检索结果 - Lukusa, Prosper

Homozygous Deletion Alpha-Thalassemia and Hereditary Persistence of Fetal Hemoglobin, Two Genetic Factors Predictive the Reduction of Morbidity and Mortality During Pregnancy in Si... 由 Mikobi, Tite Minga, Lukusa, Prosper Tshilobo, Muamba, Jean-Marie Mbuyi, Rhama, Tozin

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Usefulness of fragile X checklist and CGG distribution in specialized institutions in Kinshasa, DR Congo 由 Lumaka, Aimé, Lubala, Toni Kasole, Race, Valérie, Peeters, Hilde, Lukusa, Prosper, Devriendt, Koenraad

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DNA testing for sickle cell anemia in Africa: Implementation choices for the Democratic Republic of Congo 由 Ngole, Mamy, Race, Valerie, Mbayabo, Gloire, Lumbala, Paul, Songo, Cathy, Lukusa, Prosper Tshilobo, Devriendt, Koenraad, Matthijs, Gert, Lumaka, Aimé

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Clinical presentation and evolution of Xia-Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa) 由 Mubungu, Gerrye, Makay, Prince, Boujemla, Bouchra, Yanda, Stephane, Posey, Jennifer E., Lupski, James R., Bours, Vincent, Lukusa, Prosper, Devriendt, Koenraad, Lumaka, Aimé

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Association between sickle cell anemia and alpha thalassemia reveals a high prevalence of the α(3.7) triplication in congolese patients than in worldwide series 由 Mikobi, Tite Minga, Lukusa, Prosper Tshilobo, Aloni, Michel Ntetani, Lumaka, Aimé, Akilimali, Pierre Zalagile, Devriendt, Koenraad, Matthijs, Gert, Mbuyi Muamba, Jean‐Marie, Race, Valerie

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Protective BCL11A and HBS1L‐MYB polymorphisms in a cohort of 102 Congolese patients suffering from sickle cell anemia 由 Mikobi, Tite Minga, Tshilobo Lukusa, Prosper, Aloni, Michel Ntetani, Lumaka, Aimé Zola, Kaba, Didine Kinkodi, Devriendt, Koenraad, Matthijs, Gert, Mbuyi Muamba, Jean Marie, Race, Valérie

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A COMPREHENSIVE CLINICAL AND GENETIC STUDY IN 127 PATIENTS WITH ID IN KINSHASA, DR CONGO 由 Lumaka, Aimé, Race, Valerie, Peeters, Hilde, Corveleyn, Anniek, Coban-Akdemir, Zeynep, Jhangiani, Shalini N., Xiaofei, Song, Mubungu, Gerrye, Posey, Jennifer, Lupski, James R, Vermeesch, Joris R, Lukusa, Prosper, Devriendt, Koenraad

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Exploring association between MBL2 gene polymorphisms and the occurrence of clinical blackwater fever through a case–control study in Congolese children 由 Bodi, Joseph M., Nsibu, Célestin N., Longenge, Roland L., Aloni, Michel N., Akilimali, Pierre Z., Kayembe, Patrick K., Omar, Ahmeddin H., Verhaegen, Jan, Tshibassu, Pierre M., Lukusa, Prosper T., Lumaka, Aimé, Hirayama, Kenji

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Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity 由 Cheng, Hanyin, Capponi, Simona, Wakeling, Emma, Marchi, Elaine, Li, Quan, Zhao, Mengge, Weng, Chunhua, Piatek, Stefan G., Ahlfors, Helena, Kleyner, Robert, Rope, Alan, Lumaka, Aimé, Lukusa, Prosper, Devriendt, Koenraad, Vermeesch, Joris, Posey, Jennifer E., Palmer, Elizabeth E., Murray, Lucinda, Leon, Eyby, Diaz, Jullianne, Worgan, Lisa, Mallawaarachchi, Amali, Vogt, Julie, de Munnik, Sonja A., Dreyer, Lauren, Baynam, Gareth, Ewans, Lisa, Stark, Zornitza, Lunke, Sebastian, Gonçalves, Ana R., Soares, Gabriela, Oliveira, Jorge, Fassi, Emily, Willing, Marcia, Waugh, Jeff L., Faivre, Laurence, Riviere, Jean-Baptiste, Moutton, Sebastien, Mohammed, Shehla, Payne, Katelyn, Walsh, Laurence, Begtrup, Amber, Sacoto, Maria J. Guillen, Douglas, Ganka, Alexander, Nora, Buckley, Michael F., Mark, Paul R., Adès, Lesley C., Sandaradura, Sarah A., Lupski, James R., Roscioli, Tony, Agrawal, Pankaj B., Kline, Antonie D., Wang, Kai, Timmers, H. T. Marc, Lyon, Gholson J.

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