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Orphanet Journal of Rare Diseases
|
April 4, 2025
Biological pathways leading to septo-optic dysplasia: a review
Ludovica Pasca, Davide Politano, Federica Morelli, et al.
American Journal of Medical Genetics. Part A
|
September 5, 2020
Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith-Lemli-Opitz syndrome
Simone Gana, Massimo Plumari, Elena Rossi, et al.
American Journal of Medical Genetics. Part A
|
May 27, 2024
LZTFL1, a rare cause of Bardet-Biedl syndrome: A new patient with severe short stature and moderate intellectual disability, more than casual associations?
Simone Gana, Marta Di Biagio, Laura Carraro, et al.
American Journal of Human Genetics
|
August 9, 2003
Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation
Enza Maria Valente, Damiano Carmelo Salpietro, Francesco Brancati, et al.
Movement Disorders Clinical Practice
|
June 19, 2023
Dystonia as Presenting Feature of Compound Heterozygous PMPCA Gene Variants
Tiziana De Santis, Valentina Serpieri, Tommaso Biagini, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
June 16, 2004
Deep brain stimulation in myoclonus-dystonia syndrome
Laura Cif, Enza Maria Valente, Simone Hemm, et al.
American Journal of Medical Genetics. Part A
|
October 29, 2021
PUS3-related disorder: Report of a novel patient and delineation of the phenotypic spectrum
Alessandro Borghesi, Massimo Plumari, Elena Rossi, et al.
Journal of Neurochemistry
|
January 27, 2009
Mutant Pink1 induces mitochondrial dysfunction in a neuronal cell model of Parkinson's disease by disturbing calcium flux
Roberta Marongiu, Brian Spencer, Leslie Crews, et al.
Nature Reviews. Disease Primers
|
October 21, 2018
Author Correction: Dystonia
Bettina Balint, Niccolò E Mencacci, Enza Maria Valente, et al.
Annals of Neurology
|
November 26, 2002
Clinical and subclinical dopaminergic dysfunction in PARK6-linked parkinsonism: an 18F-dopa PET study
Naheed L Khan, Enza Maria Valente, Anna Rita Bentivoglio, et al.
Page
of 34
Search research articles
Search
Showing results (81-90 of 335) with videos related to
Sort By:
Page
of 34
Orphanet Journal of Rare Diseases
|
April 4, 2025
Biological pathways leading to septo-optic dysplasia: a review
Ludovica Pasca, Davide Politano, Federica Morelli, et al.
American Journal of Medical Genetics. Part A
|
September 5, 2020
Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith-Lemli-Opitz syndrome
Simone Gana, Massimo Plumari, Elena Rossi, et al.
American Journal of Medical Genetics. Part A
|
May 27, 2024
LZTFL1, a rare cause of Bardet-Biedl syndrome: A new patient with severe short stature and moderate intellectual disability, more than casual associations?
Simone Gana, Marta Di Biagio, Laura Carraro, et al.
American Journal of Human Genetics
|
August 9, 2003
Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation
Enza Maria Valente, Damiano Carmelo Salpietro, Francesco Brancati, et al.
Movement Disorders Clinical Practice
|
June 19, 2023
Dystonia as Presenting Feature of Compound Heterozygous PMPCA Gene Variants
Tiziana De Santis, Valentina Serpieri, Tommaso Biagini, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
June 16, 2004
Deep brain stimulation in myoclonus-dystonia syndrome
Laura Cif, Enza Maria Valente, Simone Hemm, et al.
American Journal of Medical Genetics. Part A
|
October 29, 2021
PUS3-related disorder: Report of a novel patient and delineation of the phenotypic spectrum
Alessandro Borghesi, Massimo Plumari, Elena Rossi, et al.
Journal of Neurochemistry
|
January 27, 2009
Mutant Pink1 induces mitochondrial dysfunction in a neuronal cell model of Parkinson's disease by disturbing calcium flux
Roberta Marongiu, Brian Spencer, Leslie Crews, et al.
Nature Reviews. Disease Primers
|
October 21, 2018
Author Correction: Dystonia
Bettina Balint, Niccolò E Mencacci, Enza Maria Valente, et al.
Annals of Neurology
|
November 26, 2002
Clinical and subclinical dopaminergic dysfunction in PARK6-linked parkinsonism: an 18F-dopa PET study
Naheed L Khan, Enza Maria Valente, Anna Rita Bentivoglio, et al.
Page
of 34