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Molecular Genetics & Genomic Medicine
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April 18, 2019
IgG4-related disease: Association with a rare gene variant expressed in cytotoxic T cells
John H Newman, Aaron Shaver, Jonathan H Sheehan, et al.
Circulation. Genomic and Precision Medicine
|
April 11, 2018
Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults
Na Zhu, Claudia Gonzaga-Jauregui, Carrie L Welch, et al.
American Journal of Respiratory and Critical Care Medicine
|
December 10, 2014
Serum endostatin is a genetically determined predictor of survival in pulmonary arterial hypertension
Rachel Damico, Todd M Kolb, Lidenys Valera, et al.
Genome Medicine
|
July 22, 2018
Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease
Na Zhu, Carrie L Welch, Jiayao Wang, et al.
Medrxiv : the Preprint Server for Health Sciences
|
October 14, 2024
Resolution of <i>SLC6A1</i> variable expressivity in a multi-generational family using deep clinical phenotyping and <i>Drosophila</i> models
Kristy L Jay, Nikhita Gogate, Kim Ezell, et al.
Nature Genetics
|
August 16, 2011
A copy number variation morbidity map of developmental delay
Gregory M Cooper, Bradley P Coe, Santhosh Girirajan, et al.
HGG Advances
|
November 1, 2025
Resolving SLC6A1 variable expressivity with deep clinical phenotyping and Drosophila models
Kristy L Jay, Nikhita Gogate, Paige I Hall, et al.
Pediatrics
|
May 1, 2022
Health Supervision for Children and Adolescents With Down Syndrome
Marilyn J Bull, Tracy Trotter, Stephanie L Santoro, et al.
Science (New York, N.Y.)
|
March 29, 2018
Phenotype risk scores identify patients with unrecognized Mendelian disease patterns
Lisa Bastarache, Jacob J Hughey, Scott Hebbring, et al.
Molecular Genetics & Genomic Medicine
|
December 17, 2025
Phenotypic Variability and Paternal Inheritance of a CHD8 Variant Causing Intellectual Developmental Disorder With Autism and Macrocephaly Confirmed by Epigenetic and Structural Analyses
Yutaka Furuta, Kimberly M Ezell, Rizwan Hamid, et al.
Page
of 20
Search research articles
Search
Showing results (181-190 of 198) with videos related to
Sort By:
Page
of 20
Molecular Genetics & Genomic Medicine
|
April 18, 2019
IgG4-related disease: Association with a rare gene variant expressed in cytotoxic T cells
John H Newman, Aaron Shaver, Jonathan H Sheehan, et al.
Circulation. Genomic and Precision Medicine
|
April 11, 2018
Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults
Na Zhu, Claudia Gonzaga-Jauregui, Carrie L Welch, et al.
American Journal of Respiratory and Critical Care Medicine
|
December 10, 2014
Serum endostatin is a genetically determined predictor of survival in pulmonary arterial hypertension
Rachel Damico, Todd M Kolb, Lidenys Valera, et al.
Genome Medicine
|
July 22, 2018
Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease
Na Zhu, Carrie L Welch, Jiayao Wang, et al.
Medrxiv : the Preprint Server for Health Sciences
|
October 14, 2024
Resolution of <i>SLC6A1</i> variable expressivity in a multi-generational family using deep clinical phenotyping and <i>Drosophila</i> models
Kristy L Jay, Nikhita Gogate, Kim Ezell, et al.
Nature Genetics
|
August 16, 2011
A copy number variation morbidity map of developmental delay
Gregory M Cooper, Bradley P Coe, Santhosh Girirajan, et al.
HGG Advances
|
November 1, 2025
Resolving SLC6A1 variable expressivity with deep clinical phenotyping and Drosophila models
Kristy L Jay, Nikhita Gogate, Paige I Hall, et al.
Pediatrics
|
May 1, 2022
Health Supervision for Children and Adolescents With Down Syndrome
Marilyn J Bull, Tracy Trotter, Stephanie L Santoro, et al.
Science (New York, N.Y.)
|
March 29, 2018
Phenotype risk scores identify patients with unrecognized Mendelian disease patterns
Lisa Bastarache, Jacob J Hughey, Scott Hebbring, et al.
Molecular Genetics & Genomic Medicine
|
December 17, 2025
Phenotypic Variability and Paternal Inheritance of a CHD8 Variant Causing Intellectual Developmental Disorder With Autism and Macrocephaly Confirmed by Epigenetic and Structural Analyses
Yutaka Furuta, Kimberly M Ezell, Rizwan Hamid, et al.
Page
of 20