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Journal of Medical Genetics
|
March 16, 2016
Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain
Stella Zhang, Saghira Malik Sharif, Ya-Chun Chen, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
September 25, 2004
A novel family with an unusual early-onset generalized dystonia
Giovanni Fabbrini, Francesco Brancati, Laura Vacca, et al.
Nature Reviews. Disease Primers
|
September 22, 2018
Dystonia
Bettina Balint, Niccolò E Mencacci, Enza Maria Valente, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
September 25, 2004
Opioid binding in DYT1 primary torsion dystonia: an 11C-diprenorphine PET study
Alan L Whone, Sarah Von Spiczak, Mark Edwards, et al.
Journal of Medical Genetics
|
December 3, 2024
Novel <i>HYLS1</i> variants associated with Joubert syndrome suggest potential genotype-phenotype correlates
Simone Gana, Fulvio D'Abrusco, Roberta Nicotra, et al.
Preventing Chronic Disease
|
December 15, 2012
Association between self-reported household practices and body mass index of US children and adolescents, 2005
Louise C Mâsse, Heidi M Blanck, Maria Valente, et al.
American Journal of Medical Genetics. Part A
|
June 23, 2025
A Novel Pathogenic Variant in CRB1 as the Cause of Non-Syndromic Retinitis Pigmentosa in a Geographical Isolate in Northern Italy
Andrea Guala, Fabio Sirchia, Claudia Scotti, et al.
European Journal of Clinical Investigation
|
May 12, 2026
Establishing a Zebrafish Functional Assay to Assess the Pathogenicity of Variants of Uncertain Significance in Ciliopathies
Carla Aresi, Francesca Tonelli, Concetta Mazzotta, et al.
Brain & Development
|
November 29, 2022
A novel variant in NEUROD2 in a patient with Rett-like phenotype points to Glu130 codon as a mutational hotspot
Davide Politano, Simone Gana, Elena Pezzotti, et al.
Epilepsy Research
|
March 18, 2014
A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES)
Ginevra Zanni, Sabina Barresi, Roni Cohen, et al.
Page
of 36
Search research articles
Search
Showing results (101-110 of 358) with videos related to
Sort By:
Page
of 36
Journal of Medical Genetics
|
March 16, 2016
Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain
Stella Zhang, Saghira Malik Sharif, Ya-Chun Chen, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
September 25, 2004
A novel family with an unusual early-onset generalized dystonia
Giovanni Fabbrini, Francesco Brancati, Laura Vacca, et al.
Nature Reviews. Disease Primers
|
September 22, 2018
Dystonia
Bettina Balint, Niccolò E Mencacci, Enza Maria Valente, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
September 25, 2004
Opioid binding in DYT1 primary torsion dystonia: an 11C-diprenorphine PET study
Alan L Whone, Sarah Von Spiczak, Mark Edwards, et al.
Journal of Medical Genetics
|
December 3, 2024
Novel <i>HYLS1</i> variants associated with Joubert syndrome suggest potential genotype-phenotype correlates
Simone Gana, Fulvio D'Abrusco, Roberta Nicotra, et al.
Preventing Chronic Disease
|
December 15, 2012
Association between self-reported household practices and body mass index of US children and adolescents, 2005
Louise C Mâsse, Heidi M Blanck, Maria Valente, et al.
American Journal of Medical Genetics. Part A
|
June 23, 2025
A Novel Pathogenic Variant in CRB1 as the Cause of Non-Syndromic Retinitis Pigmentosa in a Geographical Isolate in Northern Italy
Andrea Guala, Fabio Sirchia, Claudia Scotti, et al.
European Journal of Clinical Investigation
|
May 12, 2026
Establishing a Zebrafish Functional Assay to Assess the Pathogenicity of Variants of Uncertain Significance in Ciliopathies
Carla Aresi, Francesca Tonelli, Concetta Mazzotta, et al.
Brain & Development
|
November 29, 2022
A novel variant in NEUROD2 in a patient with Rett-like phenotype points to Glu130 codon as a mutational hotspot
Davide Politano, Simone Gana, Elena Pezzotti, et al.
Epilepsy Research
|
March 18, 2014
A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES)
Ginevra Zanni, Sabina Barresi, Roni Cohen, et al.
Page
of 36