Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Regula Waelchli"'
Publikováno v:
Journal of the American Academy of Dermatology.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ff6052ecb249bf9deccc18be29d8e66c
https://doi.org/10.1016/j.jaad.2023.03.064
https://doi.org/10.1016/j.jaad.2023.03.064
Autor:
Susanne von der Heydt, Regula Waelchli, Alexandra Smith, Martin Theiler, Ralph Gnannt, Lisa Weibel, Sarah F. Schoch, Kathrin Neuhaus, Isabelle Luchsinger, Malcolm Kohler, Agnes Schwieger-Briel, Salome Kurth, Nicole Knöpfel, Kristin Kernland-Lang
Publikováno v:
European Journal of Pediatrics
Sleep problems are frequently reported in infants treated with propranolol for infantile hemangiomas, possibly serving as a marker for a negative impact on central nervous system function. In this cohort study, we objectively investigate the sleep be
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4070002594626cedca708f3bf6fee37d
https://doi.org/10.1007/s00431-021-04147-3
https://doi.org/10.1007/s00431-021-04147-3
Autor:
Daniël A. Lionarons, Davide Zecchin, Jeffrey R. MacDonald, Wei-Li Di, Hui Chen, Miriam Molina, Stuart Horswell, Gemma Tell, Véronique Bataille, Dale Bryant, Julia Newton-Bishop, Philip Stanier, Gudrun E. Moore, Kiran Parmar, Josep Malvehy, Catherine A. Harwood, Satyamaanasa Polubothu, Cristina Carrera, Jérémie Nsengimana, Veronica A. Kinsler, Julian Downward, Nathan Wlodarchak, Alan Pittman, Susana Puig, Yongna Xing, Neil J. Sebire, Anna C. Thomas, Mark Harland, L. Al-Olabi, Mehdi Zarrei, Michael Howell, Sarah Brand, Paulina Stadnik, Stephen W. Scherer, Lilian Hunt, Eugene Healy, Dale Moulding, Paula Aguilera, J.A. Puig-Butillé, Deborah Morrogh, Vanessa Martins da Silva, Sam Loughlin, Regula Waelchli, Sara Martin Barberan, Greg Elgar, Lionel Larue
Publikováno v:
Genetics in medicine, 23(9), 1636-1647. Lippincott Williams and Wilkins
Genetics in Medicine
Genetics in Medicine
Purpose\ud Much of the heredity of melanoma remains unexplained. We sought predisposing germline copy-number variants using a rare disease approach.\ud \ud Methods\ud Whole-genome copy-number findings in patients with melanoma predisposition syndrome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1cf020b972091ef0da9c25d686d2a0a5
https://pure.amc.nl/en/publications/inherited-duplications-of-ppp2r3b-predispose-to-nevi-and-melanoma-via-a-c21orf91driven-proliferative-phenotype(c7c1481a-d0e0-4090-8d51-8c03bd58e817).html
https://pure.amc.nl/en/publications/inherited-duplications-of-ppp2r3b-predispose-to-nevi-and-melanoma-via-a-c21orf91driven-proliferative-phenotype(c7c1481a-d0e0-4090-8d51-8c03bd58e817).html
Autor:
Gemma Tell, Michael Howell, L. Al-Olabi, Julia Newton-Bishop, Josep Malvehy, Susana Puig, Mark Harland, Lilian Hunt, Yongna Xing, Sam Loughlin, Jérémie Nsengimana, Gudrun E. Moore, Regula Waelchli, Lionel Larue, Veronica A. Kinsler, Wei-Li Di, Julian Downward, Anna C. Thomas, Dale Bryant, Catherine A. Harwood, Daniël A. Lionarons, Dale Moulding, Paula Aguilera, Satyamaanasa Polubothu, Greg Elgar, Sarah Brand, Eugene Healy, Cristina Carrera, Philip L. Beales, Paulina Stadnik, Davide Zecchin, Vanessa Martins da Silva, Mehdi Zarrei, Dagan Jenkins, Neil J. Sebire, Véronique Bataille, Stephen W. Scherer, Alan Pittman, Sara Martin Barberan, Juan-Anton Puig-Butillé, Deborah Morrogh, Nathan Wlodarchak, Philip Stanier, Miriam Molina, Jeffrey R. MacDonald, Stuart Horswell, Hui Chen, Kiran Parmar
The majority of the heredity of melanoma remains unexplained, however inherited copy number changes have not yet been systematically studied. The genetic environment is highly relevant to treatment stratification, and new gene discovery is therefore
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e09f513bc2b8b1d8046d1663a4b98ebd
https://doi.org/10.1101/672576
https://doi.org/10.1101/672576
Autor:
Katherine Dowsett, Mark H. Lipson, M. Glover, Jean-Baptiste Rivière, Rachel G. Knox, Loshan Kangesu, Veronica A. Kinsler, Zhiqiang Zeng, Aditi Murthy, Juling Ong, Neil W. Bulstrode, Amjad Khan, Alan Pittman, Susan M Huson, Darren Hargrave, W. Baird, Alex Virasami, Gregory James, Rahul Shah, Caroline Mahon, Anda Mosica, Celia Moss, Katrina A. Andrews, Robert Semple, Justine O'Hara, Kristiana Gordon, E Elizabeth Patton, Sahar Mansour, Maja Topf, Anna Thomas, Thomas S. Jacques, Kim M. Keppler-Noreuil, Hannah Kondolf, Julie C. Sapp, Marjorie J Lindhurst, Victoria E. R. Parker, Agnel P Joseph, Alex M. Barnacle, Satyamaanasa Polubothu, Paulina Stadnik, Regula Waelchli, Neil J. Sebire, Graeme Clark, L. Al-Olabi, Bran Sivakumar, Leslie G Biesecker
Publikováno v:
Parallel session abstracts.
Background Sporadic vascular malformations (VMs) are complex congenital anomalies of blood vessels that lead to stroke, life-threatening bleeds, disfigurement, overgrowth, and/or pain. Therapeutic options are severely limited and multi-disciplinary m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::aa5816567599607d196b6e722c80ea65
https://doi.org/10.1136/archdischild-2017-084620.30
https://doi.org/10.1136/archdischild-2017-084620.30