학술논문
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'학술논문'
에서 검색결과 19건 | 목록
1~20
Academic Journal
Malhotra, Alka ; Thorpe, Erin ; Coffey, Alison J. ; Rajkumar, Revathi ; Adjeman, Josephine ; Naa Adjeley Adjetey, Naomi Dianne ; Aglobitse, Sharron ; Allotey, Felix ; Arsov, Todor ; Ashong, Joyce ; Badoe, Ebenezer Vincent ; Basel, Donald ; Brew, Yvonne ; Brown, Chester ; Bosfield, Kerri ; Casas, Kari ; Cornejo-Olivas, Mario ; Davis-Keppen, Laura ; Freed, Abbey ; Gibson, Kate ; Jayakar, Parul ; Jones, Marilyn C. ; Kawome, Martina ; Lumaka, Aimé ; Maier, Ursula ; Makay, Prince ; Manassero, Gioconda ; Marbell-Wilson, Marilyn ; Marcuccilli, Charles ; Masser-Frye, Diane ; McCarrier, Julie ; Mills, Hannah-Sharon ; Montoya, Jeny Balazar ; Mubungu, Gerrye ; Ngole, Mamy ; Perez, Jorge ; Pivnick, Eniko ; Duenas-Roque, Milagros M. ; Pena Salguero, Hildegard ; Serize, Arturo ; Shinawi, Marwan ; Sirchia, Fabio ; Soler-Alfonso, Claudia ; Taylor, Alan ; Thompson, Lauren ; Vance, Gail ; Vanderver, Adeline ; Vaux, Keith ; Velasco, Danita ; Wiafe, Samuel ; Taft, Ryan J. ; Perry, Denise L. ; Kesari, Akanchha
In Human Genetics and Genomics Advances 10 July 2025 6(3)
Academic Journal
Thorpe, Erin ; Williams, Taylor ; Shaw, Chad ; Chekalin, Evgenii ; Ortega, Julia ; Robinson, Keisha ; Button, Jason ; Jones, Marilyn C. ; Campo, Miguel del ; Basel, Donald ; McCarrier, Julie ; Keppen, Laura Davis ; Royer, Erin ; Foster-Bonds, Romina ; Duenas-Roque, Milagros M. ; Urraca, Nora ; Bosfield, Kerri ; Brown, Chester W. ; Lydigsen, Holly ; Mroczkowski, Henry J. ; Ward, Jewell ; Sirchia, Fabio ; Giorgio, Elisa ; Vaux, Keith ; Salguero, Hildegard Peña ; Lumaka, Aimé ; Mubungu, Gerrye ; Makay, Prince ; Ngole, Mamy ; Lukusa, Prosper Tshilobo ; Vanderver, Adeline ; Muirhead, Kayla ; Sherbini, Omar ; Lah, Melissa D. ; Anderson, Katelynn ; Bazalar-Montoya, Jeny ; Rodriguez, Richard S. ; Cornejo-Olivas, Mario ; Milla-Neyra, Karina ; Shinawi, Marwan ; Magoulas, Pilar ; Henry, Duncan ; Gibson, Kate ; Wiafe, Samuel ; Jayakar, Parul ; Salyakina, Daria ; Masser-Frye, Diane ; Serize, Arturo ; Perez, Jorge E. ; Taylor, Alan ; Shenbagam, Shruti ; Abou Tayoun, Ahmad ; Malhotra, Alka ; Bennett, Maren ; Rajan, Vani ; Avecilla, James ; Warren, Andrew ; Arseneault, Max ; Kalista, Tasha ; Crawford, Ali ; Ajay, Subramanian S. ; Perry, Denise L. ; Belmont, John ; Taft, Ryan J.
In The American Journal of Human Genetics 11 July 2024 111(7):1271-1281
Academic Journal
Charles, Aaliah; Lombard, Zané; Carstens, Nadia; Goliath, Zandisiwe; Lumaka, Aimé; Makay, Prince; Louw, Nadja; Kerr, Robyn; Govender, Daniesha; Krause, Amanda; Devriendt, Koenraad
Frontiers in Genetics; 2025, p1-12, 12p
Academic Journal
Venti, Erin ; Masser-Frye, Diane ; Del Campo, Miguel ; Jones, Marilyn ; Cornejo-Olivas, Mario ; Palomino, Alid Manrique ; Duenas-Roque, Milagros ; Manassero-Morales, Gioconda ; Bazalar-Montoya, Jeny ; Rodriguez, Richard ; Salguero, Hildegard Peña ; Cervantes, Mitzy ; Lumaka, Aime ; Mubungu, Gerrye ; Makay, Prince ; Ngole, Mamy ; Lukusa, Prosper Tshilobo ; Wiafe, Samuel ; Nyakambangwe, Trudy ; Kuona, Patience ; Kandawasvika, Gwen ; Napata, Nothando ; Vanderver, Adeline ; Sherbini, Omar ; Pizzino, Amy ; Basel, Donald ; McCarrier, Julie ; Shinawi, Marwan ; Urraca, Nora ; Brown, Chester ; Sirchia, Fabio ; Giorgio, Elisa ; Taylor, Alan ; Shenbagam, Shruti ; Tayoun, Ahmad Abou ; Royer, Erin ; Schmidt, Lindsey ; Perry, Denise ; Kesari, Akanchha ; Marshall, Christian ; Pan, Anna ; Boycott, Kym ; Gillespie, Meredith ; Chisholm, Caitlin ; Jobanputra, Vaidehi ; Wilson, Ashley ; Fielding, Lena ; Schlesinger, David ; Kok, Fernando ; Terry, Sharon ; Taft, Ryan
In Genetics in Medicine Open 2025 3 Supplement 2
Academic Journal
Nsiangani Lusambo, Nadine; Fuanani, Patrick; Mubungu, Gerrye; Makay, Prince; Ngole, Mamy; Ngweme, Georgette; Kajingulu, François‐Pantaléon; Perry, Denise; Kesari, Akanchha; Calzetti, Giacomo; Rivolta, Carlo; Devriendt, Koenraad; Lukusa Tshilobo, Prosper; Thorpe, Erin; Taft, Ryan J.; Lumaka, Aimé
Academic Journal
Academic Journal
Makay, Prince; Fasquelle, Corinne; Mubungu, Gerrye; Ekolo, Esther; Mupuala, Aimée; Fuanani, Patrick; Sonet, Ines; Charloteaux, Benoît; Palmeira, Leonor; Gatot, Jean-Stéphane; Lukusa Tshilobo, Prosper; Bours, Vincent; Devriendt, Koenraad; Lumaka, Aimé
Clinical Dysmorphology; Apr2025, Vol. 34 Issue 2, p44-48, 5p
Academic Journal
Essabe, Anaïs; Lunguya, Octavie; Balekelayi, Jacques; Bikoumou, Audray; Makay, Prince; Fwani, Agathe; Biselele, Thérèse
Annales Africaines de Medecine; Vol. 18 No. 2 (2025); e5968-e5975
Academic Journal
Baldovino, Simone; Sciascia, Savino; Carta, Claudio; Salvatore, Marco; Cellai, Laura L.; Ferrari, Gianluca; Lumaka, Aimé; Groft, Stephen; Alanay, Yasemin; Azam, Maleeha; Baynam, Gareth; Cederroth, Helene; la Paz, Eva Maria Cutiongco-de; Dissanayake, Vajira Harshadeva Weerabaddana; Giugliani, Roberto; Gonzaga-Jauregui, Claudia; Hettiarachchi, Dineshani; Kvlividze, Oleg; Landoure, Guida; Makay, Prince
Frontiers in Public Health; 2025, p1-11, 11p
Academic Journal
Louw N; Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, The University of the Witwatersrand, Johannesburg, South Africa.; Makay P; Center for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo.; Department of Pediatrics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo.; Center for Human Genetics, University Hospitals, University of Leuven, Leuven, Belgium.; Mpangase PT; Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand. Johannesburg, South Africa.; Naicker T; Department of Paediatrics, Medical Genetics, School of Clinical Medicine, University of KwaZulu-Natal, Durban, South Africa.; Yates LM; Kwazulu-Natal Research Innovation and Sequencing Platform (KRISP), University of KwaZulu-Natal, Durban, South Africa.; Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Honey E; Department of Biochemistry, Genetics and Microbiology, Faculty of Natural and Agricultural Science, University of Pretoria, Pretoria, South Africa.; Mbungu G; Center for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo.; Department of Pediatrics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo.; Van Den Bogaert K; Center for Human Genetics, University Hospitals, University of Leuven, Leuven, Belgium.; Firth HV; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, United Kingdom.; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom.; Hurles ME; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, United Kingdom.; Tshilobo PL; Center for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo.; Department of Pediatrics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo.; Center for Human Genetics, University Hospitals, University of Leuven, Leuven, Belgium.; Devriendt K; Center for Human Genetics, University Hospitals, University of Leuven, Leuven, Belgium.; Krause A; Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, The University of the Witwatersrand, Johannesburg, South Africa.; Carstens N; Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, The University of the Witwatersrand, Johannesburg, South Africa.; Genomics Platform, South African Medical Research Council, Cape Town, South Africa.; Lumaka A; Center for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo.; Department of Pediatrics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo.; Lombard Z; Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, The University of the Witwatersrand, Johannesburg, South Africa.; Department of Internal Medicine, School of Clinical Medicine, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE
Academic Journal
Delgado-Vega, Angelica Maria; Cederroth, Helene; Taylan, Fulya; Ekholm, Katja; Ek, Marlene; Thonberg, Håkan; Jemt, Anders; Nilsson, Daniel; Eisfeldt, Jesper; Bilgrav Saether, Kristine; Höijer, Ida; Akgun-Dogan, Ozlem; Asano, Yui; Barakat, Tahsin Stefan; Batkovskyte, Dominyka; Baynam, Gareth; Bodamer, Olaf; Chetruengchai, Wanna; Corcoran, Pádraic; Couse, Madeline; Danis, Daniel; Demidov, German; Dohi, Eisuke; Erhardsson, Mattias; Fernandez-Luna, Luis; Fujiwara, Toyofumi; Garg, Neha; Giugliani, Roberto; Gonzaga-Jauregui, Claudia; Grigelioniene, Giedre; Groza, Tudor; Gunnarsson, Cecilia; Hammarsjö, Anna; Hammond, Charles Kumi; Hatirnaz Ng, Özden; Hesketh, Sirisha; Hettiarachchi, Dineshani; Johansson Soller, Maria; Kirmani, Umn Ahmed; Kjellberg, Martin; Kvarnung, Malin; Kvlividze, Oleg; Lagerstedt-Robinson, Kristina; Lasko, Paul; Lassmann, Timo; Lau, Lynette Y. S.; Laurie, Steven; Lim, Weng Khong; Liu, Zhandong; Lysenkova Wiklander, Mariya; Makay, Prince; Maiga, Alassane Baneye; Maya-González, Carolina; Meyn, M. Stephen; Neethiraj, Ramprasad; Nigro, Vincenzo; Nordgren, Felix; Nordlund, Jessica; Orrsjö, Sara; Ottosson, Jesper; Ozbek, Ugur; Özdemir, Özkan; Partin, Clyde; Pearce, David A.; Peck, Raquel; Pedersen, Annie; Pettersson, Maria; Pongpanich, Monnat; Posada de la Paz, Manuel; Ramani, Arun; Romero, Juan Andres; Romero, Vanessa I.; Rosenquist, Richard; Saw, Aung Min; Spencer, Matthew; Stattin, Eva-Lena; Srichomthong, Chalurmpon; Tapia-Paez, Isabel; Taruscio, Domenica; Taylor, Julie P.; Tkemaladze, Tinatin; Tully, Ian; Tümer, Zeynep; van Zelst-Stams, Wendy A. G.; Verloes, Alain; Västerviga, Emma; Wang, Sailan; Yang, Rachel; Yamamoto, Shinya; Yépez, Vicente A.; Zhang, Qing; Shotelersuk, Vorasuk; Wiafe, Samuel Agyei; Alanay, Yasemin; Botto, Lorenzo D.; Kirmani, Salman; Lumaka, Aimé; Palmer, Elizabeth Emma; Puri, Ratna Dua; Wirta, Valtteri; Lindstrand, Anna; Buske, Orion J.; Cederroth, Mikk; Nordgren, Ann
Nature Genetics. :1-8
Academic Journal
Mubungu, Gerrye; Roelants, Mathieu; Lumaka, Aimé; Makay, Prince; Tshika, Dahlie; Lubala, Toni; Tshilobo Lukusa, Prosper; Devriendt, Koenraad
American Journal of Medical Genetics. Part A; Oct2022, Vol. 188 Issue 10, p3063-3070, 8p
Academic Journal
Makay, Prince; Mubungu, Gerrye; Mupuala, Aimée; Bluske, Krista; Brown, Carolyn; Schmidt, Sarah A.; Ngole, Mamy; Fuanani, Patrick; Perry, Denise L.; Lukusa, Prosper; Devriendt, Koenraad; Taft, Ryan J.; Lumaka, Aimé
American Journal of Medical Genetics. Part A; Sep2022, Vol. 188 Issue 9, p2825-2831, 7p
Academic Journal
Mubungu, Gerrye; Makay, Prince; Boujemla, Bouchra; Yanda, Stephane; Posey, Jennifer E.; Lupski, James R.; Bours, Vincent; Lukusa, Prosper; Devriendt, Koenraad; Lumaka, Aimé
American Journal of Medical Genetics. Part A; Mar2021, Vol. 185 Issue 3, p990-994, 5p
Academic Journal
Mubungu, Gerrye; Makay, Prince; Lumaka, Aimé; Mvuama, Nono; Tshika, Dahlie; Tady, Bruno‐Paul; Biselele, Thérèse; Roelants, Mathieu; Tshilobo, Prosper Lukusa; Devriendt, Koenraad
American Journal of Medical Genetics. Part A; Feb2021, Vol. 185 Issue 2, p453-460, 8p
Academic Journal
Mubungu, Gerrye; Lukute, Guy; Makay, Prince; Songo, Cathy; Lukusa, Prosper; Devriendt, Koenraad; Lumaka, Aimé
American Journal of Medical Genetics. Part A; Jul2020, Vol. 182 Issue 7, p1572-1575, 4p
Academic Journal
Mubungu, Gerrye; Lumaka, Aimé; Mvuama, Nono; Tshika, Dahlie; Makay, Prince; Tshilobo, Prosper Lukusa; Devriendt, Koenraad
American Journal of Medical Genetics. Part A; Apr2020, Vol. 182 Issue 4, p632-639, 8p
Academic Journal
Sciascia, Savino; Roccatello, Dario; Salvatore, Marco; Carta, Claudio; Cellai, Laura L.; Ferrari, Gianluca; Lumaka, Aime; Groft, Stephen; Alanay, Yasemin; Azam, Maleeha; Baynam, Gareth; Cederroth, Helene; Cutiongco-de la Paz, Eva Maria; Dissanayake, Vajira Harshadeva Weerabaddana; Giugliani, Roberto; Gonzaga-Jauregui, Claudia; Hettiarachchi, Dineshani; Kvlividze, Oleg; Landoure, Guida; Makay, Prince; Melegh, Bela; Ozbek, Ugur; Puri, Ratna Dua; Romero, Vanessa I.; Scaria, Vinod; Jamuar, Saumya S.; Shotelersuk, Vorasuk; Gahl, William A.; Wiafe, Samuel A.; Bodamer, Olaf; Posada, Manuel; Taruscio, Domenica
Academic Journal
Taruscio, Domenica; Salvatore, Marco; Lumaka, Aime; Carta, Claudio; Cellai, Laura L.; Ferrari, Gianluca; Sciascia, Savino; Groft, Stephen; Alanay, Yasemin; Azam, Maleeha; Baynam, Gareth; Cederroth, Helene; de la Paz, Eva Maria; Dissanayake, Vajira Harshadeva Weerabaddana; Giugliani, Roberto; Gonzaga-Jauregui, Claudia; Hettiarachchi, Dineshani; Kvlividze, Oleg; Landoure, Guida; Makay, Prince; Melegh, Bela; Ozbek, Ugur; Puri, Ratna Dua; Romero, Vanessa; Scaria, Vinod; Jamuar, Saumya S.; Shotelersuk, Vorasuk; Roccatello, Dario; Gahl, William A.; Wiafe, Samuel A.; Bodamer, Olaf; Posada, Manuel
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