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Journal of Neurology
|
May 7, 2008
Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II
L Wan, C-C Lee, C-M Hsu, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
March 19, 2005
Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C
C-C Yang, Y-N Su, P-C Chiou, et al.
Zhonghua Minguo Xiao Er Ke Yi Xue Hui Za Zhi [Journal]. Zhonghua Minguo Xiao Er Ke Yi Xue Hui
|
September 1, 1995
Molecular diagnosis of Gaucher disease type II
F J Tsai, H W Chen, C T Peng, et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi
|
April 29, 1998
Mucopolysaccharidosis type II (Hunter's syndrome) in Taiwan
P H Su, W L Hwu, S C Chiang, et al.
Human Mutation
|
May 25, 1999
Molecular genetic study of Pompe disease in Chinese patients in Taiwan
T M Ko, W L Hwu, Y W Lin, et al.
Archives of Disease in Childhood
|
December 24, 2008
Simultaneous detection of mitochondrial DNA depletion and single-exon deletion in the deoxyguanosine gene using array-based comparative genomic hybridisation
N-C Lee, D Dimmock, W-L Hwu, et al.
Pediatric Transplantation
|
August 19, 2009
Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantation
P W Chen, W L Hwu, M C Ho, et al.
Molecular Genetics and Metabolism
|
July 21, 2009
Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study
J E Wraith, N Guffon, M Rohrbach, et al.
Journal of Inherited Metabolic Disease
|
July 3, 2007
Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year
Y-H Chien, N-C Lee, L-K Tsai, et al.
Genetic Counseling (Geneva, Switzerland)
|
May 23, 2007
Prenatal diagnosis and genetic counseling of mucopolysaccharidosis type II (Hunter syndrome)
C P Chen, S P Lin, C Y Tzen, et al.
Page
of 8
Search research articles
Search
Showing results (51-60 of 77) with videos related to
Sort By:
Page
of 8
Journal of Neurology
|
May 7, 2008
Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II
L Wan, C-C Lee, C-M Hsu, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
March 19, 2005
Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C
C-C Yang, Y-N Su, P-C Chiou, et al.
Zhonghua Minguo Xiao Er Ke Yi Xue Hui Za Zhi [Journal]. Zhonghua Minguo Xiao Er Ke Yi Xue Hui
|
September 1, 1995
Molecular diagnosis of Gaucher disease type II
F J Tsai, H W Chen, C T Peng, et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi
|
April 29, 1998
Mucopolysaccharidosis type II (Hunter's syndrome) in Taiwan
P H Su, W L Hwu, S C Chiang, et al.
Human Mutation
|
May 25, 1999
Molecular genetic study of Pompe disease in Chinese patients in Taiwan
T M Ko, W L Hwu, Y W Lin, et al.
Archives of Disease in Childhood
|
December 24, 2008
Simultaneous detection of mitochondrial DNA depletion and single-exon deletion in the deoxyguanosine gene using array-based comparative genomic hybridisation
N-C Lee, D Dimmock, W-L Hwu, et al.
Pediatric Transplantation
|
August 19, 2009
Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantation
P W Chen, W L Hwu, M C Ho, et al.
Molecular Genetics and Metabolism
|
July 21, 2009
Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study
J E Wraith, N Guffon, M Rohrbach, et al.
Journal of Inherited Metabolic Disease
|
July 3, 2007
Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year
Y-H Chien, N-C Lee, L-K Tsai, et al.
Genetic Counseling (Geneva, Switzerland)
|
May 23, 2007
Prenatal diagnosis and genetic counseling of mucopolysaccharidosis type II (Hunter syndrome)
C P Chen, S P Lin, C Y Tzen, et al.
Page
of 8