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European Journal of Human Genetics : EJHG
|
July 7, 2024
Using a new analytic approach for genotyping and phenotyping chromosome 9p deletion syndrome
Rodrigo Tzovenos Starosta, Nathaniel Jensen, Sophia Couteranis, et al.
HGG Advances
|
January 20, 2022
From karyotypes to precision genomics in 9p deletion and duplication syndromes
Eleanor I Sams, Jeffrey K Ng, Victoria Tate, et al.
American Journal of Respiratory Cell and Molecular Biology
|
May 6, 2026
Lentiviral-mediated gene complementation to rescue pathogenic ABCA3 variants
Ashley L Cooney, Shakayla Lamer, Ping Yang, et al.
Biorxiv : the Preprint Server for Biology
|
September 5, 2025
Lentiviral-mediated gene complementation rescues pathogenic <i>ABCA3</i> variants
Ashley L Cooney, Shakayla Lamer, Ping Yang, et al.
Pediatric Research
|
March 5, 2008
Population and disease-based prevalence of the common mutations associated with surfactant deficiency
Tami H Garmany, Jennifer A Wambach, Hillary B Heins, et al.
Pediatric Research
|
January 16, 2019
Optimizing the AKI definition during first postnatal week using Assessment of Worldwide Acute Kidney Injury Epidemiology in Neonates (AWAKEN) cohort
David Askenazi, Carolyn Abitbol, Louis Boohaker, et al.
The Journal of Pediatrics
|
August 4, 2009
Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes
Aaron Hamvas, Lawrence M Nogee, Daniel J Wegner, et al.
Pediatric Pulmonology
|
April 3, 2008
Recombination as a mechanism for sporadic mutation in the surfactant protein-C gene
Amy D McBee, Daniel J Wegner, Christopher S Carlson, et al.
Nature Methods
|
March 3, 2009
Quantification of rare allelic variants from pooled genomic DNA
Todd E Druley, Francesco L M Vallania, Daniel J Wegner, et al.
Pediatric Research
|
July 4, 2018
Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures
Jennifer A Wambach, Daniel J Wegner, Ping Yang, et al.
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of 11
Search research articles
Search
Showing results (61-70 of 101) with videos related to
Sort By:
Page
of 11
European Journal of Human Genetics : EJHG
|
July 7, 2024
Using a new analytic approach for genotyping and phenotyping chromosome 9p deletion syndrome
Rodrigo Tzovenos Starosta, Nathaniel Jensen, Sophia Couteranis, et al.
HGG Advances
|
January 20, 2022
From karyotypes to precision genomics in 9p deletion and duplication syndromes
Eleanor I Sams, Jeffrey K Ng, Victoria Tate, et al.
American Journal of Respiratory Cell and Molecular Biology
|
May 6, 2026
Lentiviral-mediated gene complementation to rescue pathogenic ABCA3 variants
Ashley L Cooney, Shakayla Lamer, Ping Yang, et al.
Biorxiv : the Preprint Server for Biology
|
September 5, 2025
Lentiviral-mediated gene complementation rescues pathogenic <i>ABCA3</i> variants
Ashley L Cooney, Shakayla Lamer, Ping Yang, et al.
Pediatric Research
|
March 5, 2008
Population and disease-based prevalence of the common mutations associated with surfactant deficiency
Tami H Garmany, Jennifer A Wambach, Hillary B Heins, et al.
Pediatric Research
|
January 16, 2019
Optimizing the AKI definition during first postnatal week using Assessment of Worldwide Acute Kidney Injury Epidemiology in Neonates (AWAKEN) cohort
David Askenazi, Carolyn Abitbol, Louis Boohaker, et al.
The Journal of Pediatrics
|
August 4, 2009
Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes
Aaron Hamvas, Lawrence M Nogee, Daniel J Wegner, et al.
Pediatric Pulmonology
|
April 3, 2008
Recombination as a mechanism for sporadic mutation in the surfactant protein-C gene
Amy D McBee, Daniel J Wegner, Christopher S Carlson, et al.
Nature Methods
|
March 3, 2009
Quantification of rare allelic variants from pooled genomic DNA
Todd E Druley, Francesco L M Vallania, Daniel J Wegner, et al.
Pediatric Research
|
July 4, 2018
Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures
Jennifer A Wambach, Daniel J Wegner, Ping Yang, et al.
Page
of 11