المؤلفون: Moncho-Amor, Veronica, Chakravarty, Probir, Galichet, Christophe, Matheu, Ander, Lovell-Badge, Robin, Rizzoti, Karine

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2021 Feb . 118(7), 1-12.

الوصول الحر: https://www.jstor.org/stable/27027326Test

المؤلفون: Akin, Leyla, Rizzoti, Karine, Gregory, Louise C., Corredor, Beatriz, Le Quesne Stabej, Polona, Williams, Hywel, Buonocore, Federica, Mouilleron, Stephane, Capra, Valeria, McGlacken-Byrne, Sinead M., Martos-Moreno, Gabriel Á., Azmanov, Dimitar N., Kendirci, Mustafa, Kurtoglu, Selim, Suntharalingham, Jenifer P., Galichet, Christophe, Gustincich, Stefano, Tasic, Velibor, Achermann, John C., Accogli, Andrea, Filipovska, Aleksandra, Tuilpakov, Anatoly, Maghnie, Mohamad, Gucev, Zoran, Gonen, Zeynep Burcin, Pérez-Jurado, Luis A., Robinson, Iain, Lovell-Badge, Robin, Argente, Jesús, Dattani, Mehul T.

وصف الملف: application/pdf

العلاقة: https://orca.cardiff.ac.uk/id/eprint/146999/1/WILLIAMS,%20HYWEL%20-%20PATHOGENIC%20VARIANTS%20IN%20RNPC3%20ARE%20ASSOCIATED%20WITH%20HYPOPITUITARISM%20AND%20PRIMARY%20OVARIAN%20INSUFFICIENCY.pdfTest; Akin, Leyla, Rizzoti, Karine, Gregory, Louise C., Corredor, Beatriz, Le Quesne Stabej, Polona, Williams, Hywel https://orca.cardiff.ac.uk/view/cardiffauthors/A069945P.htmlTest orcid:0000-0001-7758-0312 orcid:0000-0001-7758-0312, Buonocore, Federica, Mouilleron, Stephane, Capra, Valeria, McGlacken-Byrne, Sinead M., Martos-Moreno, Gabriel Á., Azmanov, Dimitar N., Kendirci, Mustafa, Kurtoglu, Selim, Suntharalingham, Jenifer P., Galichet, Christophe, Gustincich, Stefano, Tasic, Velibor, Achermann, John C., Accogli, Andrea, Filipovska, Aleksandra, Tuilpakov, Anatoly, Maghnie, Mohamad, Gucev, Zoran, Gonen, Zeynep Burcin, Pérez-Jurado, Luis A., Robinson, Iain, Lovell-Badge, Robin, Argente, Jesús and Dattani, Mehul T. 2022. Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency. Genetics in Medicine 24 (2) , pp. 384-397. 10.1016/j.gim.2021.09.019 https://doi.org/10.1016/j.gim.2021.09.019Test file https://orca.cardiff.ac.uk/id/eprint/146999/1/WILLIAMS,%20HYWEL%20-%20PATHOGENIC%20VARIANTS%20IN%20RNPC3%20ARE%20ASSOCIATED%20WITH%20HYPOPITUITARISM%20AND%20PRIMARY%20OVARIAN%20INSUFFICIENCY.pdfTest

الإتاحة: https://doi.org/10.1016/j.gim.2021.09.019Test
https://orca.cardiff.ac.uk/id/eprint/146999Test/
https://orca.cardiff.ac.uk/id/eprint/146999/1/WILLIAMS,%20HYWEL%20-%20PATHOGENIC%20VARIANTS%20IN%20RNPC3%20ARE%20ASSOCIATED%20WITH%20HYPOPITUITARISM%20AND%20PRIMARY%20OVARIAN%20INSUFFICIENCY.pdfTest

المؤلفون: Clayton, Richard W., Lovell-Badge, Robin, Galichet, Christophe

المساهمون: Francis Crick Institute, Medical Research Council

المصدر: Frontiers in Endocrinology ; volume 13 ; ISSN 1664-2392

الإتاحة: https://doi.org/10.3389/fendo.2022.953995Test

المؤلفون: World Health Organization, Galichet, Christophe, Taylor, Günes

مصطلحات موضوعية: Genome, Human, Gene Editing, Technical Report

جغرافية الموضوع: Geneva

العلاقة: WHO/SCI/RFH/2021.06; https://apps.who.int/iris/handle/10665/345330Test

الإتاحة: https://apps.who.int/iris/handle/10665/345330Test

المؤلفون: Caramello, Alessia, Galichet, Christophe, Rizzoti, Karine, Lovell-Badge, Robin

المساهمون: Medical Research Council, Cancer Research UK

المصدر: eLife ; volume 10 ; ISSN 2050-084X

الإتاحة: https://doi.org/10.7554/elife.63904Test
https://cdn.elifesciences.org/articles/63904/elife-63904-v2.pdfTest
https://cdn.elifesciences.org/articles/63904/elife-63904-v2.xmlTest
https://elifesciences.org/articles/63904Test

المؤلفون: Galichet, Christophe, Clayton, Richard W., Lovell-Badge, Robin

المساهمون: Francis Crick Institute, Medical Research Council

المصدر: Frontiers in Cellular Neuroscience ; volume 15 ; ISSN 1662-5102

الإتاحة: https://doi.org/10.3389/fncel.2021.673132Test

المؤلفون: Gómez-Gaviro, María Victoria, Scott, Charlotte E., Sesay, Abdul K., Matheu, Ander, Booth, Sarah, Galichet, Christophe, Lovell-Badge, Robin

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2012 Jan . 109(4), 1317-1322.

الوصول الحر: https://www.jstor.org/stable/41477244Test

المؤلفون: Caramello, Alessia, Galichet, Christophe, Sopena, Miriam Llorian, Lovell‐Badge, Robin, Rizzoti, Karine

المصدر: Developmental Neurobiology (19328451); Oct2022, Vol. 82 Issue 7, p565-580, 16p

المؤلفون: Galichet, Christophe, Lovell-Badge, Robin

المصدر: Laboratory Animals ; volume 56, issue 1, page 13-25 ; ISSN 0023-6772 1758-1117

مصطلحات موضوعية: General Veterinary, Animal Science and Zoology

الإتاحة: https://doi.org/10.1177/0023677221993141Test

المؤلفون: Galichet, Christophe¹ (AUTHOR) Christophe.galichet@crick.ac.uk, Lovell-Badge, Robin¹ (AUTHOR)

المصدر: Laboratory Animals. Feb2022, Vol. 56 Issue 1, p13-25. 13p.

مصطلحات موضوعية: *DNA repair, *GENOME editing, *LABORATORY animals, *DOUBLE-strand DNA breaks, *ANIMAL species