Search Results - "Samuel Agyei Wiafe"

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    Unlocking sociocultural and community factors for the global adoption of genomic medicine by Chediak, Lynsey, Bedlington, Nicola, Gadson, Ayesha, Kent, Alastair, Khalek, Aiedah Abdul, Rosen, Luke, Rust, Malisa, Shaikh, Mohd Farooq, Tan, Meng Yoe, Wiafe, Samuel Agyei, Baynam, Gareth, Steward, Charles A

    Published in Orphanet journal of rare diseases (12-05-2022)
    “…Advances in genomic sequencing and genetic testing are increasingly transforming the diagnosis and treatment of diseases-specifically, rare diseases. However,…”
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    Journal Article
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    Pfeiffer syndrome type 3 with FGR2 c.1052C>G (p.Ser351Cys) variant in West Africa: a case report by Danso, Kwadwo Apeadu, Akuaku, Rosemary Sefakor, Young, Florence Naa Adoley, Wiafe, Samuel Agyei

    Published in The Pan African medical journal (04-11-2021)
    “…Pfeiffer syndrome is a rare genetic condition that includes anomalies of the head, hands, and feet. It was originally described by Rudolf Pfeiffer in 1964. As…”
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    Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon by 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, Dohi, Eisuke, Erhardsson, Mattias, Fernandez-Luna, Luis, Fujiwara, Toyofumi, Garg, Neha, Giugliani, Roberto, Gonzaga-Jauregui, Claudia, 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, 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, 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

    Published in Nature genetics (2024)
    “…In the first-ever Undiagnosed Hackathon, nearly 100 experts from 28 countries combined advanced phenotyping and genomic techniques for 48 hours, ultimately…”
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    Digit-all: Rare Diseases by Baynam, Gareth, Chediak, Lynsey, Bilkey, Gemma, Gration, Dylan, Wiafe, Samuel Agyei

    Published in European medical journal. Innovations (17-09-2020)
    “…Rare diseases are increasingly recognised as a global public health priority and contribute to significant and disproportionately high health system impacts…”
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    Digit-all: Rare Diseases by Gareth Baynam, Lynsey Chediak, Gemma Bilkey, Dylan Gration, Samuel Agyei Wiafe

    “…Rare diseases are increasingly recognised as a global public health priority and contribute to significant and disproportionately high health system impacts…”
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    Journal Article
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