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Genome Medicine
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April 14, 2025
Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies
Francesca Mattioli, Rún Friðriksdóttir, Anne Hebert, et al.
NPJ Genomic Medicine
|
February 17, 2018
The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants
Josh E Petrikin, Julie A Cakici, Michelle M Clark, et al.
The Journal of Clinical Investigation
|
November 29, 2012
Circulating αKlotho influences phosphate handling by controlling FGF23 production
Rosamund C Smith, Linda M O'Bryan, Emily G Farrow, et al.
Genome Medicine
|
October 1, 2015
A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases
Neil A Miller, Emily G Farrow, Margaret Gibson, et al.
The Lancet. Respiratory Medicine
|
May 5, 2015
Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings
Laurel K Willig, Josh E Petrikin, Laurie D Smith, et al.
Human Mutation
|
October 17, 2025
One-Sided Matching Portal (OSMP): A Tool to Facilitate Rare Disease Patient Matchmaking
Matthew Osmond, E Magda Price, Orion J Buske, et al.
The Journal of Experimental Medicine
|
May 23, 2024
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans
Victoria E Rael, Julian A Yano, John P Huizar, et al.
Research Square
|
February 20, 2025
Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia Pigmenti
Monica H Wojcik, Robin D Clark, Abdallah F Elias, et al.
Plos Genetics
|
September 14, 2018
Correction: Whole exome sequencing reveals HSPA1L as a genetic risk factor for spontaneous preterm birth
Johanna M Huusko, Minna K Karjalainen, Britney E Graham, et al.
Plos Genetics
|
July 13, 2018
Whole exome sequencing reveals HSPA1L as a genetic risk factor for spontaneous preterm birth
Johanna M Huusko, Minna K Karjalainen, Britney E Graham, et al.
Page
of 7
Search research articles
Search
Showing results (51-60 of 70) with videos related to
Sort By:
Page
of 7
Genome Medicine
|
April 14, 2025
Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies
Francesca Mattioli, Rún Friðriksdóttir, Anne Hebert, et al.
NPJ Genomic Medicine
|
February 17, 2018
The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants
Josh E Petrikin, Julie A Cakici, Michelle M Clark, et al.
The Journal of Clinical Investigation
|
November 29, 2012
Circulating αKlotho influences phosphate handling by controlling FGF23 production
Rosamund C Smith, Linda M O'Bryan, Emily G Farrow, et al.
Genome Medicine
|
October 1, 2015
A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases
Neil A Miller, Emily G Farrow, Margaret Gibson, et al.
The Lancet. Respiratory Medicine
|
May 5, 2015
Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings
Laurel K Willig, Josh E Petrikin, Laurie D Smith, et al.
Human Mutation
|
October 17, 2025
One-Sided Matching Portal (OSMP): A Tool to Facilitate Rare Disease Patient Matchmaking
Matthew Osmond, E Magda Price, Orion J Buske, et al.
The Journal of Experimental Medicine
|
May 23, 2024
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans
Victoria E Rael, Julian A Yano, John P Huizar, et al.
Research Square
|
February 20, 2025
Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia Pigmenti
Monica H Wojcik, Robin D Clark, Abdallah F Elias, et al.
Plos Genetics
|
September 14, 2018
Correction: Whole exome sequencing reveals HSPA1L as a genetic risk factor for spontaneous preterm birth
Johanna M Huusko, Minna K Karjalainen, Britney E Graham, et al.
Plos Genetics
|
July 13, 2018
Whole exome sequencing reveals HSPA1L as a genetic risk factor for spontaneous preterm birth
Johanna M Huusko, Minna K Karjalainen, Britney E Graham, et al.
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of 7