Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Mohamed, Wafik"'
Publikováno v:
Akofena, Vol 05, Iss 013 (2024)
Résumé: Cette étude examine l'intégration de la pragmatique dans l'enseignement du français langue étrangère (FLE) au cycle secondaire en Algérie, visant à développer la compétence interculturelle des apprenants. L'analyse des programmes d
Externí odkaz:
https://doaj.org/article/a7d871db901a4d45a31e6c586671245c
Autor:
Amaka Offiah, Mohamed Wafik
Publikováno v:
Journal of Medical Genetics. 60:505-510
Many genetic testing methodologies are biased towards picking up structural variants (SVs) that alter copy number. Copy-neutral rearrangements such as inversions are therefore likely to suffer from underascertainment. In this study, manual review pro
Autor:
Anjana Kulkarni, Mohamed Wafik
Publikováno v:
Trends in Urology & Men's Health. 13:7-13
Autor:
Mohamed Wafik, Heidi Kuoppamaa, Priyal Hirani, John Hignett, Suzanne Lillis, Karine Lascelles, Shweta Sardesai, Kumudini Gomez, Muriel Holder-Espinasse
Publikováno v:
Clinical Dysmorphology.
Autor:
Solaf M. Elsayed, Nagia Fahmy, Radwa Gamal, Mohamed Wafik, Dina Zamzam, Mai Fahmy, Mahmoud Suelam
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 18, Iss 3, Pp 295-298 (2017)
Neurofibromatosis type I (NF1) is an autosomal dominant disorder with involvement of both the cutaneous and nervous systems. Patients are susceptible to neurological complication in the form of tumors of the brain and spinal cord. Multiple sclerosis
Externí odkaz:
https://doaj.org/article/33271d4bfa5d4959aa1fc1d8878f2f09
Autor:
Alistair T, Pagnamenta, Jing, Yu, Julie, Evans, Philip, Twiss, Amaka C, Offiah, Mohamed, Wafik, Sarju G, Mehta, Mohammed K, Javaid, Sarah F, Smithson, L, Wilson
Publikováno v:
Journal of medical genetics.
Many genetic testing methodologies are biased towards picking up structural variants (SVs) that alter copy number. Copy-neutral rearrangements such as inversions are therefore likely to suffer from underascertainment. In this study, manual review pro
Let fd,c(x) = xd+c ∈ Q[x], d ≥ 2. We write fn d,c for fd,c ◦ fd,c ◦ · · · ◦ f d,c} n times . The critical orbit of fd,c(x) is the set Ofd,c(0) := {fn d,c(0) : n ≥ 0}. For a sequence {an : n ≥ 0}, a primitive prime divisor for an is a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1246::7b1e9b2a6c1bb8c3e7a100857f9d5ca9
Publikováno v:
Journal of Electronic Materials. 48:3908-3918
The electrical blocking properties of defect-free self-assembled monolayers (SAMs) of short CH3(CH2)n−1SH alkyl-thiol molecules electrodeposited on the surface of a mono-crystalline gold electrode were investigated. The results are compared with a
Autor:
Usha Kini, Mohamed Wafik
Publikováno v:
Clinical Dysmorphology. 27:94-96
Autor:
Bruce Hopper, Ellen Macnamara, Valerie A. Arboleda, David Goudie, Nobuhiko Okamoto, Anne Blomhoff, Elizabeth M. McCormick, Joanna Kennedy, Zornitza Stark, Usha Kini, Benjamin Cogné, Susan Schelley, Emilie D. Douine, Stanley F. Nelson, Tiong Yang Tan, Mark Williams, Shelagh Joss, Kimberley Bradbury, Helen Heussler, Hakon Hakonarson, Claudia A. L. Ruivenkamp, Dusica Babovic-Vuksanovic, Jennifer L. Murphy, Esther A. R. Nibbeling, Ruth Armstrong, Mohamed Wafik, Melissa Lees, Louanne Hudgins, Mariet W. Elting, Naomichi Matsumoto, Ruth Newbury-Ecob, Benjamin Kamien, Sarina G. Kant, Alexander J. M. Dingemans, Eric W. Klee, Edward Blair, Bertrand Isidor, Dong Li, Victoria McKay, Marni J. Falk, Margot R.F. Reijnders, Patrick R. Blackburn, Patrick Yap, Phillis Lakeman, Kate Chandler, Janneke H M Schuurs-Hoeijmakers, Celia Duff-Farrier, Andrew Green, Ingrid Scurr, Noriko Miyake, Chirag Patel
Publikováno v:
Genetics in Medicine, 21(4), 850-860. Lippincott Williams & Wilkins
Genetics in medicine, 21(4), 850-860. Lippincott Williams and Wilkins
Genetics in Medicine, 21(4), 850-860. Lippincott Williams and Wilkins
Genetics in Medicine, 21(4), 850-860. NATURE PUBLISHING GROUP
Kennedy, J, Goudie, D, Blair, E, Chandler, K, Joss, S, McKay, V, Green, A, Armstrong, R, Lees, M, Kamien, B, Hopper, B, Tan, T Y, Yap, P, Stark, Z, Okamoto, N, Miyake, N, Matsumoto, N, Macnamara, E, Murphy, J L, McCormick, E, Hakonarson, H, Falk, M J, Li, D, Blackburn, P, Klee, E, Babovic-Vuksanovic, D, Schelley, S, Hudgins, L, Kant, S, Isidor, B, Cogne, B, Bradbury, K, Williams, M, Patel, C, Heussler, H, Duff-Farrier, C, Lakeman, P, Scurr, I, Kini, U, Elting, M, Reijnders, M, Schuurs-Hoeijmakers, J, Wafik, M, Blomhoff, A, Ruivenkamp, C A L, Nibbeling, E, Dingemans, A J M, Douine, E D, Nelson, S F, Arboleda, V A & The DDD Study, 2019, ' KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants ', Genetics in Medicine, vol. 21, no. 4, pp. 850-860 . https://doi.org/10.1038/s41436-018-0259-2
Genetics in medicine, 21(4), 850-860. Lippincott Williams and Wilkins
Genetics in Medicine, 21(4), 850-860. Lippincott Williams and Wilkins
Genetics in Medicine, 21(4), 850-860. NATURE PUBLISHING GROUP
Kennedy, J, Goudie, D, Blair, E, Chandler, K, Joss, S, McKay, V, Green, A, Armstrong, R, Lees, M, Kamien, B, Hopper, B, Tan, T Y, Yap, P, Stark, Z, Okamoto, N, Miyake, N, Matsumoto, N, Macnamara, E, Murphy, J L, McCormick, E, Hakonarson, H, Falk, M J, Li, D, Blackburn, P, Klee, E, Babovic-Vuksanovic, D, Schelley, S, Hudgins, L, Kant, S, Isidor, B, Cogne, B, Bradbury, K, Williams, M, Patel, C, Heussler, H, Duff-Farrier, C, Lakeman, P, Scurr, I, Kini, U, Elting, M, Reijnders, M, Schuurs-Hoeijmakers, J, Wafik, M, Blomhoff, A, Ruivenkamp, C A L, Nibbeling, E, Dingemans, A J M, Douine, E D, Nelson, S F, Arboleda, V A & The DDD Study, 2019, ' KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants ', Genetics in Medicine, vol. 21, no. 4, pp. 850-860 . https://doi.org/10.1038/s41436-018-0259-2
Purpose: Pathogenic variants in KAT6A have recently been identified as a cause of syndromic developmental delay. Within 2 years, the number of patients identified with pathogenic KAT6A variants has rapidly expanded and the full extent and variability
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::802b93e0066a09597876e176ae9d9c7a
https://hdl.handle.net/1887/3195990
https://hdl.handle.net/1887/3195990