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

Bimaxillary fixed implant-supported zirconium oxide prosthesis therapy of an adolescent patient with non-syndromic oligodontia and two WNT10 variants: a case report

一例患有非综合征性少牙症和两种WNT10变异的青少年患者采用双颌固定种植体支持氧化锆义齿修复的病例报告

Grün, Pascal; Pfaffeneder-Mantai, Florian; Leunig, Nikolai; Bytyqi, Ditjon; Maier, Cornelia; Gencik, Martin; Bandura, Patrick; Turhani, Dritan

Gene Variants Determine Placental Transfer of Perfluoroalkyl Substances (PFAS), Mercury (Hg) and Lead (Pb), and Birth Outcome: Findings From the UmMuKi Bratislava-Vienna Study

基因变异决定全氟烷基物质 (PFAS)、汞 (Hg) 和铅 (Pb) 的胎盘转运以及出生结局:来自 UmMuKi Bratislava-Vienna 研究的发现

Gundacker, Claudia; Graf-Rohrmeister, Klaudia; Gencik, Martin; Hengstschläger, Markus; Holoman, Karol; Rosa, Petra; Kroismayr, Renate; Offenthaler, Ivo; Plichta, Veronika; Reischer, Theresa; Teufl, Isabella; Raffesberg, Wolfgang; Scharf, Sigrid; Köhler-Vallant, Birgit; Delissen, Zoja; Weiß, Stefan; Uhl, Maria

Report of a Second Lebanese Family with Basel-Vanagaite-Smirin-Yosef Syndrome: Possible Founder Mutation

第二个黎巴嫩家族罹患巴塞尔-瓦纳盖特-斯米林-约瑟夫综合征的报告:可能的创始人突变

Nair, Pratibha; Sabbagh, Sandra; Bizzari, Sami; Brunner, Florian; Stora, Samantha; Al-Ali, Mahmoud T; Gencik, Martin; El-Hayek, Stephany; Mégarbané, André

Myotonic Dystrophy-2: Unusual Phenotype Due to a Small CCTG-expansion

肌强直性营养不良-2:由CCTG小片段扩增引起的异常表型

J, Finsterer; C, Stöllberger; A, Reining-Festa; M, Loewe-Grgurin; M, Gencik

Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes

努南综合征、科斯特洛综合征和心面皮肤综合征患儿的癌症谱及发病率

Kratz, C P; Franke, L; Peters, H; Kohlschmidt, N; Kazmierczak, B; Finckh, U; Bier, A; Eichhorn, B; Blank, C; Kraus, C; Kohlhase, J; Pauli, S; Wildhardt, G; Kutsche, K; Auber, B; Christmann, A; Bachmann, N; Mitter, D; Cremer, F W; Mayer, K; Daumer-Haas, C; Nevinny-Stickel-Hinzpeter, C; Oeffner, F; Schlüter, G; Gencik, M; Überlacker, B; Lissewski, C; Schanze, I; Greene, M H; Spix, C; Zenker, M

Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling

毛鼻指骨综合征的体细胞嵌合现象:对遗传咨询的启示

Corsini, Carole; Gencik, Martin; Willems, Marjolaine; Decker, Eva; Sanchez, Elodie; Puechberty, Jacques; Schneider, Anouck; Girard, Manon; Edery, Patrick; Bretonnes, Patricia; Cottalorda, Jérôme; Lefort, Geneviève; Jeandel, Claire; Sarda, Pierre; Genevieve, David

Parallel testing of several genes (panel-testing) in patients with ectodermal dysplasia using next-generation sequencing

利用新一代测序技术对患有外胚层发育不良的患者进行多个基因的平行检测(基因组检测)。

Belfquih, Hatim; El Mostarchid, Brahim; Oukabli, Mohamed; Akhaddar, Ali; Boucetta, Mohammed; Leeb, Tosso; Guazzarotti, L; Tadini, G; Mancini, GE; Giglio, S; Sani, I; Nannini, P; Bosoni, M; Bottero, A; Caimi, A; Morelli, M; Zuccotti, GV; Montanari, M; Callea, M; Battelli, F; Corinaldesi, G; Sapigni, L; Marchetti, C; Piana, G; Fedele, G; Norderyd, J; Reinert, Siegmar; Callea, M; Yavuz, I; Deroma, L; Montanari, M; Clarich, G; Maglione, M; Albertini, E; Garavelli, L; Bergendal, Birgitta; Kovács, G; Endreffy, E; Maróti, Z; Stanford, Clark M; Toupenay, S; de la Dure, M; Razanamihaja, N; Berdal, A; Boy-Lefèvre, M-L; Gal, Andreas; Bücher, K; Kurtz, KS; Callea, M; Maglione, M; Yavuz, I; Deroma, L; Willoughby, CE; Tadini, G; Divekar, D; Huttner, KM; Grange, DK; Klein, OD; Schneider, H; Thesleff, Irma; Schneider, Holm; Callea, M; Grecchi, F; Carinci, F; Mancini, EG; Fete, Timothy J; Huttner, Kenneth; Dietz, J; Kaercher, T; Schneider, AT; Zimmermann, T; Huttner, K; Johnson, R; Schneider, H; Neukam, Friedrich Wilhelm; Bohring, Axel; Gomez, Karla Padilla; Blum, Elzbieta; Itin, Peter H; Hammersen, Johanna E; McAllister, Anita; Kaercher, Thomas; Weber, Heiner; Gaide, Olivier; Gabriel, HD; Decker, E; Gencik, M

ApoE polymorphisms in narcolepsy

嗜睡症中的ApoE多态性

Gencik, M; Dahmen, N; Wieczorek, S; Kasten, M; Gencikova, A; Epplen, J T

Immunogenetic risk factors for anti-neutrophil cytoplasmic antibody (ANCA)-associated systemic vasculitis

抗中性粒细胞胞浆抗体(ANCA)相关性系统性血管炎的免疫遗传风险因素

Gencik, M; Borgmann, S; Zahn, R; Albert, E; Sitter, T; Epplen, J T; Fricke, H