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Neurology. Genetics
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November 2, 2020
KCNQ2 encephalopathy manifesting with Rett-like features: A follow-up into adulthood
Mario Mastrangelo, Filippo Manti, Maria Teresa Giannini, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
August 23, 2017
Response to the letter to the Editor regarding "Leigh-like neuroimaging features associated with new bi-allelic mutations in OPA1"
Anna Rubegni, Tiziana Pisano, Claudia Nesti, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
May 3, 2023
Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1
Davide Mei, Elena Parrini, Claudia Bianchini, et al.
Analytical Chemistry
|
June 27, 2009
New strategy for the screening of lysosomal storage disorders: the use of the online trapping-and-cleanup liquid chromatography/mass spectrometry
Giancarlo la Marca, Bruno Casetta, Sabrina Malvagia, et al.
Journal of Child Neurology
|
June 8, 2014
Late-onset epileptic spasms: clinical evidence and outcome in 34 patients
Nadia Ronzano, Giulia Valvo, Anna Rita Ferrari, et al.
Epilepsia
|
August 27, 2004
Early visual seizures and progressive myoclonus epilepsy in neuronopathic Gaucher disease due to a rare compound heterozygosity (N188S/S107L)
Mirella Filocamo, Raffaella Mazzotti, Marina Stroppiano, et al.
Epilepsia
|
November 20, 2008
Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations
Elena Parrini, Anna Rita Ferrari, Thomas Dorn, et al.
Movement Disorders Clinical Practice
|
September 19, 2022
Fever-Induced and Early Morning Paroxysmal Dyskinesia in a Man With <i>GNB1</i> Encephalopathy
Serena Galosi, Luca Pollini, Francesca Nardecchia, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
November 4, 2015
Pitfalls in the detection of gross gene rearrangements using MLPA in Fabry disease
Lorenzo Ferri, Catia Cavicchi, Agata Fiumara, et al.
Developmental Medicine and Child Neurology
|
November 22, 2014
Recurrent drop attacks in early childhood as presenting symptom of benign hereditary chorea caused by TITF1 gene mutations
Anna Rosati, Beatrice Berti, Federico Melani, et al.
Page
of 61
Search research articles
Search
Showing results (101-110 of 610) with videos related to
Sort By:
Page
of 61
Neurology. Genetics
|
November 2, 2020
KCNQ2 encephalopathy manifesting with Rett-like features: A follow-up into adulthood
Mario Mastrangelo, Filippo Manti, Maria Teresa Giannini, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
August 23, 2017
Response to the letter to the Editor regarding "Leigh-like neuroimaging features associated with new bi-allelic mutations in OPA1"
Anna Rubegni, Tiziana Pisano, Claudia Nesti, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
May 3, 2023
Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1
Davide Mei, Elena Parrini, Claudia Bianchini, et al.
Analytical Chemistry
|
June 27, 2009
New strategy for the screening of lysosomal storage disorders: the use of the online trapping-and-cleanup liquid chromatography/mass spectrometry
Giancarlo la Marca, Bruno Casetta, Sabrina Malvagia, et al.
Journal of Child Neurology
|
June 8, 2014
Late-onset epileptic spasms: clinical evidence and outcome in 34 patients
Nadia Ronzano, Giulia Valvo, Anna Rita Ferrari, et al.
Epilepsia
|
August 27, 2004
Early visual seizures and progressive myoclonus epilepsy in neuronopathic Gaucher disease due to a rare compound heterozygosity (N188S/S107L)
Mirella Filocamo, Raffaella Mazzotti, Marina Stroppiano, et al.
Epilepsia
|
November 20, 2008
Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations
Elena Parrini, Anna Rita Ferrari, Thomas Dorn, et al.
Movement Disorders Clinical Practice
|
September 19, 2022
Fever-Induced and Early Morning Paroxysmal Dyskinesia in a Man With <i>GNB1</i> Encephalopathy
Serena Galosi, Luca Pollini, Francesca Nardecchia, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
November 4, 2015
Pitfalls in the detection of gross gene rearrangements using MLPA in Fabry disease
Lorenzo Ferri, Catia Cavicchi, Agata Fiumara, et al.
Developmental Medicine and Child Neurology
|
November 22, 2014
Recurrent drop attacks in early childhood as presenting symptom of benign hereditary chorea caused by TITF1 gene mutations
Anna Rosati, Beatrice Berti, Federico Melani, et al.
Page
of 61