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33: A diagnostic challenge: Can high hyperdiploidy B-lymphoblastic leukemia/lymphoma with double trisomy possibly obscure BCR::ABL1-like fusions 33：诊断挑战：高高二倍体b淋巴母细胞白血病/淋巴瘤伴双三体是否可能模糊BCR:: abl1样融合
Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2024.101950
Kun Zhao, Rebecca Smith, Meng-Chang Hsiao, Richard Ricardo, Monica Guardado, Tori Leftwich, Brian Shuler, Rhonda Bachman, Debra Friedman, Scott C. Borinstein, Kaleigh Hall, Christine M. Smith, Elliott Denney, Ashwini K. Yenamandra
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引用次数: 0
11: To remap or not to remap: the relevance of the genome references to resolve rare inversions 重新绘制或不重新绘制：基因组参考的相关性解决罕见的倒置
Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2024.101928
Claudia M.B. Carvalho , Kristine Bilgrav Saether , Jesse Bengtsson , Jesper Eisfeldt , Ming Yin Lun , Jakob Schuy , Medhat Mahmoud , Christopher M. Grochowski , Davut Pehlivan , Fritz J. Sedlazeck , Jill A. Rosenfeld , Pengfei Liu , Weimin Bi , Ronit Marom , Anna Lindstrand
{"title":"11: To remap or not to remap: the relevance of the genome references to resolve rare inversions","authors":"Claudia M.B. Carvalho , Kristine Bilgrav Saether , Jesse Bengtsson , Jesper Eisfeldt , Ming Yin Lun , Jakob Schuy , Medhat Mahmoud , Christopher M. Grochowski , Davut Pehlivan , Fritz J. Sedlazeck , Jill A. Rosenfeld , Pengfei Liu , Weimin Bi , Ronit Marom , Anna Lindstrand","doi":"10.1016/j.gimo.2024.101928","DOIUrl":"10.1016/j.gimo.2024.101928","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 101928"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143562139","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}
引用次数: 0
8: Chromothripsis is a recurrent genomic event associated with high-risk and high grade meningiomas 8：染色体裂是一种复发性基因组事件，与高危和高级别脑膜瘤相关
Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2024.101925
Ha Nguyen
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引用次数: 0
P003: Glucosylsphingosine and its utility for newborn screening for Gaucher disease* P003：葡糖苷及其在新生儿戈谢病筛查中的应用*
Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.102847
Dietrich Matern , Gisele Pino , April Studinski , Dawn Peck , Amy White , Dimitar Gavrilov , Patricia Hall , Devin Oglesbee , Matthew Schultz , Silvia Tortorelli
{"title":"P003: Glucosylsphingosine and its utility for newborn screening for Gaucher disease*","authors":"Dietrich Matern , Gisele Pino , April Studinski , Dawn Peck , Amy White , Dimitar Gavrilov , Patricia Hall , Devin Oglesbee , Matthew Schultz , Silvia Tortorelli","doi":"10.1016/j.gimo.2025.102847","DOIUrl":"10.1016/j.gimo.2025.102847","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 102847"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143636372","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}
引用次数: 0
P038: Impact of homocystinuria on the brain and nervous system 同型半胱氨酸尿对大脑和神经系统的影响
Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.102882
Brittany Parke , Danae Bartke , Zohreh Talebizadeh , Peter Baker II , Kimberly Chapman
{"title":"P038: Impact of homocystinuria on the brain and nervous system","authors":"Brittany Parke , Danae Bartke , Zohreh Talebizadeh , Peter Baker II , Kimberly Chapman","doi":"10.1016/j.gimo.2025.102882","DOIUrl":"10.1016/j.gimo.2025.102882","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 102882"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143636568","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}
引用次数: 0
P088: Use of ketogenic diet in MOGS-CDG: A case study 在MOGS-CDG中使用生酮饮食：一个案例研究
Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.102932
Patrick O'Connell , Sara Donnelly , Alejandro Iglesias , Eva Morava-Kosicz
{"title":"P088: Use of ketogenic diet in MOGS-CDG: A case study","authors":"Patrick O'Connell , Sara Donnelly , Alejandro Iglesias , Eva Morava-Kosicz","doi":"10.1016/j.gimo.2025.102932","DOIUrl":"10.1016/j.gimo.2025.102932","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 102932"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143636595","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}
引用次数: 0
P089: Gaucher disease and a SLC26A6 variant: Unexpected bone fragility P089：戈谢病和SLC26A6变异：出乎意料的骨骼脆弱
Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.102933
Karla Cifuentes-Uribe , Jesus Aguirre-Hernandez , Magdalena Ceron-Rodriguez
{"title":"P089: Gaucher disease and a SLC26A6 variant: Unexpected bone fragility","authors":"Karla Cifuentes-Uribe , Jesus Aguirre-Hernandez , Magdalena Ceron-Rodriguez","doi":"10.1016/j.gimo.2025.102933","DOIUrl":"10.1016/j.gimo.2025.102933","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 102933"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143636596","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}
引用次数: 0
P085: GSD1 subtype 1B: Timeline and progression of clinical symptoms in a patient with juvenile idiopathic arthritis P085: GSD1亚型1B：幼年特发性关节炎患者临床症状的时间和进展
Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.102929
Nidhi A. Gupta , Jennifer Russell , Nina Mickle , Emily Way , Niccole Piguet , Debra Regier
{"title":"P085: GSD1 subtype 1B: Timeline and progression of clinical symptoms in a patient with juvenile idiopathic arthritis","authors":"Nidhi A. Gupta , Jennifer Russell , Nina Mickle , Emily Way , Niccole Piguet , Debra Regier","doi":"10.1016/j.gimo.2025.102929","DOIUrl":"10.1016/j.gimo.2025.102929","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 102929"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143636607","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}
引用次数: 0
P031: A ketogenic diet successfully treats refractory epileptic spasms in a child with AICA-ribosiduria P031：生酮饮食成功治疗顽固性癫痫痉挛患儿aica -核糖体尿
Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.102875
Ameya Walimbe , Charul Gijavanekar , Theresa Wilson , Akshat Katyayan , Sarah Elsea , Lisa Emrick
{"title":"P031: A ketogenic diet successfully treats refractory epileptic spasms in a child with AICA-ribosiduria","authors":"Ameya Walimbe , Charul Gijavanekar , Theresa Wilson , Akshat Katyayan , Sarah Elsea , Lisa Emrick","doi":"10.1016/j.gimo.2025.102875","DOIUrl":"10.1016/j.gimo.2025.102875","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 102875"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143636694","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}
引用次数: 0
P079: Acute mitochondrial dysfunction in proprionic acidemia P079：本体酸血症的急性线粒体功能障碍
Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.102923
Amy Kritzer , Brandon Walther
{"title":"P079: Acute mitochondrial dysfunction in proprionic acidemia","authors":"Amy Kritzer , Brandon Walther","doi":"10.1016/j.gimo.2025.102923","DOIUrl":"10.1016/j.gimo.2025.102923","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 102923"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143636700","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}
引用次数: 0
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