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THE ROLE OF GENETIC COUNSELORS IN BONE MARROW FAILURE: A CASE-BASED APPROACH TO SRP72 AND DHX34 VARIANTS OF UNCLEAR SIGNIFICANCE 遗传咨询师在骨髓衰竭中的作用:一种基于病例的方法研究srp72和dhx34变异的不明确意义
Pub Date : 2025-11-04 DOI: 10.1016/j.ejcped.2025.100374
Passant Shaker, Nathan Gray, Michelle Boals, Kelsey Ray, Melvanique Hale, Sara Lewis, Alyssa Kennedy, Marcin Wlodarski
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引用次数: 0
CANCER AND CANCER PREDISPOSITION SYNDROMES IN A POLISH INHERITED THROMBOCYTOPENIA COHORT 波兰遗传性血小板减少症队列中的癌症和癌症易感综合征
Pub Date : 2025-11-04 DOI: 10.1016/j.ejcped.2025.100376
Bartosz Urbański , Katarzyna Bąbol-Pokora , Szymon Janczar , Magdalena Cienkusz , Michalina Jezierska , Anna Tomoń , Magdalena Bartnik , Grażyna Wróbel , Monika Richert-Przygońska , Grażyna Karolczyk , Katarzyna Adamczewska-Wawrzynowicz , Maciej Sójka , Wojciech Młynarski
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引用次数: 0
CLINICAL SPECTRUM OF AN EGYPTIAN COHORT OF CHILDREN WITH MYELODYSPLASTIC SYNDROME 埃及骨髓增生异常综合征儿童队列的临床谱
Pub Date : 2025-11-04 DOI: 10.1016/j.ejcped.2025.100405
Sara Mostafa Makkeyah , Marwa Waheed Tolba , Elshahhat Ahmed , Menna Allah Zakaria Abou Elwafa , Nihal Hussien Aly
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引用次数: 0
COMPREHENSIVE CHARACTERIZATION OF SOMATIC PTPN11-MUTATED JMML 体细胞ptpn11突变JMML的综合鉴定
Pub Date : 2025-11-04 DOI: 10.1016/j.ejcped.2025.100341
Edoardo Muratore , Valérie de Haas , Dorine Bresters , Christian Flotho , Pierre Goncalves , Mattias Hofmans , Marko Kavcic , Tim Lammens , Daniel B. Lipka , Loizos Petrikkos , Charlotte M. Niemeyer , for the EWOG-MDS JMML Working Group Peter Nöllke , Senthilkumar Ramamoorthy , Dirk Lebrecht , Riccardo Masetti , Maximilian Schönung , EWOG-MDS National Coordinators for EWOG-MDS
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引用次数: 0
CLINICAL CHARACTERISTICS AND OUTCOMES IN CHILDREN WITH SEVERE APLASTIC ANEMIA WHO RECEIVED IMMUNOMODULATORY THERAPY AND/OR TRANSPLANTATION AT THE MISERICORDIA PEDIATRIC HOSPITAL FOUNDATION 2015 TO 2024 2015 - 2024年在misericordia儿科医院基金会接受免疫调节治疗和/或移植的严重再生障碍性贫血儿童的临床特征和结局
Pub Date : 2025-11-04 DOI: 10.1016/j.ejcped.2025.100366
Angelica Maria Delgado Beltran
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引用次数: 0
WHEN A “ZERO” CAN BE A DIAGNOSIS IN PEDIATRICS 在儿科,什么时候“零”可以作为诊断
Pub Date : 2025-11-04 DOI: 10.1016/j.ejcped.2025.100378
Elena Sebastián, Alejandro Sanz, Josune Zubicaray, Guzmán Lopez, Julián Sevilla
{"title":"WHEN A “ZERO” CAN BE A DIAGNOSIS IN PEDIATRICS","authors":"Elena Sebastián, Alejandro Sanz, Josune Zubicaray, Guzmán Lopez, Julián Sevilla","doi":"10.1016/j.ejcped.2025.100378","DOIUrl":"10.1016/j.ejcped.2025.100378","url":null,"abstract":"","PeriodicalId":94314,"journal":{"name":"EJC paediatric oncology","volume":"6 ","pages":"Article 100378"},"PeriodicalIF":0.0,"publicationDate":"2025-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145428564","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
IMPROVED DISEASE FREE SURVIVAL IN JMML. THE DUTCH EXPERIENCE. 提高jmml的无病生存率。荷兰的经验。
Pub Date : 2025-11-04 DOI: 10.1016/j.ejcped.2025.100383
Dorine Bresters , Valérie de Haas , Martine Mol , Katja Heitink , Arjenne Kors , Mirjam Belderbos , Marco Koudijs , Esmé Waanders , Kirsten Thus , Marc Bierings
{"title":"IMPROVED DISEASE FREE SURVIVAL IN JMML. THE DUTCH EXPERIENCE.","authors":"Dorine Bresters , Valérie de Haas , Martine Mol , Katja Heitink , Arjenne Kors , Mirjam Belderbos , Marco Koudijs , Esmé Waanders , Kirsten Thus , Marc Bierings","doi":"10.1016/j.ejcped.2025.100383","DOIUrl":"10.1016/j.ejcped.2025.100383","url":null,"abstract":"","PeriodicalId":94314,"journal":{"name":"EJC paediatric oncology","volume":"6 ","pages":"Article 100383"},"PeriodicalIF":0.0,"publicationDate":"2025-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145428569","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
TELOMERE BIOLOGY DISORDERS: PHENOTYPE AND GENETIC FINDINGS 端粒生物学疾病:表型和遗传发现
Pub Date : 2025-11-04 DOI: 10.1016/j.ejcped.2025.100392
Tekin Aksu, Esma Nur Unal, Selin Aytac, Sule Unal
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引用次数: 0
MYELODYSPLASTIC SYNDROME IN CHILDHOOD: THE HACETTEPE COHORT 儿童骨髓增生异常综合征:hacettepe队列
Pub Date : 2025-11-04 DOI: 10.1016/j.ejcped.2025.100407
Tekin Aksu, Fatma Ugur, Sule Unal, Barış Kuskonmaz, Selin Aytac
{"title":"MYELODYSPLASTIC SYNDROME IN CHILDHOOD: THE HACETTEPE COHORT","authors":"Tekin Aksu, Fatma Ugur, Sule Unal, Barış Kuskonmaz, Selin Aytac","doi":"10.1016/j.ejcped.2025.100407","DOIUrl":"10.1016/j.ejcped.2025.100407","url":null,"abstract":"","PeriodicalId":94314,"journal":{"name":"EJC paediatric oncology","volume":"6 ","pages":"Article 100407"},"PeriodicalIF":0.0,"publicationDate":"2025-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145428625","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
THE GENOMIC LANDSCAPE OF JUVENILE MYELOMONOCYTIC LEUKEMIA ON WHOLE EXOME SEQUENCING 基于全外显子组测序的青少年髓细胞白血病基因组景观
Pub Date : 2025-11-04 DOI: 10.1016/j.ejcped.2025.100408
Aditya Kumar Gupta , Ravi Kumar Majhi , Harsh Goel , Harshita Makkar , Pranay Tanwar , Anita Chopra , Meena Jagdish Prasad , Sameer Bhakshi , Seth Rachna
{"title":"THE GENOMIC LANDSCAPE OF JUVENILE MYELOMONOCYTIC LEUKEMIA ON WHOLE EXOME SEQUENCING","authors":"Aditya Kumar Gupta , Ravi Kumar Majhi , Harsh Goel , Harshita Makkar , Pranay Tanwar , Anita Chopra , Meena Jagdish Prasad , Sameer Bhakshi , Seth Rachna","doi":"10.1016/j.ejcped.2025.100408","DOIUrl":"10.1016/j.ejcped.2025.100408","url":null,"abstract":"","PeriodicalId":94314,"journal":{"name":"EJC paediatric oncology","volume":"6 ","pages":"Article 100408"},"PeriodicalIF":0.0,"publicationDate":"2025-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145428626","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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EJC paediatric oncology
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