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Cold Spring Harbor Molecular Case Studies
|
June 14, 2020
Early-onset Wilson disease caused by <i>ATP7B</i> exon skipping associated with intronic variant
Daniel C Koboldt, Scott E Hickey, Bimal P Chaudhari, et al.
Diagnostic Cytopathology
|
September 29, 2004
A morphologic and statistical comparative study of small-cell carcinoma and non-Hodgkin's lymphoma in fine-needle aspiration biopsy material from lymph nodes
Luis E De Las Casas, Murat Gokden, Perkins Mukunyadzi, et al.
Cold Spring Harbor Molecular Case Studies
|
December 15, 2019
Novel in-frame <i>FLNB</i> deletion causes Larsen syndrome in a three-generation pedigree
Scott E Hickey, Daniel C Koboldt, Theresa Mihalic Mosher, et al.
Iscience
|
January 8, 2024
Glucocorticoid- and pioglitazone-induced proteinuria reduction in experimental NS both correlate with glomerular ECM modulation
Sagar Bhayana, Julie A Dougherty, Yu Kamigaki, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy
|
January 17, 2015
Broad functional correction of molecular impairments by systemic delivery of scAAVrh74-hSGSH gene delivery in MPS IIIA mice
F Jason Duncan, Bartholomew J Naughton, Kimberly Zaraspe, et al.
Journal of Alzheimer'S Disease : JAD
|
August 1, 2014
Blood genome-wide transcriptional profiles reflect broad molecular impairments and strong blood-brain links in Alzheimer's disease
Bartholomew J Naughton, F Jason Duncan, Darren A Murrey, et al.
Cold Spring Harbor Molecular Case Studies
|
May 9, 2022
De novo missense mutation in GRIA2 in a patient with global developmental delay, autism spectrum disorder, and epileptic encephalopathy
Maeson S Latsko, Daniel C Koboldt, Samuel J Franklin, et al.
Microorganisms
|
December 31, 2025
Fatal Congenital Toxoplasmosis with Progressive Liver Failure and Genomic Characterization of a Novel Isolate from the United States
Katsuaki Kojima, Indu Varier, Rouba Sayegh, et al.
Molecular Therapy. Methods & Clinical Development
|
September 14, 2023
CRISPR-Cas9 homology-independent targeted integration of exons 1-19 restores full-length dystrophin in mice
Anthony A Stephenson, Stefan Nicolau, Tatyana A Vetter, et al.
Scientific Reports
|
August 9, 2020
Author Correction: Baseline and Disease-Induced Transcriptional Profiles in Children with Sickle Cell Disease
Susan Creary, Chandra L Shrestha, Kavitha Kotha, et al.
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Search research articles
Search
Showing results (201-210 of 291) with videos related to
Sort By:
Page
of 30
Cold Spring Harbor Molecular Case Studies
|
June 14, 2020
Early-onset Wilson disease caused by <i>ATP7B</i> exon skipping associated with intronic variant
Daniel C Koboldt, Scott E Hickey, Bimal P Chaudhari, et al.
Diagnostic Cytopathology
|
September 29, 2004
A morphologic and statistical comparative study of small-cell carcinoma and non-Hodgkin's lymphoma in fine-needle aspiration biopsy material from lymph nodes
Luis E De Las Casas, Murat Gokden, Perkins Mukunyadzi, et al.
Cold Spring Harbor Molecular Case Studies
|
December 15, 2019
Novel in-frame <i>FLNB</i> deletion causes Larsen syndrome in a three-generation pedigree
Scott E Hickey, Daniel C Koboldt, Theresa Mihalic Mosher, et al.
Iscience
|
January 8, 2024
Glucocorticoid- and pioglitazone-induced proteinuria reduction in experimental NS both correlate with glomerular ECM modulation
Sagar Bhayana, Julie A Dougherty, Yu Kamigaki, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy
|
January 17, 2015
Broad functional correction of molecular impairments by systemic delivery of scAAVrh74-hSGSH gene delivery in MPS IIIA mice
F Jason Duncan, Bartholomew J Naughton, Kimberly Zaraspe, et al.
Journal of Alzheimer'S Disease : JAD
|
August 1, 2014
Blood genome-wide transcriptional profiles reflect broad molecular impairments and strong blood-brain links in Alzheimer's disease
Bartholomew J Naughton, F Jason Duncan, Darren A Murrey, et al.
Cold Spring Harbor Molecular Case Studies
|
May 9, 2022
De novo missense mutation in GRIA2 in a patient with global developmental delay, autism spectrum disorder, and epileptic encephalopathy
Maeson S Latsko, Daniel C Koboldt, Samuel J Franklin, et al.
Microorganisms
|
December 31, 2025
Fatal Congenital Toxoplasmosis with Progressive Liver Failure and Genomic Characterization of a Novel Isolate from the United States
Katsuaki Kojima, Indu Varier, Rouba Sayegh, et al.
Molecular Therapy. Methods & Clinical Development
|
September 14, 2023
CRISPR-Cas9 homology-independent targeted integration of exons 1-19 restores full-length dystrophin in mice
Anthony A Stephenson, Stefan Nicolau, Tatyana A Vetter, et al.
Scientific Reports
|
August 9, 2020
Author Correction: Baseline and Disease-Induced Transcriptional Profiles in Children with Sickle Cell Disease
Susan Creary, Chandra L Shrestha, Kavitha Kotha, et al.
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of 30