"variant prioritisation" trang 13 - tải miễn phí từ tailieuXANH
Finding a suitable library size to call variants in RNA‑Seq

Finding a suitable library size to call variants in RNA‑Seq
19    57    0
Reconstructing DNA copy number by joint segmentation of multiple sequences

Reconstructing DNA copy number by joint segmentation of multiple sequences
15    63    0
Human-specific protein isoforms produced by novel splice sites in the human genome after the human-chimpanzee divergence

Human-specific protein isoforms produced by novel splice sites in the human genome after the human-chimpanzee divergence
8    71    0
Reverse wedge effect following intramedullary nailing of a basicervical trochanteric fracture variant combined with a mechanically compromised greater trochanter

Reverse wedge effect following intramedullary nailing of a basicervical trochanteric fracture variant combined with a mechanically compromised greater trochanter
9    65    0
Spondylocarpotarsal synostosis syndrome due to a novel loss of function FLNB variant: A case report

Spondylocarpotarsal synostosis syndrome due to a novel loss of function FLNB variant: A case report
6    37    0
Rare variant of HSPG2 is not involved in the development of adolescent idiopathic scoliosis: Evidence from a large-scale replication study

Rare variant of HSPG2 is not involved in the development of adolescent idiopathic scoliosis: Evidence from a large-scale replication study
6    46    0
Primary intradural extramedullary spinal mesenchymal chondrosarcoma: Case report and literature review

Primary intradural extramedullary spinal mesenchymal chondrosarcoma: Case report and literature review
6    63    1
Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant

Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant
10    37    1
Successful treatment of periprosthetic joint infection caused by Granulicatella paraadiacens with prosthesis retention: A case report

Successful treatment of periprosthetic joint infection caused by Granulicatella paraadiacens with prosthesis retention: A case report
5    38    1
Modified posteromedial approach for treatment of posterior pilon variant fracture

Modified posteromedial approach for treatment of posterior pilon variant fracture
8    46    2
Comprehensive analysis of germline mutations in northern Brazil: A panel of 16 genes for hereditary cancer-predisposing syndrome investigation

Comprehensive analysis of germline mutations in northern Brazil: A panel of 16 genes for hereditary cancer-predisposing syndrome investigation
8    37    1
Challenging the diagnosis of Cystic Fibrosis in a patient carrying the 186-8T/C allelic variant in the CF Transmembrane Conductance Regulator gene

Challenging the diagnosis of Cystic Fibrosis in a patient carrying the 186-8T/C allelic variant in the CF Transmembrane Conductance Regulator gene
7    36    1
The significance of the F variant of alpha-1- antitrypsin and unique case report of a PiFF homozygote

The significance of the F variant of alpha-1- antitrypsin and unique case report of a PiFF homozygote
7    48    1
Determinants of outcome of solitary fibrous tumors of the pleura: An observational cohort study

Determinants of outcome of solitary fibrous tumors of the pleura: An observational cohort study
8    34    1
A case report of an unusual non-mucinous papillary variant of CPAM type 1 with KRAS mutations

A case report of an unusual non-mucinous papillary variant of CPAM type 1 with KRAS mutations
4    43    1
Cough in hypereosinophilic syndrome: Case report and literature review

Cough in hypereosinophilic syndrome: Case report and literature review
9    61    1
Homozygous truncating NEK10 mutation, associated with primary ciliary dyskinesia: A case report

Homozygous truncating NEK10 mutation, associated with primary ciliary dyskinesia: A case report
5    57    1
Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: A case report

Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: A case report
6    41    1
A case–control study of innate immunity pathway gene polymorphisms in Puerto Ricans reveals association of toll-like receptor 2 +596 variant with asthma

A case–control study of innate immunity pathway gene polymorphisms in Puerto Ricans reveals association of toll-like receptor 2 +596 variant with asthma
11    42    1
Association of a rare NOTCH4 coding variant with systemic sclerosis: A family-based whole exome sequencing study

Association of a rare NOTCH4 coding variant with systemic sclerosis: A family-based whole exome sequencing study
6    40    1
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