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

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/4f97c609fc144737ad690173a33bc63e

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

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

URL الوصول: https://doaj.org/article/f2c51f09226b40409f9747ca8c6802ba

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

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.985227/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/662160fdc29447cda7fab0c32a16dc6f

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

Relation: http://www.sciencedirect.com/science/article/pii/S1110863016300490; https://doaj.org/toc/1110-8630

URL الوصول: https://doaj.org/article/54e8037177874d37823dad8d3512df30

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

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/42fb48d78cb043158c1b5f52a9b9ea5e

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

المصدر: Nature, Nature. 618(7965):625-633

الإتاحة: https://ideas.repec.org/a/nat/nature/v618y2023i7965d10.1038_s41586-023-06140-2.html

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2d279a757b2021e75acbc06d18730c7
https://doi.org/10.1111/cge.13661

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8d77ed66cd833e0f11bac503f9b279d3
https://doi.org/10.1183/13993003.congress-2021.pa3458

المؤلفون: Reda Abu Nema, Regan Doherty, Mai Mohamed, Bishara Fashho, Nader Abdel-Rahman, Corine Driessens, Mitali P. Patel, Nisreen Rumman, Jane S. Lucas, James A. Thompson, Grace M. Freke, Claire Jackson, Ahmad Qaaqour, Bruna Rubbo, Mahmoud R. Fassad, Patricia Goggin, Rueben Pengelly, Adel Adwan, Hannah M. Mitchison, Jagrati Chopra, Gabrielle Wheway

المصدر: Paediatric respiratory epidemiology.

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Internal medicine, Cohort, medicine, medicine.disease, business, Primary ciliary dyskinesia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2cc1a446c1d07f62d22e0ec0a0c5e4c6
https://doi.org/10.1183/13993003.congress-2021.oa2957

المؤلفون: Susana S. Lopes, Amelia Shoemark, Bruna Rubbo, Myrofora Goutaki, June K. Marthin, Claire Hogg, Hannah Wilkins, Jane S. Lucas, Kim G. Nielsen, Zuzanna Bukowy-Bieryllo, Ana Reula, Nisreen Rumman, Hannah Farley, Mahmoud R. Fassad, Claudia E. Kuehni, Katharine Harman, Dominic P. Norris, Agatha Wisse

المصدر: BMC Proceedings, Vol 12, Iss S16, Pp 1-15 (2018)
BMC Proceedings
Farley, Hannah; Rubbo, Bruna; Bukowy-Bieryllo, Zuzanna; Fassad, Mahmoud; Goutaki, Myrofora; Harman, Katharine; Hogg, Claire; Kuehni, Claudia E; Lopes, Susana; Nielsen, Kim G; Norris, Dominic P; Reula, Ana; Rumman, Nisreen; Shoemark, Amelia; Wilkins, Hannah; Wisse, Agatha; Lucas, Jane S; Marthin, June K (2018). Proceedings of the 3rd BEAT-PCD Conference and 4th PCD Training School. BMC Proceedings, 12(Suppl 16), p. 64. BioMed Central 10.1186/s12919-018-0161-6 <http://dx.doi.org/10.1186/s12919-018-0161-6>

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Heart disease, education, lcsh:Medicine, 610 Medicine & health, Meeting Report, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 0302 clinical medicine, Primary ciliary dyskinesia, 360 Social problems & social services, Epidemiology, medicine, otorhinolaryngologic diseases, Early childhood, lcsh:Science, Bronchiectasis, Multidisciplinary, business.industry, lcsh:R, Chronic sinusitis, General Medicine, medicine.disease, Chronic respiratory disease, Clinical trial, 030104 developmental biology, 030228 respiratory system, Family medicine, lcsh:Q, business, Working group

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4e74cf5f5aa057ebafc1b652f014359
http://link.springer.com/article/10.1186/s12919-018-0161-6