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Orphanet Journal of Rare Diseases
|
January 20, 2017
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency
Tessa Wassenberg, Marta Molero-Luis, Kathrin Jeltsch, et al.
Journal of Neurology
|
June 14, 2024
CDKL5 deficiency-related neurodevelopmental disorders: a multi-center cohort study in Italy
Giovanni Battista Dell'Isola, Antonella Fattorusso, Francesco Pisani, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
June 20, 2017
Acute diplopia in the pediatric Emergency Department. A cohort multicenter Italian study
Umberto Raucci, Pasquale Parisi, Nicola Vanacore, et al.
Epilepsia
|
October 25, 2025
Clinical and genetic landscape of epilepsies with absence seizures and single-gene etiology
Simona Balestrini, Ilaria Galli, Maria Luisa Ricci, et al.
Orphanet Journal of Rare Diseases
|
August 8, 2020
Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies
Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, et al.
Neurology. Genetics
|
October 23, 2025
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From <i>RNU4-2</i> Variants to Clinical Phenotypes
Pasquale Di Letto, Chiara De Leonibus, Francesca Pia Palmieri, et al.
Orphanet Journal of Rare Diseases
|
May 28, 2020
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH<sub>4</sub>) deficiencies
Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, et al.
Journal of Medical Genetics
|
November 29, 2024
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy
Davide Mei, Simona Balestrini, Elena Parrini, et al.
Nature Communications
|
September 21, 2021
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
Oya Kuseyri Hübschmann, Gabriella Horvath, Elisenda Cortès-Saladelafont, et al.
Pediatric Neurology
|
February 11, 2023
Extended Glasgow Outcome Scale to Evaluate the Functional Impairment of Patients With Subcortical Band Heterotopia: A Multicentric Cross-sectional Study
Irene Toldo, Francesco Brunello, Paola Cavasin, et al.
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Search research articles
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Showing results (71-80 of 84) with videos related to
Sort By:
Page
of 9
Orphanet Journal of Rare Diseases
|
January 20, 2017
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency
Tessa Wassenberg, Marta Molero-Luis, Kathrin Jeltsch, et al.
Journal of Neurology
|
June 14, 2024
CDKL5 deficiency-related neurodevelopmental disorders: a multi-center cohort study in Italy
Giovanni Battista Dell'Isola, Antonella Fattorusso, Francesco Pisani, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
June 20, 2017
Acute diplopia in the pediatric Emergency Department. A cohort multicenter Italian study
Umberto Raucci, Pasquale Parisi, Nicola Vanacore, et al.
Epilepsia
|
October 25, 2025
Clinical and genetic landscape of epilepsies with absence seizures and single-gene etiology
Simona Balestrini, Ilaria Galli, Maria Luisa Ricci, et al.
Orphanet Journal of Rare Diseases
|
August 8, 2020
Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies
Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, et al.
Neurology. Genetics
|
October 23, 2025
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From <i>RNU4-2</i> Variants to Clinical Phenotypes
Pasquale Di Letto, Chiara De Leonibus, Francesca Pia Palmieri, et al.
Orphanet Journal of Rare Diseases
|
May 28, 2020
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH<sub>4</sub>) deficiencies
Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, et al.
Journal of Medical Genetics
|
November 29, 2024
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy
Davide Mei, Simona Balestrini, Elena Parrini, et al.
Nature Communications
|
September 21, 2021
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
Oya Kuseyri Hübschmann, Gabriella Horvath, Elisenda Cortès-Saladelafont, et al.
Pediatric Neurology
|
February 11, 2023
Extended Glasgow Outcome Scale to Evaluate the Functional Impairment of Patients With Subcortical Band Heterotopia: A Multicentric Cross-sectional Study
Irene Toldo, Francesco Brunello, Paola Cavasin, et al.
Page
of 9