Search research articles
Contact Us
Filters
Showing results (11-20 of 122) with videos related to
Page
of 13
Sort By:
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
April 15, 2008
LAMA2 stop-codon mutation: merosin-deficient congenital muscular dystrophy with occipital polymicrogyria, epilepsy and psychomotor regression
Piernanda Vigliano, Patrizia Dassi, Claudia Di Blasi, et al.
Metabolomics : Official Journal of the Metabolomic Society
|
June 11, 2019
NMR metabolomics identifies over 60 biomarkers associated with Type II Diabetes impairment in db/db mice
Marina Mora-Ortiz, Patricia Nuñez Ramos, Alain Oregioni, et al.
Neuromuscular Disorders : NMD
|
November 8, 2008
Danon disease: a novel LAMP2 mutation affecting the pre-mRNA splicing and causing aberrant transcripts and partial protein expression
Claudia Di Blasi, Laura Jarre, Flavia Blasevich, et al.
Genes & Diseases
|
February 11, 2021
A novel <i>PNPLA2</i> mutation causing total loss of RNA and protein expression in two NLSDM siblings with early onset but slowly progressive severe myopathy
Daniela Tavian, Lorenzo Maggi, Marina Mora, et al.
Pediatric Neurology
|
September 4, 2007
Severe congenital muscular dystrophy in a LAMA2-mutated case
Claudia Di Blasi, Nens van Alfen, Francesca Colleoni, et al.
Revista Espanola De Salud Publica
|
December 16, 2020
[Impact of the COVID-19 pandemic on Neonatal Screening for Congenital Hypothyroidism.]
Marina Mora Sitja, María Sanz Fernández, Lucía Carrascón González-Pinto, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|
June 23, 2011
Pilot trial of simvastatin in the treatment of sporadic inclusion-body myositis
Cristina Sancricca, Marina Mora, Enzo Ricci, et al.
Revista Espanola De Salud Publica
|
December 29, 2020
[Analysis of the degree of clinical suspect in patients with congenital adrenal hyperplasia by 21-hydroxylase deficiency before obtaining the result of the newborn screening program of the autonomous Community of Madrid.]
María Sanz Fernández, Marina Mora Sitja, Lucía Carrascón González Pinto, et al.
BMC Genetics
|
September 1, 2016
Characterization of novel SSR markers in diverse sainfoin (Onobrychis viciifolia) germplasm
Katharina Kempf, Marina Mora-Ortiz, Lydia M J Smith, et al.
Frontiers in Molecular Biosciences
|
October 18, 2016
DNAJB6 Myopathies: Focused Review on an Emerging and Expanding Group of Myopathies
Alessandra Ruggieri, Simona Saredi, Simona Zanotti, et al.
Page
of 13
Search research articles
Search
Showing results (11-20 of 122) with videos related to
Sort By:
Page
of 13
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
April 15, 2008
LAMA2 stop-codon mutation: merosin-deficient congenital muscular dystrophy with occipital polymicrogyria, epilepsy and psychomotor regression
Piernanda Vigliano, Patrizia Dassi, Claudia Di Blasi, et al.
Metabolomics : Official Journal of the Metabolomic Society
|
June 11, 2019
NMR metabolomics identifies over 60 biomarkers associated with Type II Diabetes impairment in db/db mice
Marina Mora-Ortiz, Patricia Nuñez Ramos, Alain Oregioni, et al.
Neuromuscular Disorders : NMD
|
November 8, 2008
Danon disease: a novel LAMP2 mutation affecting the pre-mRNA splicing and causing aberrant transcripts and partial protein expression
Claudia Di Blasi, Laura Jarre, Flavia Blasevich, et al.
Genes & Diseases
|
February 11, 2021
A novel <i>PNPLA2</i> mutation causing total loss of RNA and protein expression in two NLSDM siblings with early onset but slowly progressive severe myopathy
Daniela Tavian, Lorenzo Maggi, Marina Mora, et al.
Pediatric Neurology
|
September 4, 2007
Severe congenital muscular dystrophy in a LAMA2-mutated case
Claudia Di Blasi, Nens van Alfen, Francesca Colleoni, et al.
Revista Espanola De Salud Publica
|
December 16, 2020
[Impact of the COVID-19 pandemic on Neonatal Screening for Congenital Hypothyroidism.]
Marina Mora Sitja, María Sanz Fernández, Lucía Carrascón González-Pinto, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|
June 23, 2011
Pilot trial of simvastatin in the treatment of sporadic inclusion-body myositis
Cristina Sancricca, Marina Mora, Enzo Ricci, et al.
Revista Espanola De Salud Publica
|
December 29, 2020
[Analysis of the degree of clinical suspect in patients with congenital adrenal hyperplasia by 21-hydroxylase deficiency before obtaining the result of the newborn screening program of the autonomous Community of Madrid.]
María Sanz Fernández, Marina Mora Sitja, Lucía Carrascón González Pinto, et al.
BMC Genetics
|
September 1, 2016
Characterization of novel SSR markers in diverse sainfoin (Onobrychis viciifolia) germplasm
Katharina Kempf, Marina Mora-Ortiz, Lydia M J Smith, et al.
Frontiers in Molecular Biosciences
|
October 18, 2016
DNAJB6 Myopathies: Focused Review on an Emerging and Expanding Group of Myopathies
Alessandra Ruggieri, Simona Saredi, Simona Zanotti, et al.
Page
of 13