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

Longitudinal Dietary Intake Data in Patients with Phenylketonuria from Europe: The Impact of Age and Phenylketonuria Severity

欧洲苯丙酮尿症患者的纵向膳食摄入数据：年龄和苯丙酮尿症严重程度的影响

期刊:Nutrients
影响因子:5
doi:10.3390/nu16172909
Pinto, Alex; Ahring, Kirsten; Almeida, Manuela Ferreira; Ashmore, Catherine; Bélanger-Quintana, Amaya; Burlina, Alberto; Coşkun, Turgay; Daly, Anne; van Dam, Esther; Dursun, Ali; Evans, Sharon; Feillet, François; Giżewska, Maria; Gökmen-Özel, Hulya; Hickson, Mary; Hoekstra, Yteke; Ilgaz, Fatma; Jackson, Richard; Leśniak, Alicja; Loro, Christian; Malicka, Katarzyna; Patalan, Michał; Rocha, Júlio César; Sivri, Serap; Rodenburg, Iris; van Spronsen, Francjan; Strączek, Kamilla; Tokatli, Ayşegül; MacDonald, Anita
发表日期：2024
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Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018: Is It a Changing Landscape?

2012 年至 2018 年欧洲苯丙酮尿症患者的血液苯丙氨酸水平：情况是否正在发生变化？

期刊:Nutrients
影响因子:5
doi:10.3390/nu16132064
Pinto, Alex; Ahring, Kirsten; Almeida, Manuela Ferreira; Ashmore, Catherine; Bélanger-Quintana, Amaya; Burlina, Alberto; Coşkun, Turgay; Daly, Anne; van Dam, Esther; Dursun, Ali; Evans, Sharon; Feillet, François; Giżewska, Maria; Gökmen-Özel, Hulya; Hickson, Mary; Hoekstra, Yteke; Ilgaz, Fatma; Jackson, Richard; Leśniak, Alicja; Loro, Christian; Malicka, Katarzyna; Patalan, Michał; Rocha, Júlio César; Sivri, Serap; Rodenburg, Iris; van Spronsen, Francjan; Strączek, Kamilla; Tokatli, Ayşegül; MacDonald, Anita
发表日期：2024
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The Clinical Heterogeneity of Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1)-A Report of Three Cases, Including Twins

脊髓性肌萎缩症伴呼吸窘迫1型（SMARD1）的临床异质性——三例病例报告，包括一对双胞胎

期刊:Genes
影响因子:2.8
doi:10.3390/genes15080997
Leśniak, Alicja; Glińska, Marta; Patalan, Michał; Ostrowska, Iwona; Świrska-Sobolewska, Monika; Giżewska-Kacprzak, Kaja; Kotkowiak, Agata; Leśniak, Anna; Walczak, Mieczysław; Śmigiel, Robert; Giżewska, Maria
神经科学
肌萎缩症
发表日期：2024
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Application of Original Therapy for Stimulation of Oral Areas Innervated by the Trigeminal Nerve in a Child with Beckwith-Wiedemann Syndrome

将原创疗法应用于贝克威思-威德曼综合征患儿三叉神经支配的口腔区域刺激治疗

期刊:Brain Sciences
影响因子:2.8
doi:10.3390/brainsci13050829
Pawlukowska, Wioletta; Patalan, Michał; Bagińska, Ewelina; Giżewska, Maria; Masztalewicz, Marta
发表日期：2023
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Phenylketonuria Patients' and Their Caregivers' Perception of the Pandemic Lockdown: The Results of a National Online Survey

苯丙酮尿症患者及其照护者对疫情封锁的看法：一项全国性在线调查的结果

期刊:Children-Basel
影响因子:2.1
doi:10.3390/children9020131
Walkowiak, Dariusz; Mikołuć, Bożena; Mozrzymas, Renata; Kałużny, Łukasz; Didycz, Bożena; Korycińska-Chaaban, Dorota; Patalan, Michał; Jagłowska, Joanna; Chrobot, Agnieszka; Staszewski, Rafał; Walkowiak, Jarosław
发表日期：2022
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Newborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience From the First 14 Months of Collaboration

波兰-德国跨境地区新生儿重症联合免疫缺陷病及其他严重原发性免疫缺陷病筛查：合作前14个月的经验

期刊:Frontiers in Immunology
影响因子:5.9
doi:10.3389/fimmu.2020.01948
Giżewska, Maria; Durda, Katarzyna; Winter, Theresa; Ostrowska, Iwona; Ołtarzewski, Mariusz; Klein, Jeannette; Blankenstein, Oliver; Romanowska, Hanna; Krzywińska-Zdeb, Elżbieta; Patalan, Michał Filip; Bartkowiak, Elżbieta; Szczerba, Natalia; Seiberling, Stefan; Birkenfeld, Bożena; Nauck, Matthias; von Bernuth, Horst; Meisel, Christian; Bernatowska, Ewa Anna; Walczak, Mieczysław; Pac, Małgorzata
免疫/内分泌
发表日期：2020
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Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring

NLRP 和其他母体效应蛋白的母系变异与子代多位点印记紊乱有关

期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmedgenet-2017-105190
Begemann, Matthias; Rezwan, Faisal I; Beygo, Jasmin; Docherty, Louise E; Kolarova, Julia; Schroeder, Christopher; Buiting, Karin; Chokkalingam, Kamal; Degenhardt, Franziska; Wakeling, Emma L; Kleinle, Stephanie; González Fassrainer, Daniela; Oehl-Jaschkowitz, Barbara; Turner, Claire L S; Patalan, Michal; Gizewska, Maria; Binder, Gerhard; Bich Ngoc, Can Thi; Chi Dung, Vu; Mehta, Sarju G; Baynam, Gareth; Hamilton-Shield, Julian P; Aljareh, Sara; Lokulo-Sodipe, Oluwakemi; Horton, Rachel; Siebert, Reiner; Elbracht, Miriam; Temple, Isabel Karen; Eggermann, Thomas; Mackay, Deborah J G
发表日期：2018
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Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans

NLRP5基因突变与人类生殖功能丧失和多位点印记障碍有关。

期刊:Nature Communications
影响因子:15.7
doi:10.1038/ncomms9086
Docherty, Louise E; Rezwan, Faisal I; Poole, Rebecca L; Turner, Claire L S; Kivuva, Emma; Maher, Eamonn R; Smithson, Sarah F; Hamilton-Shield, Julian P; Patalan, Michal; Gizewska, Maria; Peregud-Pogorzelski, Jaroslaw; Beygo, Jasmin; Buiting, Karin; Horsthemke, Bernhard; Soellner, Lukas; Begemann, Matthias; Eggermann, Thomas; Baple, Emma; Mansour, Sahar; Temple, I Karen; Mackay, Deborah J G
LRP5
发表日期：2015
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