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Journal of Medical Genetics
|
December 7, 2007
Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation
K Craig, H R Elliott, S M Keers, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
April 1, 2009
Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients
I Trender-Gerhard, M G Sweeney, P Schwingenschuh, et al.
ESMO Open
|
February 23, 2023
A systematic review and meta-analysis of germline BRCA mutations in pancreatic cancer patients identifies global and racial disparities in access to genetic testing
S Paiella, D Azzolina, D Gregori, et al.
Neuromuscular Disorders : NMD
|
January 4, 2011
Variable phenotypes are associated with PMP22 missense mutations
M Russo, M Laurá, J M Polke, et al.
Nature
|
December 10, 1987
Deletion of a DNA sequence at the chromosomal region 3p21 in all major types of lung cancer
K Kok, J Osinga, B Carritt, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
May 19, 2009
GJB1 gene mutations in suspected inflammatory demyelinating neuropathies not responding to treatment
A W Michell, M Laura, J Blake, et al.
Neurology
|
June 1, 2012
A new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1
D L Raja Rayan, A Haworth, R Sud, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
June 7, 2007
Multiple mitochondrial DNA deletions in monozygotic twins with OPMD
M M K Muqit, A J Larner, M G Sweeney, et al.
Neurology
|
July 1, 2011
Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations
J M Polke, M Laurá, D Pareyson, et al.
Brain : a Journal of Neurology
|
February 9, 2002
Two large British kindreds with familial Parkinson's disease: a clinico-pathological and genetic study
D J Nicholl, J R Vaughan, N L Khan, et al.
Page
of 11
Search research articles
Search
Showing results (91-100 of 106) with videos related to
Sort By:
Page
of 11
Journal of Medical Genetics
|
December 7, 2007
Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation
K Craig, H R Elliott, S M Keers, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
April 1, 2009
Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients
I Trender-Gerhard, M G Sweeney, P Schwingenschuh, et al.
ESMO Open
|
February 23, 2023
A systematic review and meta-analysis of germline BRCA mutations in pancreatic cancer patients identifies global and racial disparities in access to genetic testing
S Paiella, D Azzolina, D Gregori, et al.
Neuromuscular Disorders : NMD
|
January 4, 2011
Variable phenotypes are associated with PMP22 missense mutations
M Russo, M Laurá, J M Polke, et al.
Nature
|
December 10, 1987
Deletion of a DNA sequence at the chromosomal region 3p21 in all major types of lung cancer
K Kok, J Osinga, B Carritt, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
May 19, 2009
GJB1 gene mutations in suspected inflammatory demyelinating neuropathies not responding to treatment
A W Michell, M Laura, J Blake, et al.
Neurology
|
June 1, 2012
A new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1
D L Raja Rayan, A Haworth, R Sud, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
June 7, 2007
Multiple mitochondrial DNA deletions in monozygotic twins with OPMD
M M K Muqit, A J Larner, M G Sweeney, et al.
Neurology
|
July 1, 2011
Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations
J M Polke, M Laurá, D Pareyson, et al.
Brain : a Journal of Neurology
|
February 9, 2002
Two large British kindreds with familial Parkinson's disease: a clinico-pathological and genetic study
D J Nicholl, J R Vaughan, N L Khan, et al.
Page
of 11