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

The NBN founder mutation-Evidence for a country specific difference in age at cancer manifestation

NBN创始人突变——癌症发病年龄存在国家特异性差异的证据

Chrzanowska, Krystyna H; Seemanova, Eva; Varon, Raymonda; Digweed, Martin; Piekutowska-Abramczuk, Dorota; Sperling, Karl; Seeman, Pavel

Telomere attrition and dysfunction: a potential trigger of the progeroid phenotype in nijmegen breakage syndrome

端粒磨损和功能障碍:奈梅亨断裂综合征中早衰表型的潜在诱因

Raneem Habib, Ryong Kim, Heidemarie Neitzel, Ilja Demuth, Krystyna Chrzanowska, Eva Seemanova, Renaldo Faber, Martin Digweed, Reinhard Voss, Kathrin Jäger, Karl Sperling, Michael Walter1

The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?

斯拉夫NBN创始突变:对生殖适应性有何作用?

Seemanova, Eva; Varon, Raymonda; Vejvalka, Jan; Jarolim, Petr; Seeman, Pavel; Chrzanowska, Krystyna H; Digweed, Martin; Resnick, Igor; Kremensky, Ivo; Saar, Kathrin; Hoffmann, Katrin; Dutrannoy, Véronique; Karbasiyan, Mohsen; Ghani, Mehdi; Barić, Ivo; Tekin, Mustafa; Kovacs, Peter; Krawczak, Michael; Reis, André; Sperling, Karl; Nothnagel, Michael

An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome

在患有智力障碍和痉挛性四肢瘫的兄弟姐妹中发现的AP4B1移码突变进一步阐明了AP-4缺陷综合征。

Abdollahpour, Hengameh; Alawi, Malik; Kortüm, Fanny; Beckstette, Michael; Seemanova, Eva; Komárek, Vladimír; Rosenberger, Georg; Kutsche, Kerstin

Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome

影响SOS2双同源结构域的激活突变会导致努南综合征

Cordeddu, Viviana; Yin, Jiani C; Gunnarsson, Cecilia; Virtanen, Carl; Drunat, Séverine; Lepri, Francesca; De Luca, Alessandro; Rossi, Cesare; Ciolfi, Andrea; Pugh, Trevor J; Bruselles, Alessandro; Priest, James R; Pennacchio, Len A; Lu, Zhibin; Danesh, Arnavaz; Quevedo, Rene; Hamid, Alaa; Martinelli, Simone; Pantaleoni, Francesca; Gnazzo, Maria; Daniele, Paola; Lissewski, Christina; Bocchinfuso, Gianfranco; Stella, Lorenzo; Odent, Sylvie; Philip, Nicole; Faivre, Laurence; Vlckova, Marketa; Seemanova, Eva; Digilio, Cristina; Zenker, Martin; Zampino, Giuseppe; Verloes, Alain; Dallapiccola, Bruno; Roberts, Amy E; Cavé, Hélène; Gelb, Bruce D; Neel, Benjamin G; Tartaglia, Marco

A mutation in the c-fos gene associated with congenital generalized lipodystrophy

c-fos基因突变与先天性全身性脂肪营养不良症相关

Knebel, Birgit; Kotzka, Jorg; Lehr, Stefan; Hartwig, Sonja; Avci, Haluk; Jacob, Sylvia; Nitzgen, Ulrike; Schiller, Martina; März, Winfried; Hoffmann, Michael M; Seemanova, Eva; Haas, Jutta; Muller-Wieland, Dirk

Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies

Hallermann-Streiff 综合征:没有证据表明其与核纤层蛋白病有关

F Kortüm, M Chyrek, S Fuchs, B Albrecht, G Gillessen-Kaesbach, U Mütze, E Seemanova, S Tinschert, D Wieczorek, G Rosenberger, K Kutsche

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

血小板减少-桡骨缺失综合征的复杂遗传模式类似于常染色体隐性遗传,涉及微缺失。

Klopocki, Eva; Schulze, Harald; Strauss, Gabriele; Ott, Claus-Eric; Hall, Judith; Trotier, Fabienne; Fleischhauer, Silke; Greenhalgh, Lynn; Newbury-Ecob, Ruth A; Neumann, Luitgard M; Habenicht, Rolf; König, Rainer; Seemanova, Eva; Megarbane, André; Ropers, Hans-Hilger; Ullmann, Reinhard; Horn, Denise; Mundlos, Stefan

Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy

Berardinelli-Seip先天性脂肪营养不良的基因型-表型关系

Van Maldergem, L; Magré, J; Khallouf, T E; Gedde-Dahl, T Jr; Delépine, M; Trygstad, O; Seemanova, E; Stephenson, T; Albott, C S; Bonnici, F; Panz, V R; Medina, J L; Bogalho, P; Huet, F; Savasta, S; Verloes, A; Robert, J J; Loret, H; De Kerdanet, M; Tubiana-Rufi, N; Mégarbané, A; Maassen, J; Polak, M; Lacombe, D; Kahn, C R; Silveira, E L; D'Abronzo, F H; Grigorescu, F; Lathrop, M; Capeau, J; O'Rahilly, S