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Movement Disorders : Official Journal of the Movement Disorder Society
|
April 21, 2024
Cortical Myoclonus and Complex Paroxysmal Dyskinesias in a Patient with NAA15 Variant
Elena Freri, Laura Canafoglia, Claudia Ciaccio, et al.
Circulation Research
|
January 15, 2015
Endocardial fibroelastosis is caused by aberrant endothelial to mesenchymal transition
Xingbo Xu, Ingeborg Friehs, Tachi Zhong Hu, et al.
Movement Disorders Clinical Practice
|
October 24, 2024
Causative Role of the SLC6A1 p.Asp451Gly Variant in a Patient with Combined Dystonia and Neurodevelopmental Disorder
Luigi M Romito, Fabiana Colucci, Valentina Leta, et al.
The Journal of Clinical Endocrinology and Metabolism
|
December 22, 2022
Novel Insulin-Like Growth Factor 1 Gene Mutation: Broadening of the Phenotype and Implications for Insulin Resistance
Claudio Giacomozzi, Ayelen Martin, María Celia Fernández, et al.
Journal of Cardiovascular Medicine (Hagerstown, Md.)
|
November 28, 2017
Contemporary genetic testing in inherited cardiac disease: tools, ethical issues, and clinical applications
Francesca Girolami, Giulia Frisso, Matteo Benelli, et al.
Journal of Human Genetics
|
March 31, 2021
Spinal cord involvement and paroxysmal events in "Infantile Onset Transient Hypomyelination" due to TMEM63A mutation
Davide Tonduti, Eleonora Mura, Silvia Masnada, et al.
Prenatal Diagnosis
|
July 5, 2022
Prenatal ultrasound findings associated with PIGW variants: One more piece in the FRYNS syndrome puzzle? PIGW-related prenatal findings
Luisa Ronzoni, Simona Boito, Camilla Meossi, et al.
JAMA Cardiology
|
August 10, 2017
Intraoperative Diagnosis of Anderson-Fabry Disease in Patients With Obstructive Hypertrophic Cardiomyopathy Undergoing Surgical Myectomy
Franco Cecchi, Maria Iascone, Niccolò Maurizi, et al.
Genes
|
March 25, 2022
Mucopolysaccharidosis-Plus Syndrome, a Rapidly Progressive Disease: Favorable Impact of a Very Prolonged Steroid Treatment on the Clinical Course in a Child
Martha Caterina Faraguna, Francesca Musto, Viola Crescitelli, et al.
Birth Defects Research
|
June 25, 2022
An example of parenchymal renal sparing in the context of complex malformations due to a novel mutation in the PBX1 gene
Federica Ruscitti, Maria Cerminara, Maria Iascone, et al.
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Search research articles
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Showing results (71-80 of 178) with videos related to
Sort By:
Page
of 18
Movement Disorders : Official Journal of the Movement Disorder Society
|
April 21, 2024
Cortical Myoclonus and Complex Paroxysmal Dyskinesias in a Patient with NAA15 Variant
Elena Freri, Laura Canafoglia, Claudia Ciaccio, et al.
Circulation Research
|
January 15, 2015
Endocardial fibroelastosis is caused by aberrant endothelial to mesenchymal transition
Xingbo Xu, Ingeborg Friehs, Tachi Zhong Hu, et al.
Movement Disorders Clinical Practice
|
October 24, 2024
Causative Role of the SLC6A1 p.Asp451Gly Variant in a Patient with Combined Dystonia and Neurodevelopmental Disorder
Luigi M Romito, Fabiana Colucci, Valentina Leta, et al.
The Journal of Clinical Endocrinology and Metabolism
|
December 22, 2022
Novel Insulin-Like Growth Factor 1 Gene Mutation: Broadening of the Phenotype and Implications for Insulin Resistance
Claudio Giacomozzi, Ayelen Martin, María Celia Fernández, et al.
Journal of Cardiovascular Medicine (Hagerstown, Md.)
|
November 28, 2017
Contemporary genetic testing in inherited cardiac disease: tools, ethical issues, and clinical applications
Francesca Girolami, Giulia Frisso, Matteo Benelli, et al.
Journal of Human Genetics
|
March 31, 2021
Spinal cord involvement and paroxysmal events in "Infantile Onset Transient Hypomyelination" due to TMEM63A mutation
Davide Tonduti, Eleonora Mura, Silvia Masnada, et al.
Prenatal Diagnosis
|
July 5, 2022
Prenatal ultrasound findings associated with PIGW variants: One more piece in the FRYNS syndrome puzzle? PIGW-related prenatal findings
Luisa Ronzoni, Simona Boito, Camilla Meossi, et al.
JAMA Cardiology
|
August 10, 2017
Intraoperative Diagnosis of Anderson-Fabry Disease in Patients With Obstructive Hypertrophic Cardiomyopathy Undergoing Surgical Myectomy
Franco Cecchi, Maria Iascone, Niccolò Maurizi, et al.
Genes
|
March 25, 2022
Mucopolysaccharidosis-Plus Syndrome, a Rapidly Progressive Disease: Favorable Impact of a Very Prolonged Steroid Treatment on the Clinical Course in a Child
Martha Caterina Faraguna, Francesca Musto, Viola Crescitelli, et al.
Birth Defects Research
|
June 25, 2022
An example of parenchymal renal sparing in the context of complex malformations due to a novel mutation in the PBX1 gene
Federica Ruscitti, Maria Cerminara, Maria Iascone, et al.
Page
of 18