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Molecular Genetics and Metabolism
|
June 24, 2023
Sengers syndrome and AGK-related disorders - Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases
Chen-Han Wilfred Wu, Martin Caha, Leslie Smoot, et al.
Biochimica Et Biophysica Acta
|
October 20, 2009
A suggested role for mitochondria in Noonan syndrome
Icksoo Lee, Alena Pecinova, Petr Pecina, et al.
Journal of Neuro-Ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society
|
February 24, 2026
FOXC1-Related Morning Glory-Like Papillopathy and Cerebral Vasculopathy
Annie Y Yao, Jose Efren Gonzalez Monroy, Camilo Jaimes, et al.
Archives of Disease in Childhood
|
February 19, 2014
Cardiovascular disease in Noonan syndrome
Terence W Prendiville, Kimberlee Gauvreau, Erica Tworog-Dube, et al.
American Journal of Medical Genetics. Part A
|
September 17, 2004
Description of a case of distal 2p trisomy by array-based comparative genomic hybridization: a high resolution genome-wide investigation for chromosomal aneuploidy in a single assay
Amy E Roberts, Mira B Irons, Virginia E Kimonis, et al.
Prenatal Diagnosis
|
September 4, 2025
Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta-Analysis
Hiba J Mustafa, Parisa Najjariasl, Faezeh Aghajani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 1, 2011
Chromosomal microarray testing influences medical management
Michael E Coulter, David T Miller, David J Harris, et al.
American Journal of Medical Genetics. Part A
|
February 27, 2010
Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome
Elizabeth I Pierpont, Mary Ella Pierpont, Nancy J Mendelsohn, et al.
The Journal of Pediatrics
|
April 2, 2017
Congenital Chylothorax as the Initial Presentation of PTPN11-Associated Noonan Syndrome
Darius Ebrahimi-Fakhari, Eli Freiman, Monica H Wojcik, et al.
Journal of Speech, Language, and Hearing Research : JSLHR
|
June 15, 2010
The language phenotype of children and adolescents with Noonan syndrome
Elizabeth I Pierpont, Susan Ellis Weismer, Amy E Roberts, et al.
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Search research articles
Search
Showing results (21-30 of 96) with videos related to
Sort By:
Page
of 10
Molecular Genetics and Metabolism
|
June 24, 2023
Sengers syndrome and AGK-related disorders - Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases
Chen-Han Wilfred Wu, Martin Caha, Leslie Smoot, et al.
Biochimica Et Biophysica Acta
|
October 20, 2009
A suggested role for mitochondria in Noonan syndrome
Icksoo Lee, Alena Pecinova, Petr Pecina, et al.
Journal of Neuro-Ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society
|
February 24, 2026
FOXC1-Related Morning Glory-Like Papillopathy and Cerebral Vasculopathy
Annie Y Yao, Jose Efren Gonzalez Monroy, Camilo Jaimes, et al.
Archives of Disease in Childhood
|
February 19, 2014
Cardiovascular disease in Noonan syndrome
Terence W Prendiville, Kimberlee Gauvreau, Erica Tworog-Dube, et al.
American Journal of Medical Genetics. Part A
|
September 17, 2004
Description of a case of distal 2p trisomy by array-based comparative genomic hybridization: a high resolution genome-wide investigation for chromosomal aneuploidy in a single assay
Amy E Roberts, Mira B Irons, Virginia E Kimonis, et al.
Prenatal Diagnosis
|
September 4, 2025
Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta-Analysis
Hiba J Mustafa, Parisa Najjariasl, Faezeh Aghajani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 1, 2011
Chromosomal microarray testing influences medical management
Michael E Coulter, David T Miller, David J Harris, et al.
American Journal of Medical Genetics. Part A
|
February 27, 2010
Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome
Elizabeth I Pierpont, Mary Ella Pierpont, Nancy J Mendelsohn, et al.
The Journal of Pediatrics
|
April 2, 2017
Congenital Chylothorax as the Initial Presentation of PTPN11-Associated Noonan Syndrome
Darius Ebrahimi-Fakhari, Eli Freiman, Monica H Wojcik, et al.
Journal of Speech, Language, and Hearing Research : JSLHR
|
June 15, 2010
The language phenotype of children and adolescents with Noonan syndrome
Elizabeth I Pierpont, Susan Ellis Weismer, Amy E Roberts, et al.
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of 10