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

Red Deer Resequencing Reveals the Importance of Sex Chromosomes for Reconstructing Late Quaternary Events

红鹿重测序揭示了性染色体在重建晚第四纪事件中的重要性

de Jong, Menno J; Anaya, Gabriel; Niamir, Aidin; Pérez-González, Javier; Broggini, Camilla; Del Pozo, Alberto Membrillo; Nebenfuehr, Marcel; de la Peña, Eva; Ruiz-Olmo, Jordi; Seoane, Jose Manuel; Vedel, Giovanni; Barboiron, Aurelie; Bartoš, Luděk; Buzan, Elena; Carden, Ruth F; Darchiashvili, Giorgi; Frantz, Alain C; Gačić, Dragan; Gérard, Adrien; Gort-Esteve, Araceli; Guillaumat, Etienne; Hantschmann, Anja; Hemami, Mahmoud-Reza; Höglund, Jacob; de Jong, Joost F; Karaiskou, Nikoleta; Kerdikoshvili, Niko; Kern, Christian; Konjevic, Dean; Koubek, Petr; Krojerová-Prokešová, Jarmila; McDevitt, Allan D; Merker, Stefan; Pellerin, Maryline; Pfenninger, Markus; Røed, Knut H; Saint-Andrieux, Christine; Sarigol, Fatih; Sykut, Maciej; Triantafyllidis, Alexandros; Pemberton, Josephine; Saarma, Urmas; Iacolina, Laura; Niedziałkowska, Magdalena; Zachos, Frank E; Carranza, Juan; Janke, Axel

Health and well-being of maturing adults with classic galactosemia

经典型半乳糖血症成年患者的健康和福祉

Garrett, Olivia S; Druss, Jared J; Vos, E Naomi; Fu, Yu-Ting Debbie; Lucia, Stephanie; Greenstein, Patricia E; Bauer, Anna; Sykut-Cegielska, Jolanta; Stepien, Karolina M; Arbuckle, Cameron; Grafakou, Olga; Meyer, Uta; Vanhoutvin, Nele; Pané, Adriana; Bosch, Annet M; Rubio-Gozalbo, Estela; Berry, Gerard T; Fridovich-Keil, Judith L

Fate and preservation of the late pleistocene cave bears from Niedźwiedzia Cave in Poland, through taphonomy, pathology, and geochemistry

通过埋藏学、病理学和地球化学研究波兰涅兹维杰亚洞穴晚更新世洞熊的命运和保存状况

Marciszak, Adrian; Mackiewicz, Paweł; Borówka, Ryszard K; Capalbo, Chiara; Chibowski, Piotr; Gąsiorowski, Michał; Hercman, Helena; Cedro, Bernard; Kropczyk, Aleksandra; Gornig, Wiktoria; Moska, Piotr; Nowakowski, Dariusz; Ratajczak-Skrzatek, Urszula; Sobczyk, Artur; Sykut, Maciej T; Zarzecka-Szubińska, Katarzyna; Kovalchuk, Oleksandr; Barkaszi, Zoltán; Stefaniak, Krzysztof; Mazza, Paul P A

Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG

基因型/表型关系:来自 137 例 PMM2-CDG 患者的启示

Pajusalu, Sander; Vals, Mari-Anne; Serrano, Mercedes; Witters, Peter; Cechova, Anna; Honzik, Tomáš; Edmondson, Andrew C; Ficicioglu, Can; Barone, Rita; De Lonlay, Pascale; Bérat, Claire-Marine; Vuillaumier-Barrot, Sandrine; Lam, Christina; Patterson, Marc C; Janssen, Mirian C H; Martins, Esmeralda; Quelhas, Dulce; Sykut-Cegielska, Jolanta; Mousa, Jehan; Urreizti, Roser; McWilliams, Peter; Vernhes, Frederique; Plotkin, Horacio; Morava, Eva; Õunap, Katrin

2024 Polish recommendations for the management of familial hypercholesterolemia in children and adolescents

2024年波兰关于儿童和青少年家族性高胆固醇血症管理的建议

Myśliwiec, Małgorzata; Bandura, Marta; Wołoszyn-Durkiewicz, Anna; Hennig, Matylda; Walczak, Mieczysław; Peregud-Pogorzelski, Jarosław; Sykut-Cegielska, Jolanta; Miszczak-Knecht, Maria; Chlebus, Krzysztof; Wasąg, Bartosz; Zmysłowska, Agnieszka; Banach, Maciej

The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role

芳香族氨基酸脱羧酶的新型 P330L 致病变异体位于其关键作用的催化柔性环上

Giovanni Bisello, Katarzyna Kusmierska, Marcel M Verbeek, Jolanta Sykut-Cegielska, Michèl A A P Willemsen, Ron A Wevers, Krystyna Szymańska, Jarosław Poznanski, Jakub Drozak, Katarzyna Wertheim-Tysarowska, Agnieszka Magdalena Rygiel, Mariarita Bertoldi

Molecular Background and Disease Prevalence of Biotinidase Deficiency in a Polish Population-Data Based on the National Newborn Screening Programme

波兰人群中生物素酶缺乏症的分子背景和疾病患病率——基于国家新生儿筛查计划的数据

Jezela-Stanek, Aleksandra; Suchoń, Lidia; Sobczyńska-Tomaszewska, Agnieszka; Czerska, Kamila; Kuśmierska, Katarzyna; Taybert, Joanna; Ołtarzewski, Mariusz; Sykut-Cegielska, Jolanta

Multidisciplinary Care of Patients with Inherited Metabolic Diseases and Epilepsy: Current Perspectives

遗传代谢病合并癫痫患者的多学科诊疗:当前观点

Tumienė, Birutė; Del Toro Riera, Mireia; Grikiniene, Jurgita; Samaitiene-Aleknienė, Rūta; Praninskienė, Rūta; Monavari, Ahmad Ardeshir; Sykut-Cegielska, Jolanta

International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management

磷酸葡萄糖变位酶1缺乏症(PGM1-CDG)国际共识指南:诊断、随访和治疗

Altassan, Ruqaiah; Radenkovic, Silvia; Edmondson, Andrew C; Barone, Rita; Brasil, Sandra; Cechova, Anna; Coman, David; Donoghue, Sarah; Falkenstein, Kristina; Ferreira, Vanessa; Ferreira, Carlos; Fiumara, Agata; Francisco, Rita; Freeze, Hudson; Grunewald, Stephanie; Honzik, Tomas; Jaeken, Jaak; Krasnewich, Donna; Lam, Christina; Lee, Joy; Lefeber, Dirk; Marques-da-Silva, Dorinda; Pascoal, Carlota; Quelhas, Dulce; Raymond, Kimiyo M; Rymen, Daisy; Seroczynska, Malgorzata; Serrano, Mercedes; Sykut-Cegielska, Jolanta; Thiel, Christian; Tort, Frederic; Vals, Mari-Anne; Videira, Paula; Voermans, Nicol; Witters, Peter; Morava, Eva

Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?

是否应该对患有磷酸甘露糖变位酶 2-CDG (PMM2-CDG) 的患者进行肾上腺功能不全筛查?

Čechová, Anna; Honzík, Tomáš; Edmondson, Andrew C; Ficicioglu, Can; Serrano, Mercedes; Barone, Rita; De Lonlay, Pascale; Schiff, Manuel; Witters, Peter; Lam, Christina; Patterson, Marc; Janssen, Mirian C H; Correia, Joana; Quelhas, Dulce; Sykut-Cegielska, Jolanta; Plotkin, Horacio; Morava, Eva; Sarafoglou, Kyriakie