日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Knowledge of genetics and attitudes toward genetic testing among university students in Indonesia

印度尼西亚大学生遗传学知识及对基因检测的态度

Hermanto, Iskandar; Chandra, Cindy Kurniawati; Utari, Agustini; Winarni, Tri Indah; Cayami, Ferdy Kurniawan

Critical issue in the identification of Down syndrome and its problems in Central Java, Indonesia: The fact of needing health care and better management

印度尼西亚中爪哇省唐氏综合征识别及其相关问题的关键在于:亟需医疗保健和更好的管理。

Utari, Agustini; Cayami, Ferdy Kurniawan; Rahardjo, Tithasiri Audi; Sabatini, Selvia Eva; Ulvyana, Vynda; Winarni, Tri Indah

Osteogenic transdifferentiation of primary human fibroblasts to osteoblast-like cells with human platelet lysate

利用人血小板裂解物进行原代人成纤维细胞向成骨细胞样细胞的成骨转分化

Ferdy K Cayami #, Lauria Claeys #, Ruben de Ruiter, Bernard J Smilde, Lisanne Wisse, Natalija Bogunovic, Elise Riesebos, Lyra Eken, Irsan Kooi, Erik A Sistermans, Nathalie Bravenboer, Gerard Pals, Sultana M H Faradz, Daoud Sie, E Marelise W Eekhoff, Dimitra Micha

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

由POLR3A、POLR3B和POLR1C基因变异引起的4H脑白质营养不良的内分泌和生长异常

Pelletier, Félixe; Perrier, Stefanie; Cayami, Ferdy K; Mirchi, Amytice; Saikali, Stephan; Tran, Luan T; Ulrick, Nicole; Guerrero, Kether; Rampakakis, Emmanouil; van Spaendonk, Rosalina M L; Naidu, Sakkubai; Pohl, Daniela; Gibson, William T; Demos, Michelle; Goizet, Cyril; Tejera-Martin, Ingrid; Potic, Ana; Fogel, Brent L; Brais, Bernard; Sylvain, Michel; Sébire, Guillaume; Lourenço, Charles Marques; Bonkowsky, Joshua L; Catsman-Berrevoets, Coriene; Pinto, Pedro S; Tirupathi, Sandya; Strømme, Petter; de Grauw, Ton; Gieruszczak-Bialek, Dorota; Krägeloh-Mann, Ingeborg; Mierzewska, Hanna; Philippi, Heike; Rankin, Julia; Atik, Tahir; Banwell, Brenda; Benko, William S; Blaschek, Astrid; Bley, Annette; Boltshauser, Eugen; Bratkovic, Drago; Brozova, Klara; Cimas, Icíar; Clough, Christopher; Corenblum, Bernard; Dinopoulos, Argirios; Dolan, Gail; Faletra, Flavio; Fernandez, Raymond; Fletcher, Janice; Garcia Garcia, Maria Eugenia; Gasparini, Paolo; Gburek-Augustat, Janina; Gonzalez Moron, Dolores; Hamati, Aline; Harting, Inga; Hertzberg, Christoph; Hill, Alan; Hobson, Grace M; Innes, A Micheil; Kauffman, Marcelo; Kirwin, Susan M; Kluger, Gerhard; Kolditz, Petra; Kotzaeridou, Urania; La Piana, Roberta; Liston, Eriskay; McClintock, William; McEntagart, Meriel; McKenzie, Fiona; Melançon, Serge; Misbahuddin, Anjum; Suri, Mohnish; Monton, Fernando I; Moutton, Sebastien; Murphy, Raymond P J; Nickel, Miriam; Onay, Hüseyin; Orcesi, Simona; Özkınay, Ferda; Patzer, Steffi; Pedro, Helio; Pekic, Sandra; Pineda Marfa, Mercedes; Pizzino, Amy; Plecko, Barbara; Poll-The, Bwee Tien; Popovic, Vera; Rating, Dietz; Rioux, Marie-France; Rodriguez Espinosa, Norberto; Ronan, Anne; Ostergaard, John R; Rossignol, Elsa; Sanchez-Carpintero, Rocio; Schossig, Anna; Senbil, Nesrin; Sønderberg Roos, Laura K; Stevens, Cathy A; Synofzik, Matthis; Sztriha, László; Tibussek, Daniel; Timmann, Dagmar; Tonduti, Davide; van de Warrenburg, Bart P; Vázquez-López, Maria; Venkateswaran, Sunita; Wasling, Pontus; Wassmer, Evangeline; Webster, Richard I; Wiegand, Gert; Yoon, Grace; Rotteveel, Joost; Schiffmann, Raphael; van der Knaap, Marjo S; Vanderver, Adeline; Martos-Moreno, Gabriel Á; Polychronakos, Constantin; Wolf, Nicole I; Bernard, Geneviève

Familiarity and genetic literacy among medical students in Indonesia

印度尼西亚医学生对遗传学的熟悉程度和认知水平

Swandayani, Yolanda Marthia; Cayami, Ferdy Kurniawan; Winarni, Tri Indah; Utari, Agustini

Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants

由双等位基因POLR1C致病变异引起的POLR3相关脑白质营养不良的临床谱

Gauquelin, Laurence; Cayami, Ferdy K; Sztriha, László; Yoon, Grace; Tran, Luan T; Guerrero, Kether; Hocke, François; van Spaendonk, Rosalina M L; Fung, Eva L; D'Arrigo, Stefano; Vasco, Gessica; Thiffault, Isabelle; Niyazov, Dmitriy M; Person, Richard; Lewis, Kara Stuart; Wassmer, Evangeline; Prescott, Trine; Fallon, Penny; McEntagart, Meriel; Rankin, Julia; Webster, Richard; Philippi, Heike; van de Warrenburg, Bart; Timmann, Dagmar; Dixit, Abhijit; Searle, Claire; Thakur, Nivedita; Kruer, Michael C; Sharma, Suvasini; Vanderver, Adeline; Tonduti, Davide; van der Knaap, Marjo S; Bertini, Enrico; Goizet, Cyril; Fribourg, Sébastien; Wolf, Nicole I; Bernard, Geneviève

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1

与 AIFM1 突变相关的 X 连锁髓鞘形成低下伴脊椎干骺端发育不良 (H-SMD)

Noriko Miyake, Nicole I Wolf, Ferdy K Cayami, Joanna Crawford, Annette Bley, Dorothy Bulas, Alex Conant, Stephen J Bent, Karen W Gripp, Andreas Hahn, Sean Humphray, Shihoko Kimura-Ohba, Zoya Kingsbury, Bryan R Lajoie, Dennis Lal, Dimitra Micha, Amy Pizzino, Richard J Sinke, Deborah Sival, Irene Stol

Diffuse hypomyelination is not obligate for POLR3-related disorders

弥漫性髓鞘发育不良并非POLR3相关疾病的必要条件。

La Piana, Roberta; Cayami, Ferdy K; Tran, Luan T; Guerrero, Kether; van Spaendonk, Rosalina; Õunap, Katrin; Pajusalu, Sander; Haack, Tobias; Wassmer, Evangeline; Timmann, Dagmar; Mierzewska, Hanna; Poll-Thé, Bwee T; Patel, Chirag; Cox, Helen; Atik, Tahir; Onay, Huseyin; Ozkınay, Ferda; Vanderver, Adeline; van der Knaap, Marjo S; Wolf, Nicole I; Bernard, Geneviève