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Neurogenetics
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June 30, 2025
Complete commissural agenesis in a child with Noonan-like syndrome with loose anagen hair 2
Simone Gana, Luisa Piccinni, Elisa Rognone, et al.
American Journal of Medical Genetics. Part A
|
November 11, 2022
Expanding the spectrum of clinical severity of AICA-ribosiduria: Report of two siblings with mild phenotype caused by a novel pathogenic variant in ATIC gene
Jessica Galli, Enza Maria Valente, Joseph Dewulf, et al.
Cells
|
February 25, 2022
PINK1 Protects against Staurosporine-Induced Apoptosis by Interacting with Beclin1 and Impairing Its Pro-Apoptotic Cleavage
Francesco Brunelli, Liliana Torosantucci, Vania Gelmetti, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
February 22, 2021
Profiling the Biochemical Signature of GBA-Related Parkinson's Disease in Peripheral Blood Mononuclear Cells
Micol Avenali, Silvia Cerri, Gerardo Ongari, et al.
European Journal of Human Genetics : EJHG
|
April 15, 2004
Autosomal dominant Brody disease cosegregates with a chromosomal (2;7)(p11.2;p12.1) translocation in an Italian family
Antonio Novelli, Enza Maria Valente, Laura Bernardini, et al.
Parkinsonism & Related Disorders
|
August 22, 2020
KCTD17-related myoclonus-dystonia syndrome: clinical and electrophysiological findings of a patient with atypical late onset
Massimiliano Todisco, Simone Gana, Giuseppe Cosentino, et al.
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.
Arquivos De Neuro-Psiquiatria
|
March 30, 2022
Dialysis headache: characteristics, impact and cerebrovascular evaluation
Eduardo Sousa Melo, Rodrigo Pinto Pedrosa, Filipe Carrilho Aguiar, et al.
Journal of Autism and Developmental Disorders
|
May 3, 2024
Feasibility and Efficacy of a Virtual Reality Social Prediction Training in Children and Young Adults with Congenital Cerebellar Malformations
Niccolò Butti, Emilia Biffi, Romina Romaniello, 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.
Page
of 36
Search research articles
Search
Showing results (81-90 of 358) with videos related to
Sort By:
Page
of 36
Neurogenetics
|
June 30, 2025
Complete commissural agenesis in a child with Noonan-like syndrome with loose anagen hair 2
Simone Gana, Luisa Piccinni, Elisa Rognone, et al.
American Journal of Medical Genetics. Part A
|
November 11, 2022
Expanding the spectrum of clinical severity of AICA-ribosiduria: Report of two siblings with mild phenotype caused by a novel pathogenic variant in ATIC gene
Jessica Galli, Enza Maria Valente, Joseph Dewulf, et al.
Cells
|
February 25, 2022
PINK1 Protects against Staurosporine-Induced Apoptosis by Interacting with Beclin1 and Impairing Its Pro-Apoptotic Cleavage
Francesco Brunelli, Liliana Torosantucci, Vania Gelmetti, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
February 22, 2021
Profiling the Biochemical Signature of GBA-Related Parkinson's Disease in Peripheral Blood Mononuclear Cells
Micol Avenali, Silvia Cerri, Gerardo Ongari, et al.
European Journal of Human Genetics : EJHG
|
April 15, 2004
Autosomal dominant Brody disease cosegregates with a chromosomal (2;7)(p11.2;p12.1) translocation in an Italian family
Antonio Novelli, Enza Maria Valente, Laura Bernardini, et al.
Parkinsonism & Related Disorders
|
August 22, 2020
KCTD17-related myoclonus-dystonia syndrome: clinical and electrophysiological findings of a patient with atypical late onset
Massimiliano Todisco, Simone Gana, Giuseppe Cosentino, et al.
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.
Arquivos De Neuro-Psiquiatria
|
March 30, 2022
Dialysis headache: characteristics, impact and cerebrovascular evaluation
Eduardo Sousa Melo, Rodrigo Pinto Pedrosa, Filipe Carrilho Aguiar, et al.
Journal of Autism and Developmental Disorders
|
May 3, 2024
Feasibility and Efficacy of a Virtual Reality Social Prediction Training in Children and Young Adults with Congenital Cerebellar Malformations
Niccolò Butti, Emilia Biffi, Romina Romaniello, 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.
Page
of 36