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A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders

机译：一种新的方法，使用长读测序和DDPCR调查Gonadal Mosaicism和估计两种具有发育障碍的家庭的复发风险

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Maria Wilbe; Sanna Gudmundsson; Josefin Johansson; Adam Ameur; Eva-Lena Stattin; Göran Annerén; Helena Malmgren; Carina Frykholm; Marie-Louise Bondeson;
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1. A novel approach using long‐read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders [J] . Wilbe Maria, Gudmundsson Sanna, Johansson Josefin, Prenatal Diagnosis . 2017,第11期

机译：一种使用长读测序和DDPCR的新方法，以调查Gonadal Mosicism，并在两个具有发育障碍的两个家庭中估算复发风险
2. Parental somato-gonadal mosaicism is a source of recurrence risk for de novo disorders: A meta-analysis [J] . Mossayebi Matthew H., Gao Zimeng, Al-Kouatly Huda B., Autonomic neuroscience: basic & clinical . 2019,第期

机译：父母躯体躯体躯体镶嵌是De Novo疾病的复发风险来源：Meta分析
3. Inferring parental gonadal mosaicism in LMNA LMNA ‐associated muscular dystrophy by ultra‐deep next generation sequencing: A sensitive approach providing valuable information for genetic counseling [J] . Perez Maturo Josefina, Vega Patricia, Medina Nancy, American journal of medical genetics, Part A . 2019,第6期

机译：通过超深的下一代测序推断在LMNA LMNA中的父母性腺性腺染色体中的肌营养不良，为遗传咨询提供有价值信息的敏感方法
4. Early Detection of risk of autism spectrum disorder based on recurrence quantification analysis of electroencephalographic signals [C] . Pistorius T., Aldrich C., Auret L., International IEEE/EMBS Conference on Neural Engineering . 2013

机译：基于脑电图信号复发量化分析的自闭症谱系障碍风险的早期发现
5. Sport and Recreational Activity Participation and Injury Risk in Elementary School Children with Probable Developmental Coordination Disorder or Attention Deficit Hyperactivity Disorder. [D] . Tan, Benjamin Lai-Yin. 2014

机译：有可能的发育协调障碍或注意力缺陷多动障碍的小学生的运动和娱乐活动参与和伤害风险。
6. A novel approach using long‐read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders [O] . Maria Wilbe, Sanna Gudmundsson, Josefin Johansson, -1

机译：一种使用长序列测序和ddPCR研究性腺镶嵌症并评估两个发育障碍家庭复发风险的新方法
7. 1071: Parental somato-gonadal mosaicism is a source of recurrence risk for de novo disorders: A meta-analysis [O] . Matthew H. Mossayebi, Zimeng Gao, Huda B. Al-Kouatly, 2020

机译：1071：父母躯体索奥大陆马赛族是德诺疾病的复发风险来源：荟萃分析

A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders

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