학술논문
'학술논문'
에서 검색결과 18건 | 목록
1~10
Academic Journal
In: Journal of Community Genetics . (Journal of Community Genetics, 2024)
Academic Journal
Cayami, F.K.; Claeys, L.; Wisse, L.; Bogunovic, N.; Riesebos, E.; Eken, L.; Kooi, I.; Sistermans, E.A.; Pals, G.; Sie, D.; Micha, D.; Faradz, S.M.H.; de Ruiter, R.; Smilde, B.J.; Eekhoff, E.M.W.; Bravenboer, N.
In: Scientific Reports . (Scientific Reports, December 2022, 12(1))
Academic Journal
In: Intractable and Rare Diseases Research . (Intractable and Rare Diseases Research, 2024, 13(2):121-125)
Academic Journal
In: Journal of Intellectual Disability - Diagnosis and Treatment . (Journal of Intellectual Disability - Diagnosis and Treatment, 2022, 10(6):315-321)
Academic Journal
In: Journal of Infection in Developing Countries . (Journal of Infection in Developing Countries, 2022, 16(8):1278-1284)
Academic Journal
In: BMC Medical Education . (BMC Medical Education, December 2021, 21(1))
Academic Journal
In: Research in Developmental Disabilities . (Research in Developmental Disabilities, November 2021, 118)
Academic Journal
Pelletier, F.; Perrier, S.; Mirchi, A.; Tran, L.T.; Guerrero, K.; Brais, B.; Bernard, G.; Rampakakis, E.; Sébire, G.; Cayami, F.K.; Van Der Knaap, M.S.; Wolf, N.I.; Saikali, S.; Ulrick, N.; Vanderver, A.; Van Spaendonk, R.M.L.; Naidu, S.; Pohl, D.; Gibson, W.T.; Demos, M.; Goizet, C.; Tejera-Martin, I.; Monton, F.I.; Rodriguez Espinosa, N.; Potic, A.; Fogel, B.L.; Sylvain, M.; Lourenço, C.M.; Bonkowsky, J.L.; Catsman-Berrevoets, C.; Pinto, P.S.; Tirupathi, S.; Strømme, P.; De Grauw, T.; Gieruszczak-Bialek, D.; Krägeloh-Mann, I.; Mierzewska, H.; Philippi, H.; Rankin, J.; Atik, T.; Banwell, B.; Benko, W.S.; Blaschek, A.; Bley, A.; Boltshauser, E.; Bratkovic, D.; Brozova, K.; Cimas, I.; Clough, C.; Corenblum, B.; Dinopoulos, A.; Dolan, G.; Faletra, F.; Fernandez, R.; Fletcher, J.; Garcia Garcia, M.E.; Gasparini, P.; Gburek-Augustat, J.; Gonzalez Moron, D.; Hamati, A.; Harting, I.; Hertzberg, C.; Hill, A.; Hobson, G.M.; Innes, A.M.; Kauffman, M.; Kirwin, S.M.; Kluger, G.; Kolditz, P.; Kotzaeridou, U.; La Piana, R.; Liston, E.; McClintock, W.; McEntagart, M.; McKenzie, F.; Melançon, S.; Misbahuddin, A.; Suri, M.; Moutton, S.; Murphy, R.P.J.; Nickel, M.; Onay, H.; Orcesi, S.; Özklnay, F.; Patzer, S.; Pedro, H.; Pekic, S.; Pineda Marfa, M.; Pizzino, A.; Plecko, B.; Poll-The, B.T.; Popovic, V.; Rating, D.; Rioux, M.-F.; Ronan, A.; Ostergaard, J.R.; Rossignol, E.; Sanchez-Carpintero, R.; Schossig, A.; Senbil, N.; Sønderberg Roos, L.K.; Stevens, C.A.; Synofzik, M.; Sztriha, L.; Tibussek, D.; Timmann, D.; Tonduti, D.; Van De Warrenburg, B.P.; Vázquez-López, M.; Venkateswaran, S.; Wasling, P.; Wassmer, E.; Webster, R.I.; Wiegand, G.; Yoon, G.; Rotteveel, J.; Schiffmann, R.; Martos-Moreno, G.Á.; Polychronakos, C.
In: Journal of Clinical Endocrinology and Metabolism . (Journal of Clinical Endocrinology and Metabolism, 1 February 2021, 106(2):E660-E674)
Academic Journal
Nepal, A.K.; van Essen, H.W.; Bravenboer, N.; van der Veen, A.J.; van Wieringen, W.N.; Stavenuiter, A.W.D.; Cayami, F.K.; Pals, G.; Micha, D.; Vanderschueren, D.; Lips, P.
In: Journal of Orthopaedic Research . (Journal of Orthopaedic Research, January 2021, 39(1):42-52)
The first family with adult osteogenesis imperfecta caused by a novel homozygous mutation in CREB3L1
Academic Journal
Cayami, F.K.; Maugeri, A.; Pals, G.; Micha, D.; Faradz, S.M.; Treurniet, S.; Eekhoff, E.M.W.; Setijowati, E.D.; Teunissen, B.P.
In: Molecular Genetics and Genomic Medicine . (Molecular Genetics and Genomic Medicine, August 2019, 7(8))
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제한된 항목
[AR] Cayami, F.K.
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