Floating-Harbor syndrome: Presentation of the first Romanian patient with a SRCAP mutation and review of the literature

Autor: Budisteanu M, Bögershausen N, Papuc SM, Moosa S, Thoenes M, Riga D, Arghir A, Wollnik B

Publikováno v: Balkan Journal of Medical Genetics, Vol 21, Iss 1, Pp 83-86 (2018)

Floating-Harbor syndrome (FHS) is a rare autosomal dominant syndrome characterized by short stature with delayed bone age, retarded speech development, intellectual disability and dysmorphic facial features. Recently, dominant mutations almost exclus

Externí odkaz: https://doaj.org/article/fae3d314e2b84d86b87c6e5cfc466b8f

Development and validation of quantitative PCR assays for HIV-associated cryptococcal meningitis in sub-Saharan Africa: a diagnostic accuracy study

Autor: Goodall, J, Mawoko, N, Milburn, J, Mmipi, R, Muthoga, C, Ponatshego, P, Rulaganyang, I, Seatla, K, Tlhako, N, Tsholo, K, April, S, Bekiswa, A, Boloko, L, Bookholane, H, Crede, T, Davids, L, Goliath, R, Hlungulu, S, Hoffman, R, Kyepa, H, Masina, N, Maughan, D, Mnguni, T, Moosa, S, Morar, T, Mpalali, M, Naude, J, Oliphant, I, Sayed, S, Sebesho, L, Shey, M, Swanepoel, L, Chasweka, M, Chimang’anga, W, Chimphambano, T, Dziwani, E, Gondwe, E, Kadzilimbile, A, Kateta, S, Kossam, E, Kukacha, C, Lipenga, B, Ndaferankhande, J, Ndalama, M, Shah, R, Singini, A, Stott, K, Zambasa, A, Banda, T, Chikaonda, T, Chitulo, G, Chiwoko, L, Chome, N, Gwin, M, Kachitosi, T, Kamanga, B, Kazembe, M, Kumwenda, E, Kumwenda, M, Maya, C, Mhango, W, Mphande, C, Msumba, L, Munthali, T, Ngoma, D, Nicholas, S, Simwinga, L, Stambuli, A, Tegha, G, Zambezi, J, Ahimbisibwe, C, Akampurira, A, Alice, A, Cresswell, F, Gakuru, J, Kiiza, D, Kisembo, J, Kwizera, R, Kugonza, F, Laker, E, Luggya, T, Lule, A, Musubire, A, Muyise, R, Namujju, O, Ndyetukira, J, Nsangi, L, Okirwoth, M, Sadiq, A, Tadeo, K, Tukundane, A, Williams, D, Atwine, L, Buzaare, P, Collins, M, Emily, N, Inyakuwa, C, Kariisa, S, Mwesigye, J, Niwamanya, S, Rodgers, A, Rukundo, J, Rwomushana, I, Ssemusu, M, Stead, G, Boyd, K, Gondo, S, Kufa, P, Makaha, E, Moyo, C, Mtisi, T, Mudzingwa, S, Mwarumba, T, Zinyandu, T, Dromer, F, Johnstone, P, Hafeez, S, Mbangiwa, Tshepiso, Sturny-Leclère, Aude, Lechiile, Kwana, Kajanga, Cheusisime, Boyer-Chammard, Timothée, Hoving, Jennifer C, Leeme, Tshepo, Moyo, Melanie, Youssouf, Nabila, Lawrence, David S, Mwandumba, Henry, Mosepele, Mosepele, Harrison, Thomas S, Jarvis, Joseph N, Lortholary, Olivier, Alanio, Alexandre

Publikováno v: In The Lancet Microbe March 2024 5(3):e261-e271

Association of homocysteine with anaemia, menstrual cycle patterns, outcomes of pregnancy and risk for cardiovascular diseases in females from the Maldives National University

Autor: Naher, D.Z.U., Samy Mohamad Almoatasembellah Amin, F.A., Razana Faiz, R., Huda, A., Ali, U., Moosa, S., Sheeza, A.

Publikováno v: In Clinica Chimica Acta 1 May 2024 558 Supplement 1

Digital health in primary health care: Current use and future opportunities in the Sub-Saharan African region

Autor: O'Brien, N, Ayisi-Boateng, NK, Lounsbury, O, Leis, M, Ghafur, S, Darzi, A, Moosa, S, Neves, AL

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ce6419ab54ef4107bf2d91f7fc14a9a

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