Search research articles
Contact Us
Filters
Showing results (141-150 of 173) with videos related to
Page
of 18
Sort By:
The Journal of Biological Chemistry
|
June 22, 2018
Consequences of cathepsin C inactivation for membrane exposure of proteinase 3, the target antigen in autoimmune vasculitis
Seda Seren, Maha Rashed Abouzaid, Claudia Eulenberg-Gustavus, et al.
JAMA Neurology
|
February 27, 2018
Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes
Marie Coutelier, Monia B Hammer, Giovanni Stevanin, et al.
Archives of Otolaryngology--Head & Neck Surgery
|
June 22, 2005
GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients
Sandrine Marlin, Delphine Feldmann, Hélène Blons, et al.
Brain : a Journal of Neurology
|
December 15, 2007
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration
Giovanni Stevanin, Hamid Azzedine, Paola Denora, et al.
The FEBS Journal
|
November 27, 2015
Analysis of urinary cathepsin C for diagnosing Papillon-Lefèvre syndrome
Yveline Hamon, Monika Legowska, Patricia Fergelot, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 27, 2025
Type and position of repeat interruptions as determinants of disease severity and expansion size in Friedreich ataxia
Mehdi Benkirane, Cecilia Marelli, Ariane Choumert, et al.
European Journal of Human Genetics : EJHG
|
June 30, 2018
Primary brain calcification: an international study reporting novel variants and associated phenotypes
Eliana Marisa Ramos, Miryam Carecchio, Roberta Lemos, et al.
Journal of Alzheimer'S Disease : JAD
|
December 21, 2012
C9ORF72 repeat expansions in the frontotemporal dementias spectrum of diseases: a flow-chart for genetic testing
Isabelle Le Ber, Agnès Camuzat, Lena Guillot-Noel, et al.
European Journal of Human Genetics : EJHG
|
July 1, 2026
CMIP as a novel candidate gene for neurodevelopmental and neuropsychiatric disorders
Matthias De Wachter, Mathijs B van der Lei, Amber Decleve, et al.
American Journal of Human Genetics
|
October 30, 2012
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome
Virginie Carmignac, Julien Thevenon, Lesley Adès, et al.
Page
of 18
Search research articles
Search
Showing results (141-150 of 173) with videos related to
Sort By:
Page
of 18
The Journal of Biological Chemistry
|
June 22, 2018
Consequences of cathepsin C inactivation for membrane exposure of proteinase 3, the target antigen in autoimmune vasculitis
Seda Seren, Maha Rashed Abouzaid, Claudia Eulenberg-Gustavus, et al.
JAMA Neurology
|
February 27, 2018
Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes
Marie Coutelier, Monia B Hammer, Giovanni Stevanin, et al.
Archives of Otolaryngology--Head & Neck Surgery
|
June 22, 2005
GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients
Sandrine Marlin, Delphine Feldmann, Hélène Blons, et al.
Brain : a Journal of Neurology
|
December 15, 2007
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration
Giovanni Stevanin, Hamid Azzedine, Paola Denora, et al.
The FEBS Journal
|
November 27, 2015
Analysis of urinary cathepsin C for diagnosing Papillon-Lefèvre syndrome
Yveline Hamon, Monika Legowska, Patricia Fergelot, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 27, 2025
Type and position of repeat interruptions as determinants of disease severity and expansion size in Friedreich ataxia
Mehdi Benkirane, Cecilia Marelli, Ariane Choumert, et al.
European Journal of Human Genetics : EJHG
|
June 30, 2018
Primary brain calcification: an international study reporting novel variants and associated phenotypes
Eliana Marisa Ramos, Miryam Carecchio, Roberta Lemos, et al.
Journal of Alzheimer'S Disease : JAD
|
December 21, 2012
C9ORF72 repeat expansions in the frontotemporal dementias spectrum of diseases: a flow-chart for genetic testing
Isabelle Le Ber, Agnès Camuzat, Lena Guillot-Noel, et al.
European Journal of Human Genetics : EJHG
|
July 1, 2026
CMIP as a novel candidate gene for neurodevelopmental and neuropsychiatric disorders
Matthias De Wachter, Mathijs B van der Lei, Amber Decleve, et al.
American Journal of Human Genetics
|
October 30, 2012
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome
Virginie Carmignac, Julien Thevenon, Lesley Adès, et al.
Page
of 18