Zobrazeno 1 - 10
of 275
pro vyhledávání: '"J P, Malin"'
Autor:
Rebekkah J. Hitti-Malin, Daan M. Panneman, Zelia Corradi, Erica G. M. Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard H. F. Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Sandro Banfi, Tamar Ben-Yosef, Damjan Glavač, G. Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P. Szaflik, Anna Matynia, Michael B. Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfride De Baere, Carel B. Hoyng, Catherina H. Z. Li, Caroline C. W. Klaver, Chris F. Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L. Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L. Vincent, Lisa Roberts, Raj Ramesar, Giovanna Sartor, Elena Luppi, Susan M. Downes, L. Ingeborgh van den Born, Terri L. McLaren, John N. De Roach, Tina M. Lamey, Jennifer A. Thompson, Fred K. Chen, Anna M. Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J. Bolz, Hülya Kayserili, Susanne Roosing, Frans P. M. Cremers
Publikováno v:
Biomolecules, Vol 14, Iss 3, p 367 (2024)
Inherited macular dystrophies (iMDs) are a group of genetic disorders, which affect the central region of the retina. To investigate the genetic basis of iMDs, we used single-molecule Molecular Inversion Probes to sequence 105 maculopathy-associated
Externí odkaz:
https://doaj.org/article/a59ac914048b4e7daf70faf03534c762
Autor:
Daan M. Panneman, Rebekkah J. Hitti-Malin, Lara K. Holtes, Suzanne E. de Bruijn, Janine Reurink, Erica G. M. Boonen, Muhammad Imran Khan, Manir Ali, Sten Andréasson, Elfride De Baere, Sandro Banfi, Miriam Bauwens, Tamar Ben-Yosef, Béatrice Bocquet, Marieke De Bruyne, Berta de la Cerda, Frauke Coppieters, Pietro Farinelli, Thomas Guignard, Chris F. Inglehearn, Marianthi Karali, Ulrika Kjellström, Robert Koenekoop, Bart de Koning, Bart P. Leroy, Martin McKibbin, Isabelle Meunier, Konstantinos Nikopoulos, Koji M. Nishiguchi, James A. Poulter, Carlo Rivolta, Enrique Rodríguez de la Rúa, Patrick Saunders, Francesca Simonelli, Yasmin Tatour, Francesco Testa, Alberta A. H. J. Thiadens, Carmel Toomes, Anna M. Tracewska, Hoai Viet Tran, Hiroaki Ushida, Veronika Vaclavik, Virginie J. M. Verhoeven, Maartje van de Vorst, Christian Gilissen, Alexander Hoischen, Frans P. M. Cremers, Susanne Roosing
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Introduction: Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are two groups of inherited retinal diseases (IRDs) where the rod photoreceptors degenerate followed by the cone photoreceptors of the retina. A genetic diagnosis for IRDs i
Externí odkaz:
https://doaj.org/article/70773f087bee4d9ea754539e4fee1ac1
Autor:
Rebekkah J. Hitti-Malin, Louise M. Burmeister, Sally L. Ricketts, Thomas W. Lewis, Louise Pettitt, Mike Boursnell, Ellen C. Schofield, David Sargan, Cathryn S. Mellersh
Publikováno v:
BMC Genetics, Vol 21, Iss 1, Pp 1-17 (2020)
Abstract Background Canine progressive retinal atrophies are a group of hereditary retinal degenerations in dogs characterised by depletion of photoreceptor cells in the retina, which ultimately leads to blindness. PRA in the Lhasa Apso (LA) dog has
Externí odkaz:
https://doaj.org/article/eb2103d4da6248a19a665b3c1dc3643b
Publikováno v:
DMW - Deutsche Medizinische Wochenschrift. 121:758-762
HISTORY AND FINDINGS A 69-year-old woman reported marked restriction of voluntary movements of the hands in the preceding 6 months. She had also experienced loss of motivation, memory and concentration. Her skin was pale yellow, and scratches on her
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3d93ab19ec1febf042c2bd0fa5375c0d
https://doi.org/10.1055/s-2007-1024559
https://doi.org/10.1055/s-2007-1024559
Autor:
Kurt Rasche, Torsten T. Bauer, J.-P. Malin, Gerhard Schultze-Werninghaus, W. Widdig, M. Leidag, J. W. Walther, J. de Zeeuw, Maritta Orth, Hans-Werner Duchna, Sylvia Kotterba
Publikováno v:
European Respiratory Journal. 26:898-903
Patients with obstructive sleep apnoea syndrome (OSAS) have an increased car accident rate. Investigations on accident frequency are based on case history, insurance reports and driving simulator studies. The present study combines neuropsychological
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2082b88d75949d4aae898d44c9118b24
https://doi.org/10.1183/09031936.05.00054704
https://doi.org/10.1183/09031936.05.00054704
Publikováno v:
Biomedizinische Technik/Biomedical Engineering. 48:55-61
Daytime sleepiness is a leading symptom of various diseases, and is an important cause of accidents at the workplace and on the road. For the evaluation of accident frequency, the medical history, neurophysiological and neuropsychological tests, and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d9d7b3007be92fedaf820e9feedb9aa5
https://doi.org/10.1515/bmte.2003.48.3.55
https://doi.org/10.1515/bmte.2003.48.3.55
Publikováno v:
Der Pathologe. 23:229-234
Der seltenen adulten Polyglukosankorperkrankheit (APBD) liegen autosomal-rezessiv vererbte Defekte des Glykogen-Branching-Enzyms zugrunde. Die Erkrankung wird meist zwischen dem 40. und 60. Lebensjahr klinisch manifest und verlauft langsam progredien
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fb88bf3865713cb62252701ab39cca39
https://doi.org/10.1007/s00292-002-0533-5
https://doi.org/10.1007/s00292-002-0533-5
Autor:
Sylvia Kotterba, M. E. Schläfke, W. Widdig, Gerhard Schultze-Werninghaus, Maritta Orth, Hans-Werner Duchna, J. de Zeeuw, D. Schäfer, J.-P. Malin, Kurt Rasche, M. Leidag, J. W. Walther
Publikováno v:
Pneumologie. 56:13-18
Patients with obstructive sleep apnea syndrome (OSAS) have an accident rate between two and seven times higher than normals. Investigations on accident frequency are based on case history, insurancy reports, and driving simulator investigations. The
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::75ef82e1180fb110a19bbaca61926bcd
https://doi.org/10.1055/s-2002-19587
https://doi.org/10.1055/s-2002-19587
Publikováno v:
Der Schmerz. 13:201-204
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dae2d5b321b3cb78d2925db14910a8ce
https://doi.org/10.1007/s004820050199
https://doi.org/10.1007/s004820050199
Publikováno v:
DMW - Deutsche Medizinische Wochenschrift. 112:57-59
A 45-year-old woman developed meningoencephalitis owing to an infection with Brucella abortus. The probable source of infection was contaminated ewe's milk cheese. Treatment with cefotaxim and doxycycline led to regression of the clinical symptoms an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::eefb635f89366b57f4b29e2f51a5ff19
https://doi.org/10.1055/s-2008-1068004
https://doi.org/10.1055/s-2008-1068004