jacobs, Eva, Vila, Lluis, Nuñez-Pereira, Susana, Ramirez Valencia, Manuel, Pupak, Anika, Barcheni, Maggie, Pizones, Javier, Alanay, Ahmet, Kleinstuck, Frank, Obeid, Ibrahim, Pellisé, Ferran
Publikováno v:
In The Spine Journal September 2024
Autor:
Yasemin Alanay, Klaus Mohnike, Ola Nilsson, Inês Alves, Moeenaldeen AlSayed, Natasha M. Appelman-Dijkstra, Genevieve Baujat, Tawfeg Ben-Omran, Sandra Breyer, Valerie Cormier-Daire, Pernille Axél Gregersen, Encarna Guillén-Navarro, Wolfgang Högler, Mohamad Maghnie, Swati Mukherjee, Shelda Cohen, Jeanne Pimenta, Angelo Selicorni, J. Oliver Semler, Sabine Sigaudy, Dmitry Popkov, Ian Sabir, Susana Noval, Marco Sessa, Melita Irving
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)
Abstract Background Collection of real-world evidence (RWE) is important in achondroplasia. Development of a prospective, shared, international resource that follows the principles of findability, accessibility, interoperability, and reuse of digital
Externí odkaz:
https://doaj.org/article/ce49780aedce497cb9c4ad067e8be933
Autor:
Baris Balaban, Caglar Yilgor, Altug Yucekul, Tais Zulemyan, Ibrahim Obeid, Javier Pizones, Frank Kleinstueck, Francisco Javier Sanchez Perez-Grueso, Ferran Pellise, Ahmet Alanay, Osman Ugur Sezerman
Publikováno v:
Informatics in Medicine Unlocked, Vol 50, Iss , Pp 101583- (2024)
Externí odkaz:
https://doaj.org/article/4961f2a4bc0c460abfccd1e020ab19da
Autor:
A. Bourghli, D. Larrieu, A. Baroncini, J. Pizones, F. Pellise, F. Kleinstück, A. Alanay, L. Boissiere, I. Obeid
Publikováno v:
Brain and Spine, Vol 4, Iss , Pp 102936- (2024)
Externí odkaz:
https://doaj.org/article/2af6382c9ae947849d6bea8fe9c27051