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New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene

机译：从头开始新发生t（2; 8）（p16.1; q23.3）易位的滴虫样综合征表型的新病例，不会破坏TRPS1基因

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Milena Crippa; Ilaria Bestetti; Mario Perotti; Chiara Castronovo; Silvia Tabano; Chiara Picinelli; Guido Grassi; Lidia Larizza; Angela Ida Pincelli; Palma Finelli;
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1. New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene [J] . Milena Crippa, Ilaria Bestetti, Mario Perotti, BMC Medical Genetics . 2014,第1期

机译：从头开始新发生t（2; 8）（p16.1; q23.3）易位的滴虫样综合征表型的新病例，但不会破坏TRPS1基因
2. Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype. [J] . Cacciagli P, Haddad MR, Mignon Ravix C, European journal of human genetics: EJHG . 2010,第12期

机译：患有t（10; 13）从头平衡易位和严重神经系统表型的患者体内ATP8A2基因的破坏。
3. The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene. [J] . Bhalla K, Phillips HA, Crawford J, Journal of human genetics . 2004,第6期

机译：两名具有异常表型（智力低下和癫痫）的患者的从头染色体16易位破坏了A2BP1基因。
4. GA-Novo: De Novo Peptide Sequencing via Tandem Mass Spectrometry Using Genetic Algorithm [C] . Samaneh Azari, Bing Xue, Mengjie Zhang, International conference on applications of evolutionary computation;Evostar conferences . 2019

机译：GA-Novo：使用遗传算法通过串联质谱进行从头进行肽测序
5. Diverse mechanisms of human genetic disease: Splice order determination in the COL1A2 gene. Effects that influence splice site mutations in osteogenesis imperfecta and a translocation disrupting SNRPN gene causes Prader-Willi syndrome. [D] . Kuslich, Christine D. 1999

机译：人类遗传疾病的多种机制：COL1A2基因的剪接顺序确定。影响成骨不全症中剪接位点突变和易位破坏SNRPN基因的效应会导致Prader-Willi综合征。
6. New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene [O] . Milena Crippa, Ilaria Bestetti, Mario Perotti, 2014

机译：从头开始新发生t（2; 8）（p16.1; q23.3）易位的滴虫样综合征表型的新病例不会破坏TRPS1基因
7. Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype. [O] . Villard Laurent, Cacciagli Pierre, Haddad Marie-Reine, 2010

机译：患有t（10; 13）从头平衡易位和严重神经系统表型的患者体内ATP8A2基因的破坏。

New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene

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