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The Journal of Pediatrics
|
June 20, 2020
The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children
Amanda S Freed, Sarah V Clowes Candadai, Megan C Sikes, et al.
NPJ Genomic Medicine
|
May 9, 2025
Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing
Alexandra C Keefe, Dana M Jensen, Meranda M Pham, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 18, 2018
Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants
Jennifer N Dines, Katie Golden-Grant, Amy LaCroix, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 25, 2018
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants
Jennifer N Dines, Katie Golden-Grant, Amy LaCroix, et al.
American Journal of Medical Genetics. Part A
|
June 6, 2020
Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy
Tara L Wenger, Randall A Bly, Natalie Wu, et al.
American Journal of Human Genetics
|
July 3, 2021
Targeted long-read sequencing identifies missing disease-causing variation
Danny E Miller, Arvis Sulovari, Tianyun Wang, et al.
American Journal of Medical Genetics. Part A
|
February 14, 2018
Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome
Yuri A Zarate, Constance L Smith-Hicks, Carol Greene, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 4, 2021
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome
Marjolein J A Weerts, Kristina Lanko, Francisco J Guzmán-Vega, et al.
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Search research articles
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Showing results (71-80 of 78) with videos related to
Sort By:
Page
of 8
You have reached the last page of results.
This site can display upto 78 results.
The Journal of Pediatrics
|
June 20, 2020
The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children
Amanda S Freed, Sarah V Clowes Candadai, Megan C Sikes, et al.
NPJ Genomic Medicine
|
May 9, 2025
Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing
Alexandra C Keefe, Dana M Jensen, Meranda M Pham, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 18, 2018
Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants
Jennifer N Dines, Katie Golden-Grant, Amy LaCroix, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 25, 2018
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants
Jennifer N Dines, Katie Golden-Grant, Amy LaCroix, et al.
American Journal of Medical Genetics. Part A
|
June 6, 2020
Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy
Tara L Wenger, Randall A Bly, Natalie Wu, et al.
American Journal of Human Genetics
|
July 3, 2021
Targeted long-read sequencing identifies missing disease-causing variation
Danny E Miller, Arvis Sulovari, Tianyun Wang, et al.
American Journal of Medical Genetics. Part A
|
February 14, 2018
Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome
Yuri A Zarate, Constance L Smith-Hicks, Carol Greene, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 4, 2021
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome
Marjolein J A Weerts, Kristina Lanko, Francisco J Guzmán-Vega, et al.
Page
of 8