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Orphanet Journal of Rare Diseases
|
February 16, 2013
New clinical and molecular insights on Barth syndrome
Lorenzo Ferri, Maria Alice Donati, Silvia Funghini, et al.
Molecular Genetics and Metabolism
|
February 4, 2014
Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patients
Michela Catteruccia, Daniela Verrigni, Diego Martinelli, et al.
Human Mutation
|
January 16, 2007
GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling
Anna Caciotti, Maria Alice Donati, Elena Procopio, et al.
International Journal of Molecular Sciences
|
January 25, 2018
Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature
Catia Cavicchi, Chiara Chilleri, Antonella Fioravanti, et al.
Cellular and Molecular Life Sciences : CMLS
|
February 25, 2022
Defective IGF-1 prohormone N-glycosylation and reduced IGF-1 receptor signaling activation in congenital disorders of glycosylation
Laura Di Patria, Giosuè Annibalini, Amelia Morrone, et al.
Italian Journal of Pediatrics
|
March 6, 2022
Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel
Vincenza Gragnaniello, Federica Deodato, Serena Gasperini, et al.
Journal of Neurology
|
June 20, 2012
Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy
Massimiliano Filosto, Mauro Scarpelli, Paola Tonin, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy
|
May 8, 2019
Targeting a Pre-existing Anti-transgene T Cell Response for Effective Gene Therapy of MPS-I in the Mouse Model of the Disease
Giorgia Squeri, Laura Passerini, Francesca Ferro, et al.
Pediatric Nephrology (Berlin, Germany)
|
September 5, 2014
Short-term survival of hyperammonemic neonates treated with dialysis
Stefano Picca, Carlo Dionisi-Vici, Andrea Bartuli, et al.
BBA Clinical
|
April 7, 2016
Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation
Rodolfo Tonin, Anna Caciotti, Silvia Funghini, et al.
Page
of 9
Search research articles
Search
Showing results (41-50 of 82) with videos related to
Sort By:
Page
of 9
Orphanet Journal of Rare Diseases
|
February 16, 2013
New clinical and molecular insights on Barth syndrome
Lorenzo Ferri, Maria Alice Donati, Silvia Funghini, et al.
Molecular Genetics and Metabolism
|
February 4, 2014
Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patients
Michela Catteruccia, Daniela Verrigni, Diego Martinelli, et al.
Human Mutation
|
January 16, 2007
GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling
Anna Caciotti, Maria Alice Donati, Elena Procopio, et al.
International Journal of Molecular Sciences
|
January 25, 2018
Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature
Catia Cavicchi, Chiara Chilleri, Antonella Fioravanti, et al.
Cellular and Molecular Life Sciences : CMLS
|
February 25, 2022
Defective IGF-1 prohormone N-glycosylation and reduced IGF-1 receptor signaling activation in congenital disorders of glycosylation
Laura Di Patria, Giosuè Annibalini, Amelia Morrone, et al.
Italian Journal of Pediatrics
|
March 6, 2022
Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel
Vincenza Gragnaniello, Federica Deodato, Serena Gasperini, et al.
Journal of Neurology
|
June 20, 2012
Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy
Massimiliano Filosto, Mauro Scarpelli, Paola Tonin, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy
|
May 8, 2019
Targeting a Pre-existing Anti-transgene T Cell Response for Effective Gene Therapy of MPS-I in the Mouse Model of the Disease
Giorgia Squeri, Laura Passerini, Francesca Ferro, et al.
Pediatric Nephrology (Berlin, Germany)
|
September 5, 2014
Short-term survival of hyperammonemic neonates treated with dialysis
Stefano Picca, Carlo Dionisi-Vici, Andrea Bartuli, et al.
BBA Clinical
|
April 7, 2016
Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation
Rodolfo Tonin, Anna Caciotti, Silvia Funghini, et al.
Page
of 9