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European Journal of Pediatrics
|
August 16, 2012
Diagnosis delay in West syndrome: misdiagnosis and consequences
Stéphane Auvin, Adam L Hartman, Béatrice Desnous, et al.
European Journal of Medical Genetics
|
April 3, 2022
Mild neurological phenotype in a family carrying a novel N-terminal null GRIN2A variant
Margherita Lucia De Bernardi, Agnese Di Stazio, Alfonso Romano, et al.
American Journal of Medical Genetics. Part A
|
August 21, 2012
De novo 13q12.3-q14.11 deletion involving BRCA2 gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A-T like phenotype
Emilia Cirillo, Rosa Romano, Alfonso Romano, et al.
The Journal of Pediatrics
|
May 6, 2004
Brain damage in glycogen storage disease type I
Daniela Melis, Giancarlo Parenti, Roberto Della Casa, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
August 28, 2022
Electroencephalographic findings in ATRX syndrome: A new case series and review of literature
Salvatore Aiello, Maria Margherita Mancardi, Alfonso Romano, et al.
Molecular Genetics & Genomic Medicine
|
August 12, 2020
Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience
Rita Fischetto, Valentina Palladino, Maria M Mancardi, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy
|
July 24, 2014
A chaperone enhances blood α-glucosidase activity in Pompe disease patients treated with enzyme replacement therapy
Giancarlo Parenti, Simona Fecarotta, Giancarlo la Marca, et al.
Orphanet Journal of Rare Diseases
|
April 19, 2015
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C
Simona Fecarotta, Alfonso Romano, Roberto Della Casa, et al.
Journal of Medical Genetics
|
February 14, 2023
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome
Valentina Serpieri, Giulia Mortarini, Hailey Loucks, et al.
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Search research articles
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Showing results (31-40 of 39) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 39 results.
European Journal of Pediatrics
|
August 16, 2012
Diagnosis delay in West syndrome: misdiagnosis and consequences
Stéphane Auvin, Adam L Hartman, Béatrice Desnous, et al.
European Journal of Medical Genetics
|
April 3, 2022
Mild neurological phenotype in a family carrying a novel N-terminal null GRIN2A variant
Margherita Lucia De Bernardi, Agnese Di Stazio, Alfonso Romano, et al.
American Journal of Medical Genetics. Part A
|
August 21, 2012
De novo 13q12.3-q14.11 deletion involving BRCA2 gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A-T like phenotype
Emilia Cirillo, Rosa Romano, Alfonso Romano, et al.
The Journal of Pediatrics
|
May 6, 2004
Brain damage in glycogen storage disease type I
Daniela Melis, Giancarlo Parenti, Roberto Della Casa, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
August 28, 2022
Electroencephalographic findings in ATRX syndrome: A new case series and review of literature
Salvatore Aiello, Maria Margherita Mancardi, Alfonso Romano, et al.
Molecular Genetics & Genomic Medicine
|
August 12, 2020
Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience
Rita Fischetto, Valentina Palladino, Maria M Mancardi, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy
|
July 24, 2014
A chaperone enhances blood α-glucosidase activity in Pompe disease patients treated with enzyme replacement therapy
Giancarlo Parenti, Simona Fecarotta, Giancarlo la Marca, et al.
Orphanet Journal of Rare Diseases
|
April 19, 2015
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C
Simona Fecarotta, Alfonso Romano, Roberto Della Casa, et al.
Journal of Medical Genetics
|
February 14, 2023
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome
Valentina Serpieri, Giulia Mortarini, Hailey Loucks, et al.
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of 4