المؤلفون: Michelle Bisschoff, Izelle Smuts, Marli Dercksen, Maryke Schoonen, Barend C. Vorster, George van der Watt, Careni Spencer, Kireshnee Naidu, Franclo Henning, Surita Meldau, Robert McFarland, Robert W. Taylor, Krutik Patel, Mahmoud R. Fassad, Jana Vandrovcova, The ICGNMD Consortium, Ronald J. A. Wanders, Francois H. van der Westhuizen

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-13 (2024)

مصطلحات موضوعية: Multiple acyl-CoA dehydrogenase deficiency, MADD, Glutaric aciduria type II, ETFDH, Riboflavin, South Africa, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/4f97c609fc144737ad690173a33bc63eTest

المؤلفون: Nisreen Rumman, Mahmoud R. Fassad, Corine Driessens, Patricia Goggin, Nader Abdelrahman, Adel Adwan, Mutaz Albakri, Jagrati Chopra, Regan Doherty, Bishara Fashho, Grace M. Freke, Abdallah Hasaballah, Claire L. Jackson, Mai A. Mohamed, Reda Abu Nema, Mitali P. Patel, Reuben J. Pengelly, Ahmad Qaaqour, Bruna Rubbo, N. Simon Thomas, James Thompson, Woolf T. Walker, Gabrielle Wheway, Hannah M. Mitchison, Jane S. Lucas

المصدر: ERJ Open Research, Vol 9, Iss 2 (2023)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

العلاقة: http://openres.ersjournals.com/content/9/2/00714-2022.fullTest; https://doaj.org/toc/2312-0541Test

الوصول الحر: https://doaj.org/article/f2c51f09226b40409f9747ca8c6802baTest

المؤلفون: Rüdiger Schultz, Varpu Elenius, Mahmoud R. Fassad, Grace Freke, Andrew Rogers, Amelia Shoemark, Tiina Koistinen, Mai A. Mohamed, Jacqueline S. Y. Lim, Hannah M. Mitchison, Anu I. Sironen

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: motile cilia, primary ciliary dyskinesia, CFAP300, dynein arm preassembly, diagnostics, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.985227/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/662160fdc29447cda7fab0c32a16dc6fTest

المؤلفون: Mahmoud R. Fassad, Asmaa K. Amin, Heba A. Morsy, Noha M. Issa, Nader H. Bayoumi, Sahar A. El Shafei, Soha F. Kholeif

المصدر: Egyptian Journal of Medical Human Genetics, Vol 18, Iss 3, Pp 219-224 (2017)

مصطلحات موضوعية: Primary congenital glaucoma, PCR/RFLP, Cytochrome P1B1 gene mutations, Myocilin gene mutation, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S1110863016300490Test; https://doaj.org/toc/1110-8630Test

الوصول الحر: https://doaj.org/article/54e8037177874d37823dad8d3512df30Test

المؤلفون: Chiara Olcese, Mitali P. Patel, Amelia Shoemark, Santeri Kiviluoto, Marie Legendre, Hywel J. Williams, Cara K. Vaughan, Jane Hayward, Alice Goldenberg, Richard D. Emes, Mustafa M. Munye, Laura Dyer, Thomas Cahill, Jeremy Bevillard, Corinne Gehrig, Michel Guipponi, Sandra Chantot, Philippe Duquesnoy, Lucie Thomas, Ludovic Jeanson, Bruno Copin, Aline Tamalet, Christel Thauvin-Robinet, Jean- François Papon, Antoine Garin, Isabelle Pin, Gabriella Vera, Paul Aurora, Mahmoud R. Fassad, Lucy Jenkins, Christopher Boustred, Thomas Cullup, Mellisa Dixon, Alexandros Onoufriadis, Andrew Bush, Eddie M. K. Chung, Stylianos E. Antonarakis, Michael R. Loebinger, Robert Wilson, Miguel Armengot, Estelle Escudier, Claire Hogg, UK10K Rare Group, Serge Amselem, Zhaoxia Sun, Lucia Bartoloni, Jean-Louis Blouin, Hannah M. Mitchison

المصدر: Nature Communications, Vol 8, Iss 1, Pp 1-15 (2017)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2041-1723Test

الوصول الحر: https://doaj.org/article/42fb48d78cb043158c1b5f52a9b9ea5eTest

المؤلفون: Direnis Erdinc, Alejandro Rodríguez‐Luis, Mahmoud R Fassad, Sarah Mackenzie, Christopher M Watson, Sebastian Valenzuela, Xie Xie, Katja E Menger, Kate Sergeant, Kate Craig, Sila Hopton, Gavin Falkous, Genomics England Research Consortium, Joanna Poulton, Hector Garcia‐Moreno, Paola Giunti, Carlos A deMoura Aschoff, Jonas A Morales Saute, Amelia J Kirby, Camilo Toro, Lynne Wolfe, Danica Novacic, Lior Greenbaum, Aviva Eliyahu, Ortal Barel, Yair Anikster, Robert McFarland, Gráinne S Gorman, Andrew M Schaefer, Claes M Gustafsson, Robert W Taylor, Maria Falkenberg, Thomas J Nicholls

المصدر: EMBO Molecular Medicine, Vol 15, Iss 5, Pp n/a-n/a (2023)

مصطلحات موضوعية: Bloom syndrome, mitochondrial disease, mtDNA, TOP3A, Medicine (General), R5-920, Genetics, QH426-470

العلاقة: https://doi.org/10.15252/emmm.202216775Test; https://doaj.org/toc/1757-4676Test; https://doaj.org/toc/1757-4684Test; https://doaj.org/article/c9e7e4ced0784d4394725c67d2a116f4Test

الإتاحة: https://doi.org/10.15252/emmm.202216775Test
https://doaj.org/article/c9e7e4ced0784d4394725c67d2a116f4Test

المؤلفون: Dani Do Hyang Lee, Daniela Cardinale, Ersilia Nigro, Colin R Butler, Andrew Rutman, Mahmoud R Fassad, Robert A Hirst, Dale Moulding, Alexander Agrotis, Elisabeth Forsythe, Daniel Peckham, Evie Robson, Claire M Smith, Satyanarayana Somavarapu, Philip L Beales, Stephen L Hart, Sam M Janes, Hannah M Mitchison, Robin Ketteler, Robert E Hynds, Christopher O'Callaghan

مصطلحات موضوعية: Uncategorized, Readthrough therapy, primary ciliary dyskinesia, drug screening

العلاقة: 2381/14401937.v1; https://figshare.com/articles/journal_contribution/Higher_throughput_drug_screening_for_rare_respiratory_diseases_Readthrough_therapy_in_primary_ciliary_dyskinesia_/14401937Test

الإتاحة: https://figshare.com/articles/journal_contribution/Higher_throughput_drug_screening_for_rare_respiratory_diseases_Readthrough_therapy_in_primary_ciliary_dyskinesia_/14401937Test

المؤلفون: Travis Walton, Miao Gui, Simona Velkova, Mahmoud R. Fassad, Robert A. Hirst, Eric Haarman, Christopher O’Callaghan, Mathieu Bottier, Thomas Burgoyne, Hannah M. Mitchison, Alan Brown

المساهمون: Pediatrics, CCA - Cancer biology and immunology, Amsterdam Reproduction & Development (AR&D)

المصدر: Walton, T, Gui, M, Velkova, S, Fassad, M R, Hirst, R A, Haarman, E, O’Callaghan, C, Bottier, M, Burgoyne, T, Mitchison, H M & Brown, A 2023, ' Axonemal structures reveal mechanoregulatory and disease mechanisms ', Nature, vol. 618, no. 7965, pp. 625-633 . https://doi.org/10.1038/s41586-023-06140-2Test
Nature. Nature Publishing Group

مصطلحات موضوعية: Multidisciplinary

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7943a7301e2887ae67984b4bcfb1dc8Test
https://doi.org/10.1038/s41586-023-06140-2Test

المؤلفون: Mahmoud R. Fassad, Lucy Jenkins, Heba Morsy, Walaa I. Shoman, Thomas Cullup, Nesrine Radwan, Mitali P. Patel, Nader Fasseeh, Hannah M. Mitchison, Eman M. Fouda

المصدر: Clinical Genetics. 97:509-515

مصطلحات موضوعية: Male, 0301 basic medicine, Adolescent, Disease, 030105 genetics & heredity, Biology, 03 medical and health sciences, symbols.namesake, otorhinolaryngologic diseases, Genetics, medicine, Humans, Genetic Predisposition to Disease, Cilia, Genetic Testing, Child, Gene, Genetics (clinical), Genetic testing, Primary ciliary dyskinesia, Sanger sequencing, medicine.diagnostic_test, Genetic disorder, High-Throughput Nucleotide Sequencing, Infant, Proteins, medicine.disease, Phenotype, Cytoskeletal Proteins, 030104 developmental biology, Child, Preschool, Mutation, symbols, Motile cilium, Egypt, Female, Ciliary Motility Disorders

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2d279a757b2021e75acbc06d18730c7Test
https://doi.org/10.1111/cge.13661Test

المؤلفون: Hannah M. Mitchison, Marie Legendre, Adrián Rodríguez González, Mahmoud R. Fassad, Suzanne Crowley, Jane S. Lucas, Rahma Mani, Bernard Maitre, Mafalda Gomes, Amelia Shoemark, Myrofora Goutaki, Deborah J. Morris-Rosendahl, Claire Hogg

المصدر: Paediatric respiratory epidemiology.

مصطلحات موضوعية: business.industry, Genetic variants, Medicine, business, medicine.disease, Neuroscience, Beat (music), Primary ciliary dyskinesia

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8d77ed66cd833e0f11bac503f9b279d3Test
https://doi.org/10.1183/13993003.congress-2021.pa3458Test