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American Journal of Medical Genetics. Part A
|
April 27, 2026
Response of an Infant With Presumed Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation
Yutaka Furuta, Kaitlyn N Bloom, Jerry Vockley, et al.
American Journal of Respiratory and Critical Care Medicine
|
February 4, 2020
Development and Progression of Radiologic Abnormalities in Individuals at Risk for Familial Interstitial Lung Disease
Margaret L Salisbury, Justin C Hewlett, Guixiao Ding, et al.
Circulation
|
October 22, 2015
Estrogen Metabolite 16α-Hydroxyestrone Exacerbates Bone Morphogenetic Protein Receptor Type II-Associated Pulmonary Arterial Hypertension Through MicroRNA-29-Mediated Modulation of Cellular Metabolism
Xinping Chen, Megha Talati, Joshua P Fessel, et al.
Bioorganic & Medicinal Chemistry Letters
|
January 29, 2008
Pyrazinoindolone inhibitors of MAPKAP-K2
D R Goldberg, Y Choi, D Cogan, 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.
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.
American Journal of Respiratory and Critical Care Medicine
|
January 9, 2023
The Genetic Landscape of Familial Pulmonary Fibrosis
Qi Liu, Yuan Zhou, Joy D Cogan, 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.
American Journal of Respiratory and Critical Care Medicine
|
January 22, 2015
Rare variants in RTEL1 are associated with familial interstitial pneumonia
Joy D Cogan, Jonathan A Kropski, Min Zhao, et al.
European Journal of Human Genetics : EJHG
|
July 27, 2023
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays
Mythily Ganapathi, Leticia S Matsuoka, Michael March, et al.
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Search research articles
Search
Showing results (91-100 of 103) with videos related to
Sort By:
Page
of 11
American Journal of Medical Genetics. Part A
|
April 27, 2026
Response of an Infant With Presumed Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation
Yutaka Furuta, Kaitlyn N Bloom, Jerry Vockley, et al.
American Journal of Respiratory and Critical Care Medicine
|
February 4, 2020
Development and Progression of Radiologic Abnormalities in Individuals at Risk for Familial Interstitial Lung Disease
Margaret L Salisbury, Justin C Hewlett, Guixiao Ding, et al.
Circulation
|
October 22, 2015
Estrogen Metabolite 16α-Hydroxyestrone Exacerbates Bone Morphogenetic Protein Receptor Type II-Associated Pulmonary Arterial Hypertension Through MicroRNA-29-Mediated Modulation of Cellular Metabolism
Xinping Chen, Megha Talati, Joshua P Fessel, et al.
Bioorganic & Medicinal Chemistry Letters
|
January 29, 2008
Pyrazinoindolone inhibitors of MAPKAP-K2
D R Goldberg, Y Choi, D Cogan, 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.
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.
American Journal of Respiratory and Critical Care Medicine
|
January 9, 2023
The Genetic Landscape of Familial Pulmonary Fibrosis
Qi Liu, Yuan Zhou, Joy D Cogan, 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.
American Journal of Respiratory and Critical Care Medicine
|
January 22, 2015
Rare variants in RTEL1 are associated with familial interstitial pneumonia
Joy D Cogan, Jonathan A Kropski, Min Zhao, et al.
European Journal of Human Genetics : EJHG
|
July 27, 2023
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays
Mythily Ganapathi, Leticia S Matsuoka, Michael March, et al.
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of 11