Pub Date : 2023-12-01DOI: 10.1016/j.ejcped.2023.100056
Josune Zubicaray, Ana Gomez, June Iriondo, Reyes Gimenez, Lorea Abad, Carmen Matasans, Elena Sebastian, Alejandro Sanz, Jesus Gonzalez De Pablo, Manuel Ramirez, Julian Sevilla
{"title":"OPTICAL GENOME MAPPING: A NEW TOOL TO OVERCOME CONVENTIONAL CYTOGENETICS’ LIMITATIONS IN PATIENTS WITH BONE MARROW FAILURE.","authors":"Josune Zubicaray, Ana Gomez, June Iriondo, Reyes Gimenez, Lorea Abad, Carmen Matasans, Elena Sebastian, Alejandro Sanz, Jesus Gonzalez De Pablo, Manuel Ramirez, Julian Sevilla","doi":"10.1016/j.ejcped.2023.100056","DOIUrl":"https://doi.org/10.1016/j.ejcped.2023.100056","url":null,"abstract":"","PeriodicalId":94314,"journal":{"name":"EJC paediatric oncology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772610X23000545/pdfft?md5=926f14cec010fe725d3e182efa3348e3&pid=1-s2.0-S2772610X23000545-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138738627","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-12-01DOI: 10.1016/j.ejcped.2023.100070
Hans-Dajo Von Wulffen , Sheila Bohler , Corinna Spohr , Tilman Brummer , Pierre-Emmanuel Gleizes , Alexander Puzik , Charlotte Niemeyer , Miriam Erlacher
{"title":"ASSOCIATION AND INTERACTIONS OF THE RIO KINASES IN THE CONTEXT OF DIAMOND-BLACKFAN ANEMIA","authors":"Hans-Dajo Von Wulffen , Sheila Bohler , Corinna Spohr , Tilman Brummer , Pierre-Emmanuel Gleizes , Alexander Puzik , Charlotte Niemeyer , Miriam Erlacher","doi":"10.1016/j.ejcped.2023.100070","DOIUrl":"https://doi.org/10.1016/j.ejcped.2023.100070","url":null,"abstract":"","PeriodicalId":94314,"journal":{"name":"EJC paediatric oncology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772610X23000685/pdfft?md5=c9101bd98df22f73d6bf0ed39ec4b553&pid=1-s2.0-S2772610X23000685-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138738842","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-12-01DOI: 10.1016/j.ejcped.2023.100084
Rafael Balceiro , Anita Frisanco Oliveira , Luiz Fernando Lopes , Neysimelia Costa Villela , Marlene Pereira Garanito , Rodrigo Do Tocantins Calado De Saloma Rodrigues
{"title":"TELOMERE LENGHT AND CYTOPENIAS: ANALYSIS OF CHILDREN REFERRED TO BRAZILIAN COOPERATIVE GROUP OF CHILDHOOD MYELODYSPLASTIC SYNDROME","authors":"Rafael Balceiro , Anita Frisanco Oliveira , Luiz Fernando Lopes , Neysimelia Costa Villela , Marlene Pereira Garanito , Rodrigo Do Tocantins Calado De Saloma Rodrigues","doi":"10.1016/j.ejcped.2023.100084","DOIUrl":"https://doi.org/10.1016/j.ejcped.2023.100084","url":null,"abstract":"","PeriodicalId":94314,"journal":{"name":"EJC paediatric oncology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772610X2300082X/pdfft?md5=c1f1e2467812455b4f33d0e7d054c37e&pid=1-s2.0-S2772610X2300082X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138738859","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-12-01DOI: 10.1016/j.ejcped.2023.100072
Foued Ghanjati , Annika Heck , Dirk Lebrecht , Peter Nöllke , Zoé Wehbe , Felicia Andresen , Natalia Rotari , Maximilian Schönung , Daniel Lipka , Miriam Erlacher , European Working Group Of Myelodysplastic Syndromes In Childhood , Charlotte Niemeyer , Christian Flotho
{"title":"IDENTIFICATION OF HIGH-RISK JMML BY BMP4 BISULFITE NEXT-GENERATION SEQUENCING","authors":"Foued Ghanjati , Annika Heck , Dirk Lebrecht , Peter Nöllke , Zoé Wehbe , Felicia Andresen , Natalia Rotari , Maximilian Schönung , Daniel Lipka , Miriam Erlacher , European Working Group Of Myelodysplastic Syndromes In Childhood , Charlotte Niemeyer , Christian Flotho","doi":"10.1016/j.ejcped.2023.100072","DOIUrl":"https://doi.org/10.1016/j.ejcped.2023.100072","url":null,"abstract":"","PeriodicalId":94314,"journal":{"name":"EJC paediatric oncology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772610X23000703/pdfft?md5=b386132bc23edaa3102c32222386004a&pid=1-s2.0-S2772610X23000703-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138738844","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-12-01DOI: 10.1016/j.ejcped.2023.100086
Wolfgang Novak , Alexandra Frohne , Susanne Karlhuber , Raúl Jimenez-Heredia , Leo Kager , Michael Dworzak , Kaan Boztug
{"title":"PITFALLS IN THE DIAGNOSTICS OF SAA/RCC: CAN WHOLE EXOME SEQUENCING LEAD US THE WAY?","authors":"Wolfgang Novak , Alexandra Frohne , Susanne Karlhuber , Raúl Jimenez-Heredia , Leo Kager , Michael Dworzak , Kaan Boztug","doi":"10.1016/j.ejcped.2023.100086","DOIUrl":"https://doi.org/10.1016/j.ejcped.2023.100086","url":null,"abstract":"","PeriodicalId":94314,"journal":{"name":"EJC paediatric oncology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772610X23000843/pdfft?md5=1367b65ccbb071bb9790f41e29c53622&pid=1-s2.0-S2772610X23000843-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138738861","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}