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American Journal of Human Genetics
|
June 15, 2006
Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype
Claudio Carta, Francesca Pantaleoni, Gianfranco Bocchinfuso, et al.
Human Molecular Genetics
|
December 17, 2013
Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy
Debbie Hicks, Golara Torabi Farsani, Steven Laval, et al.
Human Molecular Genetics
|
November 20, 2010
Enhanced excitation-coupled Ca(2+) entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core disease
Susan Treves, Mirko Vukcevic, Pierre-Yves Jeannet, et al.
Neurology. Genetics
|
March 16, 2026
Genetic Landscape and Diagnostic Outcomes of UK Patients With Congenital Myopathies and Muscular Dystrophies Over a 10-Year Period
Gianpaolo Cicala, Jo Mccauley, Rahul Phadke, et al.
Human Mutation
|
July 6, 2026
Autosomal Dominant Missense <i>DAG1</i> Variant Linked to Mild-Moderate LGMD R16
Edoardo Malfatti, Alexandru Caramizaru, Federica Trentin, et al.
Muscle & Nerve
|
September 5, 2024
Secondary outcomes of scoliosis surgery in disease-modifying treatment-naïve patients with spinal muscular atrophy type 2 and nonambulant type 3
Chiara Brusa, Giovanni Baranello, Deborah Ridout, et al.
Journal of Neuromuscular Diseases
|
November 21, 2022
RYR-1-Related Diseases International Research Workshop: From Mechanisms to Treatments Pittsburgh, PA, U.S.A., 21-22 July 2022
Thomas N O'Connor, Luuk R van den Bersselaar, Yu Seby Chen, et al.
The American Journal of Cardiology
|
August 19, 2007
Prevalence and clinical significance of cardiovascular abnormalities in patients with the LEOPARD syndrome
Giuseppe Limongelli, Giuseppe Pacileo, Bruno Marino, et al.
European Journal of Human Genetics : EJHG
|
June 21, 2012
A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot
Valentina Guida, Rosangela Ferese, Marcella Rocchetti, et al.
Journal of Neuromuscular Diseases
|
August 16, 2024
Individuals and Families Affected by RYR1-Related Diseases: The Patient/Caregiver Perspective
Sanne A J H van de Camp, Lizan Stinissen, Andrew Huseth, et al.
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of 14
Search research articles
Search
Showing results (71-80 of 137) with videos related to
Sort By:
Page
of 14
American Journal of Human Genetics
|
June 15, 2006
Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype
Claudio Carta, Francesca Pantaleoni, Gianfranco Bocchinfuso, et al.
Human Molecular Genetics
|
December 17, 2013
Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy
Debbie Hicks, Golara Torabi Farsani, Steven Laval, et al.
Human Molecular Genetics
|
November 20, 2010
Enhanced excitation-coupled Ca(2+) entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core disease
Susan Treves, Mirko Vukcevic, Pierre-Yves Jeannet, et al.
Neurology. Genetics
|
March 16, 2026
Genetic Landscape and Diagnostic Outcomes of UK Patients With Congenital Myopathies and Muscular Dystrophies Over a 10-Year Period
Gianpaolo Cicala, Jo Mccauley, Rahul Phadke, et al.
Human Mutation
|
July 6, 2026
Autosomal Dominant Missense <i>DAG1</i> Variant Linked to Mild-Moderate LGMD R16
Edoardo Malfatti, Alexandru Caramizaru, Federica Trentin, et al.
Muscle & Nerve
|
September 5, 2024
Secondary outcomes of scoliosis surgery in disease-modifying treatment-naïve patients with spinal muscular atrophy type 2 and nonambulant type 3
Chiara Brusa, Giovanni Baranello, Deborah Ridout, et al.
Journal of Neuromuscular Diseases
|
November 21, 2022
RYR-1-Related Diseases International Research Workshop: From Mechanisms to Treatments Pittsburgh, PA, U.S.A., 21-22 July 2022
Thomas N O'Connor, Luuk R van den Bersselaar, Yu Seby Chen, et al.
The American Journal of Cardiology
|
August 19, 2007
Prevalence and clinical significance of cardiovascular abnormalities in patients with the LEOPARD syndrome
Giuseppe Limongelli, Giuseppe Pacileo, Bruno Marino, et al.
European Journal of Human Genetics : EJHG
|
June 21, 2012
A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot
Valentina Guida, Rosangela Ferese, Marcella Rocchetti, et al.
Journal of Neuromuscular Diseases
|
August 16, 2024
Individuals and Families Affected by RYR1-Related Diseases: The Patient/Caregiver Perspective
Sanne A J H van de Camp, Lizan Stinissen, Andrew Huseth, et al.
Page
of 14