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| 1 | ADPRHL2基因变异致应激诱发儿童癫痫-共济失调综合征一例显示文摘1例ADPRHL2基因变异致应激诱发儿童癫痫-共济失调综合征女性患儿,2岁时于感染后出现发作性步态异常,病情渐进展合并肢体无力,共济失调,周围神经病和小脑萎缩等,4岁9月龄首次入院,4岁11月龄因再次感染病情急剧进展,死于呼吸衰竭。其姐18月龄行走即出现步态异常,早期神经系统表现与患儿类似,13岁感染后出现癫痫和意识障碍等,治疗无效死亡。患儿及其姐ADPRHL2基因均存在c.309-1G>T纯合剪切变异。 | 徐曼婷 方方 Prokisch Holger 刘志梅 任晓暾 李久伟 冯卫星 曾健生 何乐健 | 2020 | 中华儿科杂志2020，58，6： | 2 |
| 2 | Yttium normalization : a new tool for detection of chromium contamination in soil samples 显示文摘 | PROKISCH J KOVACS B PALENCSAV A J | 2000 | Environmental Geochemistry and Health2000，22，4： | 1 |
| 3 | MitoP2: the mitochondrial proteome database-now including mouse data 显示文摘 | Prokisch H Andreoli C Ahting U | 2006 | Nucleic Acids Res2006，34，： | 1 |
| 4 | A genome-wide associa- tion study identifies three loci associated with mean platelet volume 显示文摘 | Meisinger C Prokisch H Gieger C | 2009 | Am J Hum Genet2009，84，1： | 1 |
| 5 | Yttium normalization: a new tool for detection of chromium contamination in soil samples 显示文摘 | Prokisch J Kovacs B Palencsav A J | 2000 | Environmental Geochemistry and Health2000，22，4： | 1 |
| 6 | Pantothenate kinase?associated neurodegeneration显示文摘 | Hartig MB Prokisch H Meitinger T | 2012 | CUff Drug Targets2012，13，9： | 1 |
| 7 | RNA sequencing role and application in clinical diagnostic显示文摘Although whole-exome sequencing and whole-genome sequencing has tremendously improved our understanding of the genetic etiology of human disorders,about half of the patients still do not receive a molecular diagnosis.The high fraction of variants with uncertain significance and the challenges of interpretation of noncoding variants have urged scientists to implement RNA sequencing(RNA-seq)in the diagnostic approach as a high throughput assay to complement genomic data with functional evidence.RNA-seq data can be used to identify aberrantly spliced genes,detect allele-specific expression,and identify gene expression outliers.Amongst eight studies utilizing RNA-seq,a mean diagnostic uplift of 15%has been reported.Here,we provide an overview of how RNA-seq has been implemented to aid in identifying the causal variants of Mendelian disorders. | Fatemeh Peymani Aiman Farzeen Holger Prokisch | 2022 | Pediatric Investigation2022，6，1： | 1 |
| 8 | Integrative analysis of the mitochondrial proteome in yeast显示文摘 | Prokisch H Scharfe C Camp DG | 2004 | Plos Biol2004，2，6： | 1 |
| 9 | MitoP2, an integrated database on mitochondrial proteins in yeast and man 显示文摘 | Andreoli C Prokisch H Hortnagel K | 2004 | Nuc Acid Res2004，32，90001： | 1 |
| 10 | MitoP2:the mitochondrial proteome database-now including mouse data显示文摘 | Prokisch H Andreoli C Ahting U | 2006 | Nucleic acids research2006，34，1： | 1 |
| 11 | Yttrium Normalisation: a New Tool for Detection of Chromium Contamination in Soil Samples显示文摘 | József Prokisch Béla Kovács Attila J. Palencsár Ildikó Szegvári Zoltán Gy?ri | 2000 | Environmental Geochemistry and Health2000，，4： | 1 |
| 12 | Proteome analysis of mitochondrial outer membrane from Neurospora crassa 显示文摘 | Schmitt S Prokisch H Schlunck T | 2006 | Proteomics2006，6，： | 1 |
| 13 | Integrative analysis of the mitochondrial proteome in yeast显示文摘 | Prokisch H Scharfe C Camp DG | 2004 | PLoS Biol2004，2，6： | 1 |
| 14 | Relationship between sweling and stiffness after eccentric exercise显示文摘 | GARY S C PROKISCH H HORTNAGE L K | 1998 | Med Sci Sports Exere1998，30，4： | 1 |
| 15 | The Nfs1 interacting protein Isd11 has an essential role in Fe/S cluster biogenesis in mitochondria 显示文摘 | Adam A C Bornhovd C Prokisch H | 2006 | EMBO J2006，25，1： | 1 |
| 16 | Relationship between muscle swelling and stiffness after eccentric exercise显示文摘 | Gary SC Prokisch H HortnageL K | 1998 | Med Sci Sports Exere1998，30，4： | 1 |
| 17 | Yttium Normalization:a new tool for detection of chromium contamination in soil samples显示文摘 | Prokisch J Kovacs B Palencsav A J | 2000 | Environmental Geochemistry and Health2000，22，4： | 1 |
| 18 | A study of plant sample preparation and inductively coupled plasma emission spectrometry parameters 显示文摘 | Kovocs B Gyari Z Prokisch J | 1996 | Communications in Soil Science and Plant Analysis1996，27，58： | 1 |
| 19 | Yttium Normalization: A new tool for detection of chromium contamination in soil samples 显示文摘 | Prokisch J Kovacs B Palencsav A J | 2000 | Environmental Geochemistry and Health2000，22，4： | 1 |
| 20 | Studies on soil and plant sample preparation and ICP parameters 显示文摘 | Kovacs B Gyori Z Prokisch J | 1996 | Communications in Soil Science and Plant Analysis1996，27，34： | 1 |
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