Search results: Sage Journals

Restricted accessResearch articleFirst published December, 2002

Clinical Validity of the MoSeSS RARE-Sequence at CSF Flow Disturbances

M. Orszagh, M. Büchert, D. M. Schulte [...]

The Neuroradiology Journal

Restricted accessResearch articleFirst published 2021

Whole-genome sequencing as a first-tier diagnostic framework for rare genetic diseases

Haseeb Nisar, Bilal Wajid, Samiah Shahid [...]

Experimental Biology and Medicine

Restricted accessReview articleFirst published July, 2026

Diagnostic challenges in peritoneal dialysis-associated peritonitis with atypical and rare pathogens: A new era of metagenomic next-generation sequencing precision diagnosis

Xiao Dong, Chao Xie, Zhe Zhang [...]

Peritoneal Dialysis International: Journal of the International Society for Peritoneal Dialysis

Open accessCase reportFirst published June, 2021

Next-Generation Sequencing in the Diagnosis of Rare Pediatric Sinonasal Tumors

Atif A. Ahmed, Divya Vundamati, Midhat Farooqi [...]

Ear,Nose & Throat Journal

Restricted accessResearch articleFirst published

Space Efficient Computation of Rare Maximal Exact Matches between Multiple Sequences

Enno Ohlebusch, Stefan Kurtz

Journal of Computational Biology

Restricted accessResearch articleFirst published April, 2017

Beta-Binomial Model for the Detection of Rare Mutations in Pooled Next-Generation Sequencing Experiments

Audrone Jakaitiene, Mariano Avino, Mario Rosario Guarracino

Journal of Computational Biology

Restricted accessResearch articleFirst published March, 2018

Noninvasive Prenatal Testing of Rare Autosomal Aneuploidies by Semiconductor Sequencing

Mei-Juan Xie, Zhi-Kun Liang, Dan He [...]

DNA and Cell Biology

Restricted accessResearch articleFirst published May, 2001

Detection and Direct Genomic Sequencing of Multiple Rare Unknown Flanking DNA in Highly Complex Samples

Manfred Schmidt, Gesa Hoffmann, Manuela Wissler [...]

Human Gene Therapy

Open accessResearch articleFirst published October, 2022

Microfluidic Enrichment and Computational Analysis of Rare Sequences from Mixed Genomic Samples for Metagenomic Mining

Naiwen Cui, Guihem Faure, Ankita Singh [...]

The CRISPR Journal

Free accessCase reportFirst published July, 2017

Characterization of a Rare Nonpathogenic Sequence Variant (c.1905C>T) of the Dihydropyrimidine Dehydrogenase Gene ( DPYD )

Raffaele Palmirotta, Domenica Lovero, Erica Silvestris [...]

The International Journal of Biological Markers

Restricted accessResearch articleFirst published December, 2002

Clinical Validity of the MoSeSS RARE-Sequence at CSF Flow Disturbances

M. Orszagh, M. Büchert, D. M. Schulte [...]

The Neuroradiology Journal

Restricted accessResearch articleFirst published 2021

Whole-genome sequencing as a first-tier diagnostic framework for rare genetic diseases

Haseeb Nisar, Bilal Wajid, Samiah Shahid [...]

Experimental Biology and Medicine

Restricted accessReview articleFirst published July, 2026

Diagnostic challenges in peritoneal dialysis-associated peritonitis with atypical and rare pathogens: A new era of metagenomic next-generation sequencing precision diagnosis

Xiao Dong, Chao Xie, Zhe Zhang [...]

Peritoneal Dialysis International: Journal of the International Society for Peritoneal Dialysis

Open accessCase reportFirst published June, 2021

Next-Generation Sequencing in the Diagnosis of Rare Pediatric Sinonasal Tumors

Atif A. Ahmed, Divya Vundamati, Midhat Farooqi [...]

Ear,Nose & Throat Journal

Restricted accessResearch articleFirst published

Space Efficient Computation of Rare Maximal Exact Matches between Multiple Sequences

Enno Ohlebusch, Stefan Kurtz

Journal of Computational Biology

Restricted accessResearch articleFirst published April, 2017

Beta-Binomial Model for the Detection of Rare Mutations in Pooled Next-Generation Sequencing Experiments

Audrone Jakaitiene, Mariano Avino, Mario Rosario Guarracino

Journal of Computational Biology

Restricted accessResearch articleFirst published March, 2018

Noninvasive Prenatal Testing of Rare Autosomal Aneuploidies by Semiconductor Sequencing

Mei-Juan Xie, Zhi-Kun Liang, Dan He [...]

DNA and Cell Biology

Restricted accessResearch articleFirst published May, 2001

Detection and Direct Genomic Sequencing of Multiple Rare Unknown Flanking DNA in Highly Complex Samples

Manfred Schmidt, Gesa Hoffmann, Manuela Wissler [...]

Human Gene Therapy

Open accessResearch articleFirst published October, 2022

Microfluidic Enrichment and Computational Analysis of Rare Sequences from Mixed Genomic Samples for Metagenomic Mining

Naiwen Cui, Guihem Faure, Ankita Singh [...]

The CRISPR Journal

Free accessCase reportFirst published July, 2017

Characterization of a Rare Nonpathogenic Sequence Variant (c.1905C>T) of the Dihydropyrimidine Dehydrogenase Gene ( DPYD )

Raffaele Palmirotta, Domenica Lovero, Erica Silvestris [...]

The International Journal of Biological Markers