Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia
about
Human genome sequencing in health and diseaseThe impairment of MAGMAS function in human is responsible for a severe skeletal dysplasiaDisease gene identification strategies for exome sequencingFootprinting analysis of interactions between the largest eukaryotic RNase P/MRP protein Pop1 and RNase P/MRP RNA components.Both endonucleolytic and exonucleolytic cleavage mediate ITS1 removal during human ribosomal RNA processingA Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic FamilyAdvances in Skeletal Dysplasia GeneticsPrehistoric genomes reveal the genetic foundation and cost of horse domesticationContemporary Approaches for Identifying Rare Bone Disease Causing Genes.Performance comparison of exome DNA sequencing technologies.The revolution in human monogenic disease mapping.Mapping and exome sequencing identifies a mutation in the IARS gene as the cause of hereditary perinatal weak calf syndromeExome sequencing in Parkinson's disease.Interactions of a Pop5/Rpp1 heterodimer with the catalytic domain of RNase MRP.Comparison and evaluation of two exome capture kits and sequencing platforms for variant callingMulticentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.Whole-Genome Sequencing of a Canine Family Trio Reveals a FAM83G Variant Associated with Hereditary Footpad HyperkeratosisRare variant detection using family-based sequencing analysisChallenges of bringing next generation sequencing technologies to clinical molecular diagnostic laboratoriesExome sequencing identifies variants in two genes encoding the LIM-proteins NRAP and FHL1 in an Italian patient with BAG3 myofibrillar myopathy.Applications of targeted gene capture and next-generation sequencing technologies in studies of human deafness and other genetic disabilities.Next-generation sequencing for mitochondrial disordersUnlocking Mendelian disease using exome sequencing.Next-generation sequencing technologies and applications for human genetic history and forensics.Osteopetrosis: genetics, treatment and new insights into osteoclast function.Next-generation sequencing: a frameshift in skeletal dysplasia gene discovery.A brilliant breakthrough in OI type V.Exome sequencing greatly expedites the progressive research of Mendelian diseases.Genomic Testing: a Genetic Counselor's Personal Reflection on Three Years of Consenting and Testing.Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia.Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes.Structural organizations of yeast RNase P and RNase MRP holoenzymes as revealed by UV-crosslinking studies of RNA-protein interactions.BRF1 mutations in a family with growth failure, markedly delayed bone age, and central nervous system anomalies.Rpp29 regulates histone H3.3 chromatin assembly through transcriptional mechanisms.
P2860
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P2860
Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia
description
2011 nî lūn-bûn
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2011 թուականի Մարտին հրատարակուած գիտական յօդուած
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2011 թվականի մարտին հրատարակված գիտական հոդված
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2011年の論文
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2011年論文
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2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Whole-exome re-sequencing in a ...... of a novel skeletal dysplasia
@ast
Whole-exome re-sequencing in a ...... of a novel skeletal dysplasia
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Whole-exome re-sequencing in a ...... of a novel skeletal dysplasia
@en-gb
Whole-exome re-sequencing in a ...... of a novel skeletal dysplasia
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type
label
Whole-exome re-sequencing in a ...... of a novel skeletal dysplasia
@ast
Whole-exome re-sequencing in a ...... of a novel skeletal dysplasia
@en
Whole-exome re-sequencing in a ...... of a novel skeletal dysplasia
@en-gb
Whole-exome re-sequencing in a ...... of a novel skeletal dysplasia
@nl
altLabel
Whole-Exome Re-Sequencing in a ...... of a Novel Skeletal Dysplasia
@en
prefLabel
Whole-exome re-sequencing in a ...... of a novel skeletal dysplasia
@ast
Whole-exome re-sequencing in a ...... of a novel skeletal dysplasia
@en
Whole-exome re-sequencing in a ...... of a novel skeletal dysplasia
@en-gb
Whole-exome re-sequencing in a ...... of a novel skeletal dysplasia
@nl
P2093
P2860
P50
P3181
P1433
P1476
Whole-exome re-sequencing in a ...... of a novel skeletal dysplasia
@en
P2093
Andreas Zankl
Evgeny A Glazov
Graeme R Clark
Marina Donskoi
P2860
P304
P3181
P356
10.1371/JOURNAL.PGEN.1002027
P407
P577
2011-03-01T00:00:00Z