المؤلفون: Zelia Corradi, Claire-Marie Dhaenens, Olivier Grunewald, Ipek Selen Kocabaş, Isabelle Meunier, Sandro Banfi, Marianthi Karali, Frans P. M. Cremers, Rebekkah J. Hitti-Malin

المصدر: International Journal of Molecular Sciences, Vol 25, Iss 11, p 5940 (2024)

مصطلحات موضوعية: ABCA4, Stargardt disease, structural variants, CNV, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1422-0067/25/11/5940; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/821f45faf9e648c183b644a0d18dfc90

المؤلفون: 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

المصدر: Biomolecules, Vol 14, Iss 3, p 367 (2024)

مصطلحات موضوعية: maculopathies, macula, retinal, inherited, sequencing, penetrance, Microbiology, QR1-502

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2218-273X/14/3/367; https://doaj.org/toc/2218-273X

URL الوصول: https://doaj.org/article/a59ac914048b4e7daf70faf03534c762

المؤلفون: 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

المصدر: Frontiers in Cell and Developmental Biology, Vol 11 (2023)

مصطلحات موضوعية: inherited retinal diseases, targeted gene sequencing, cost-effective, high-throughput, smMIPs, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2023.1112270/full; https://doaj.org/toc/2296-634X

URL الوصول: https://doaj.org/article/70773f087bee4d9ea754539e4fee1ac1

المؤلفون: Benjamin Mc Clinton, Zelia Corradi, Martin McKibbin, Daan M. Panneman, Susanne Roosing, Erica G. M. Boonen, Manir Ali, Christopher M. Watson, David H. Steel, Frans P. M. Cremers, Chris F. Inglehearn, Rebekkah J. Hitti-Malin, Carmel Toomes

المصدر: Genes, Vol 14, Iss 1, p 191 (2023)

مصطلحات موضوعية: maculopathies, ABCA4, Stargardt, smMIPs, inherited retinal diseases, NGS, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4425/14/1/191; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/8f53b9d7c7c448a69d40c1aab70fb100

المؤلفون: 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

المصدر: BMC Genetics, Vol 21, Iss 1, Pp 1-17 (2020)

مصطلحات موضوعية: Canine, Dog, Progressive retinal atrophy, PRA, Canine retinal degeneration, Inherited, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12863-020-00911-w; https://doaj.org/toc/1471-2156

URL الوصول: https://doaj.org/article/eb2103d4da6248a19a665b3c1dc3643b

المؤلفون: Rebekkah J. Hitti-Malin, Louise M. Burmeister, Frode Lingaas, Maria Kaukonen, Inka Pettinen, Hannes Lohi, David Sargan, Cathryn S. Mellersh

المصدر: Genes, Vol 12, Iss 11, p 1771 (2021)

مصطلحات موضوعية: canine, PRA, retinal degeneration, BBS, BBS2, syndromic, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4425/12/11/1771; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/3d0629e2e15e4956b71a3bea3c05e7c2

المؤلفون: K.-M. Müller, L. M. Ossege, J.-P. Malin, T. Pohle, B. May

المصدر: DMW - Deutsche Medizinische Wochenschrift. 121:758-762

مصطلحات موضوعية: medicine.medical_specialty, medicine.diagnostic_test, biology, Atrophic gastritis, business.industry, Chromogranin A, Neurological examination, General Medicine, medicine.disease, Gastroenterology, Resorption, medicine.anatomical_structure, Internal medicine, medicine, biology.protein, Gastric mucosa, Vitamin B12, Gastritis, medicine.symptom, business, Mean corpuscular volume

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3d93ab19ec1febf042c2bd0fa5375c0d
https://doi.org/10.1055/s-2007-1024559

المؤلفون: 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

المصدر: European Respiratory Journal. 26:898-903

مصطلحات موضوعية: Pulmonary and Respiratory Medicine, business.industry, media_common.quotation_subject, medicine.medical_treatment, Epworth Sleepiness Scale, Positive pressure, Driving simulator, Sleep apnea, Poison control, medicine.disease, nervous system diseases, respiratory tract diseases, Alertness, Anesthesia, medicine, Continuous positive airway pressure, business, Vigilance (psychology), media_common

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2082b88d75949d4aae898d44c9118b24
https://doi.org/10.1183/09031936.05.00054704

المؤلفون: Maritta Orth, Sylvia Kotterba, J.-P. Malin, Gerhard Schultze-Werninghaus, K. Rasche

المصدر: Biomedizinische Technik/Biomedical Engineering. 48:55-61

مصطلحات موضوعية: Engineering, medicine.medical_specialty, business.industry, Biomedical Engineering, Driving simulator, Neuropsychology, Human factors and ergonomics, Poison control, Occupational safety and health, Single test, Physical medicine and rehabilitation, Injury prevention, medicine, Medical history, business, Simulation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d9d7b3007be92fedaf820e9feedb9aa5
https://doi.org/10.1515/bmte.2003.48.3.55

المؤلفون: I. Schmitz, J. P. Malin, M. Vorgerd, Klaus-Michael Müller, E. Sindern, E. Postler

المصدر: Der Pathologe. 23:229-234

مصطلحات موضوعية: Gynecology, medicine.medical_specialty, Fatal outcome, business.industry, Medicine, business, Pathology and Forensic Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::fb88bf3865713cb62252701ab39cca39
https://doi.org/10.1007/s00292-002-0533-5