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Clinical Genetics
|
April 8, 2017
Comprehensive molecular screening strategy of OCLN in band-like calcification with simplified gyration and polymicrogyria
E M Jenkinson, J H Livingston, M C O'Driscoll, et al.
Neuropediatrics
|
March 6, 2004
Coats' plus: a progressive familial syndrome of bilateral Coats' disease, characteristic cerebral calcification, leukoencephalopathy, slow pre- and post-natal linear growth and defects of bone marrow and integument
Y J Crow, J McMenamin, C A Haenggeli, et al.
Molecular Genetics and Metabolism
|
April 7, 1999
The molecular basis of GROD-storing neuronal ceroid lipofuscinoses in Scotland
J B Stephenson, N D Greene, K Y Leung, et al.
Neuropediatrics
|
June 24, 2010
Chilblains as a diagnostic sign of aicardi-goutières syndrome
G M H Abdel-Salam, G Y El-Kamah, G I Rice, et al.
American Journal of Medical Genetics. Part A
|
November 18, 2008
Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype
T A Briggs, N I Wolf, S D'Arrigo, et al.
The British Journal of Dermatology
|
August 19, 2015
Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes
A-C Bursztejn, T A Briggs, Y del Toro Duany, et al.
Human Molecular Genetics
|
March 21, 1998
Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits
H M Mitchison, S L Hofmann, C H Becerra, et al.
Journal of Medical Genetics
|
May 24, 2005
A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21
M Ali, L J Highet, D Lacombe, et al.
American Journal of Human Genetics
|
May 29, 2000
Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21
Y J Crow, A P Jackson, E Roberts, et al.
American Journal of Medical Genetics. Part A
|
December 14, 2007
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)
T A Briggs, G M H Abdel-Salam, M Balicki, et al.
Page
of 4
Search research articles
Search
Showing results (31-40 of 40) with videos related to
Sort By:
Page
of 4
You have reached the last page of results.
This site can display upto 40 results.
Clinical Genetics
|
April 8, 2017
Comprehensive molecular screening strategy of OCLN in band-like calcification with simplified gyration and polymicrogyria
E M Jenkinson, J H Livingston, M C O'Driscoll, et al.
Neuropediatrics
|
March 6, 2004
Coats' plus: a progressive familial syndrome of bilateral Coats' disease, characteristic cerebral calcification, leukoencephalopathy, slow pre- and post-natal linear growth and defects of bone marrow and integument
Y J Crow, J McMenamin, C A Haenggeli, et al.
Molecular Genetics and Metabolism
|
April 7, 1999
The molecular basis of GROD-storing neuronal ceroid lipofuscinoses in Scotland
J B Stephenson, N D Greene, K Y Leung, et al.
Neuropediatrics
|
June 24, 2010
Chilblains as a diagnostic sign of aicardi-goutières syndrome
G M H Abdel-Salam, G Y El-Kamah, G I Rice, et al.
American Journal of Medical Genetics. Part A
|
November 18, 2008
Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype
T A Briggs, N I Wolf, S D'Arrigo, et al.
The British Journal of Dermatology
|
August 19, 2015
Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes
A-C Bursztejn, T A Briggs, Y del Toro Duany, et al.
Human Molecular Genetics
|
March 21, 1998
Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits
H M Mitchison, S L Hofmann, C H Becerra, et al.
Journal of Medical Genetics
|
May 24, 2005
A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21
M Ali, L J Highet, D Lacombe, et al.
American Journal of Human Genetics
|
May 29, 2000
Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21
Y J Crow, A P Jackson, E Roberts, et al.
American Journal of Medical Genetics. Part A
|
December 14, 2007
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)
T A Briggs, G M H Abdel-Salam, M Balicki, et al.
Page
of 4