학술논문
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'학술논문'
에서 검색결과 50건 | 목록
1~20
Academic Journal
Mukhtar Ullah; Atta Ur Rehman; Mathieu Quinodoz; Abdur Rashid; Francesca Cancellieri; Asad Munir; Karolina Kaminska; Afia Iqbal; Samra Javed; Muhammad Dawood; Hafiz Muhammad Azhar Baig; Shamim Saleha; Shagufta Naz; Humera Kausar; Ali Muhammad Waryah; Andrea Superti-Furga; Muhammad Ansar; Carlo Rivolta
npj Genomic Medicine, Vol 10, Iss 1, Pp 1-11 (2025)
Academic Journal
Andrea Zanetti; Gwendal Dujardin; Lucas Fares-Taie; Jeanne Amiel; Jérôme E. Roger; Isabelle Audo; Matthieu P. Robert; Pierre David; Vincent Jung; Nicolas Goudin; Ida Chiara Guerrera; Stéphanie Moriceau; Danielle Amana; Nurit Assia Batzir; Anat Bachar-Zipori; Lina Basel Salmon; Nathalie Boddaert; Sylvain Briault; Ange-Line Bruel; Christine Costet-Fighiera; Luisa Coutinho Santos; Cyril Gitiaux; Karolina Kaminska; Paul Kuentz; Naama Orenstein; Nicole Philip-Sarles; Morgane Plutino; Mathieu Quinodoz; Cristina Santos; Sabine Sigaudy; Mariana Soeiro e Sá; Efrat Sofrin; Ana Berta Sousa; Rui Sousa-Luis; Christel Thauvin-Robinet; Erwin L. van Dijk; Khaoula Zaafrane-Khachnaoui; Dinah Zur; Josseline Kaplan; Carlo Rivolta; Jean-Michel Rozet; Isabelle Perrault
Nature Communications, Vol 15, Iss 1, Pp 1-20 (2024)
Academic Journal
Giovanni Marco Conti; Francesca Cancellieri; Mathieu Quinodoz; Karolina Kaminska; Veronika Vaclavik; Carlo Rivolta; Hoai Viet Tran
Case Reports in Ophthalmology, Vol 15, Iss 1, Pp 230-237 (2024)
Academic Journal
Béatrice Bocquet; Caroline Borday; Nejla Erkilic; Daria Mamaeva; Alicia Donval; Christel Masson; Karine Parain; Karolina Kaminska; Mathieu Quinodoz; Irene Perea-Romero; Gema Garcia-Garcia; Carla Jimenez-Medina; Hassan Boukhaddaoui; Arthur Coget; Nicolas Leboucq; Giacomo Calzetti; Stefano Gandolfi; Antonio Percesepe; Valeria Barili; Vera Uliana; Marco Delsante; Francesca Bozzetti; Hendrik P.N. Scholl; Marta Corton; Carmen Ayuso; Jose M. Millan; Carlo Rivolta; Isabelle Meunier; Muriel Perron; Vasiliki Kalatzis
JCI Insight, Vol 8, Iss 21 (2023)
Academic Journal
Annales Universitatis Paedagogicae Cracoviensis. Studia Historicolitteraria, Vol 22 (2022)
Academic Journal
Brain Sciences, Vol 13, Iss 5, p 808 (2023)
Academic Journal
Molecules, Vol 26, Iss 17, p 5166 (2021)
Academic Journal
ARKIVOC, Vol 2017, Iss 2, Pp 162-172 (2016)
Academic Journal
Mahzeiar Samadaei; Matthias Pinter; Daniel Senfter; Sibylle Madlener; Nataliya Rohr-Udilova; Dominika Iwan; Karolina Kamińska; Elżbieta Wojaczyńska; Jacek Wojaczyński; Andrzej Kochel
Molecules, Vol 25, Iss 10, p 2355 (2020)
Academic Journal
Case Reports in Dermatology, Vol 5, Iss 2, Pp 203-209 (2013)
Academic Journal
Agnieszka Włodarczyk; Lidia Sonakowska; Karolina Kamińska; Angelika Marchewka; Grażyna Wilczek; Piotr Wilczek; Sebastian Student; Magdalena Rost-Roszkowska
PLoS ONE, Vol 12, Iss 3, p e0173563 (2017)
Academic Journal
Lidia Sonakowska; Agnieszka Włodarczyk; Izabela Poprawa; Marcin Binkowski; Joanna Śróbka; Karolina Kamińska; Michalina Kszuk-Jendrysik; Łukasz Chajec; Bartłomiej Zajusz; Magdalena Maria Rost-Roszkowska
PLoS ONE, Vol 10, Iss 5, p e0126900 (2015)
Academic Journal
Carlo Rivolta; Elifnaz Celik; Dhryata Kamdar; Francesca Cancellieri; Karolina Kaminska; Mukhtar Ullah; Pilar Barberán-Martínez; Manon Bouckaert; Marta Cortón; Emma Delanote; Lidia Fernández-Caballero; Gema García García; Lara K. Holtes; Marianthi Karali; Irma Lopez; Virginie G. Peter; Nina Schneider; Lieselot Vincke; Carmen Ayuso; Sandro Banfi; Beatrice Bocquet; Frauke Coppieters; Frans P.M. Cremers; Chris F. Inglehearn; Takeshi Iwata; Vasiliki Kalatzis; Robert K. Koenekoop; José M. Millán; Dror Sharon; Carmel Toomes; Mathieu Quinodoz
The American Journal of Human Genetics. 112:2253-2265
Academic Journal
Julio C Corral-Serrano; Veronika Vaclavik; Stijn Van de Sompele; Karolina Kaminska; Katarina Jovanovic; Pascal Escher; Filip Van den Broeck; Francesca Cancellieri; Vasileios Toulis; Bart P Leroy; Julie de Zaeytijd; Zhixuan You; Daniele Ottaviani; Mathieu Quinodoz; Gabriela Bordeanu; Alison J Hardcastle; Frauke Coppieters; Viet H Tran; Michael E Cheetham; Carlo Rivolta; Elfride De Baere
Hum Mol Genet
Human molecular genetics, vol. 34, no. 9, pp. 821-834
HUMAN MOLECULAR GENETICS
Human molecular genetics, vol. 34, no. 9, pp. 821-834
HUMAN MOLECULAR GENETICS
Academic Journal
Marianthi Karali; Gema García-García; Karolina Kaminska; Alaa AlTalbishi; Francesca Cancellieri; Francesco Testa; Maria Rosaria Barillari; Evangelia S. Panagiotou; George Psillas; Veronika Vaclavik; Viet H. Tran; Lucas Janeschitz-Kriegl; Hendrik PN Scholl; Manar Salameh; Pilar Barberán-Martínez; Ana Rodríguez-Muñoz; Miguel Armengot; Margherita Scarpato; Roberta Zeuli; Mathieu Quinodoz; Francesca Simonelli; Carlo Rivolta; Sandro Banfi; José M. Millán
Eur J Hum Genet
EUROPEAN JOURNAL OF HUMAN GENETICS
r-FISABIO. Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Centro de Investigación Principe Felipe (CIPF)
European journal of human genetics, vol. 33, no. 6, pp. 727-737
EUROPEAN JOURNAL OF HUMAN GENETICS
r-FISABIO. Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Centro de Investigación Principe Felipe (CIPF)
European journal of human genetics, vol. 33, no. 6, pp. 727-737
Academic Journal
Ana Belén Iglesias-Romero; Karolina Kaminska; Mathieu Quinodoz; Marc Folcher; Siying Lin; Gavin Arno; Joaquim Calado; Andrew R. Webster; Alexandre Moulin; Ana Berta Sousa; Luisa Coutinho-Santos; Cristina Santos; Carlo Rivolta
Am J Hum Genet
American journal of human genetics, vol. 111, no. 10, pp. 2299-2306
Iglesias-Romero, A B, Kaminska, K, Quinodoz, M, Folcher, M, Lin, S, Arno, G, Calado, J, Webster, A R, Moulin, A, Sousa, A B, Coutinho-Santos, L, Santos, C & Rivolta, C 2024, ' Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa ', American Journal of Human Genetics, vol. 111, no. 10, pp. 2299-2306 . https://doi.org/10.1016/j.ajhg.2024.08.005
American journal of human genetics, vol. 111, no. 10, pp. 2299-2306
Iglesias-Romero, A B, Kaminska, K, Quinodoz, M, Folcher, M, Lin, S, Arno, G, Calado, J, Webster, A R, Moulin, A, Sousa, A B, Coutinho-Santos, L, Santos, C & Rivolta, C 2024, ' Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa ', American Journal of Human Genetics, vol. 111, no. 10, pp. 2299-2306 . https://doi.org/10.1016/j.ajhg.2024.08.005
Academic Journal
Mathieu Quinodoz; Elifnaz Celik; Dhryata Kamdar; Francesca Cancellieri; Karolina Kaminska; Mukhtar Ullah; Pilar Barberán-Martínez; Manon Bouckaert; Marta Cortón; Emma Delanote; Lidia Fernández-Caballero; Gema García García; Lara K Holtes; Marianthi Karali; Irma Lopez; Virginie G Peter; Nina Schneider; Lieselot Vincke; Carmen Ayuso; Sandro Banfi; Beatrice Bocquet; Frauke Coppieters; Frans P M Cremers; Chris F Inglehearn; Takeshi Iwata; Vasiliki Kalatzis; Robert K Koenekoop; José M Millán; Dror Sharon; Carmel Toomes; Carlo Rivolta
bioRxiv
Academic Journal
Archives of Psychiatry and Psychotherapy. 26:73-77
Academic Journal
Amanda Sutter; Michelle Rondeau; Karolina Kaminska; Sandrine Desforges; Sebastian Betzer; Melissa Tremblay
Canadian Journal of Program Evaluation. 38:532-541
Academic Journal
Mathieu Quinodoz; Karolina Kaminska; Francesca Cancellieri; Ji Hoon Han; Virginie G. Peter; Elifnaz Celik; Lucas Janeschitz-Kriegl; Nils Schärer; Daniela Hauenstein; Bence György; Giacomo Calzetti; Vincent Hahaut; Sónia Custódio; Ana Cristina Sousa; Yuko Wada; Yusuke Murakami; Almudena Avila Fernández; Cristina Rodilla Hernández; Pablo Minguez; Carmen Ayuso; Koji M. Nishiguchi; Cristina Santos; Luisa Coutinho Santos; Viet H. Tran; Veronika Vaclavik; Hendrik P.N. Scholl; Carlo Rivolta
Am J Hum Genet
American journal of human genetics, vol. 111, no. 4, pp. 701-713
Quinodoz, Mathieu; Kaminska, Karolina; Cancellieri, Francesca; Han, Ji Hoon; Peter, Virginie G; Celik, Elifnaz; Janeschitz-Kriegl, Lucas; Schärer, Nils; Hauenstein, Daniela; György, Bence; Calzetti, Giacomo; Hahaut, Vincent; Custódio, Sónia; Sousa, Ana Cristina; Wada, Yuko; Murakami, Yusuke; Fernández, Almudena Avila; Hernández, Cristina Rodilla; Minguez, Pablo; Ayuso, Carmen; ... (2024). Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads. American journal of human genetics, 111(4), pp. 701-713. Cell Press 10.1016/j.ajhg.2024.03.001
American journal of human genetics, vol. 111, no. 4, pp. 701-713
Quinodoz, Mathieu; Kaminska, Karolina; Cancellieri, Francesca; Han, Ji Hoon; Peter, Virginie G; Celik, Elifnaz; Janeschitz-Kriegl, Lucas; Schärer, Nils; Hauenstein, Daniela; György, Bence; Calzetti, Giacomo; Hahaut, Vincent; Custódio, Sónia; Sousa, Ana Cristina; Wada, Yuko; Murakami, Yusuke; Fernández, Almudena Avila; Hernández, Cristina Rodilla; Minguez, Pablo; Ayuso, Carmen; ... (2024). Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads. American journal of human genetics, 111(4), pp. 701-713. Cell Press 10.1016/j.ajhg.2024.03.001
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