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Pediatric Emergency Care
|
September 19, 2007
Status epilepticus secondary to hypertensive encephalopathy as the presenting manifestation of Guillain-Barré syndrome
Nicholas S Abend, Carsten G Bonnemann, Daniel J Licht
Annals of Neurology
|
December 11, 2008
Umbilical cord blood transplantation for juvenile metachromatic leukodystrophy
Tyler Mark Pierson, Carsten G Bonnemann, Richard S Finkel, et al.
Journal of Clinical Neuromuscular Disease
|
March 11, 2010
Muscle-Eye-Brain disease
Anant M Shenoy, Jennifer A Markowitz, Carsten G Bonnemann, et al.
Disease Models & Mechanisms
|
August 5, 2016
Development of a subset of forelimb muscles and their attachment sites requires the ulnar-mammary syndrome gene Tbx3
Mary P Colasanto, Shai Eyal, Payam Mohassel, et al.
Plos Genetics
|
February 7, 2009
Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy
James J Dowling, Andrew P Vreede, Sean E Low, et al.
Genome Research
|
July 15, 2020
A long-read RNA-seq approach to identify novel transcripts of very large genes
Prech Uapinyoying, Jeremy Goecks, Susan M Knoblach, et al.
Arxiv
|
June 21, 2024
Spatial Summation of Localized Pressure for Haptic Sensory Prostheses
Sreela Kodali, Cihualpilli Camino Cruz, Thomas C Bulea, et al.
Human Molecular Genetics
|
January 8, 2010
Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis
Laura K Conlin, Brian D Thiel, Carsten G Bonnemann, et al.
Orphanet Journal of Rare Diseases
|
August 8, 2013
Genotype-phenotype correlations in recessive RYR1-related myopathies
Kimberly Amburgey, Angela Bailey, Jean H Hwang, et al.
Science (New York, N.Y.)
|
October 12, 2019
Genetic regulatory variation in populations informs transcriptome analysis in rare disease
Pejman Mohammadi, Stephane E Castel, Beryl B Cummings, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 20) with videos related to
Sort By:
Page
of 2
Pediatric Emergency Care
|
September 19, 2007
Status epilepticus secondary to hypertensive encephalopathy as the presenting manifestation of Guillain-Barré syndrome
Nicholas S Abend, Carsten G Bonnemann, Daniel J Licht
Annals of Neurology
|
December 11, 2008
Umbilical cord blood transplantation for juvenile metachromatic leukodystrophy
Tyler Mark Pierson, Carsten G Bonnemann, Richard S Finkel, et al.
Journal of Clinical Neuromuscular Disease
|
March 11, 2010
Muscle-Eye-Brain disease
Anant M Shenoy, Jennifer A Markowitz, Carsten G Bonnemann, et al.
Disease Models & Mechanisms
|
August 5, 2016
Development of a subset of forelimb muscles and their attachment sites requires the ulnar-mammary syndrome gene Tbx3
Mary P Colasanto, Shai Eyal, Payam Mohassel, et al.
Plos Genetics
|
February 7, 2009
Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy
James J Dowling, Andrew P Vreede, Sean E Low, et al.
Genome Research
|
July 15, 2020
A long-read RNA-seq approach to identify novel transcripts of very large genes
Prech Uapinyoying, Jeremy Goecks, Susan M Knoblach, et al.
Arxiv
|
June 21, 2024
Spatial Summation of Localized Pressure for Haptic Sensory Prostheses
Sreela Kodali, Cihualpilli Camino Cruz, Thomas C Bulea, et al.
Human Molecular Genetics
|
January 8, 2010
Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis
Laura K Conlin, Brian D Thiel, Carsten G Bonnemann, et al.
Orphanet Journal of Rare Diseases
|
August 8, 2013
Genotype-phenotype correlations in recessive RYR1-related myopathies
Kimberly Amburgey, Angela Bailey, Jean H Hwang, et al.
Science (New York, N.Y.)
|
October 12, 2019
Genetic regulatory variation in populations informs transcriptome analysis in rare disease
Pejman Mohammadi, Stephane E Castel, Beryl B Cummings, et al.
Page
of 2