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Neuromuscular Disorders : NMD
|
March 29, 2005
Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease)
J A Lobrinus, D F Schorderet, M Payot, et al.
Journal of Medical Genetics
|
December 1, 1998
Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype
M Longy, V Coulon, B Duboué, et al.
American Journal of Human Genetics
|
February 1, 1997
Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1)
M D Lalioti, M Mirotsou, C Buresi, et al.
Journal of Medical Genetics
|
February 1, 1996
The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease
E Sidransky, N Tayebi, B K Stubblefield, et al.
Journal of Medical Genetics
|
July 5, 2005
Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions
C Howald, G Merla, M C Digilio, et al.
American Journal of Medical Genetics
|
June 8, 2001
Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome
I D Krantz, E Tonkin, M Smith, et al.
Journal of Medical Genetics
|
December 10, 2002
Thrombocytopenia-absent radius syndrome: a clinical genetic study
K L Greenhalgh, R T Howell, A Bottani, et al.
American Journal of Human Genetics
|
August 12, 1999
The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations
U Radhakrishna, D Bornholdt, H S Scott, et al.
American Journal of Human Genetics
|
June 13, 1998
A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset
M D Lalioti, H S Scott, P Genton, et al.
Human Genomics
|
June 30, 2016
Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders
S Fokstuen, P Makrythanasis, E Hammar, et al.
Page
of 3
Search research articles
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Showing results (21-30 of 30) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 30 results.
Neuromuscular Disorders : NMD
|
March 29, 2005
Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease)
J A Lobrinus, D F Schorderet, M Payot, et al.
Journal of Medical Genetics
|
December 1, 1998
Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype
M Longy, V Coulon, B Duboué, et al.
American Journal of Human Genetics
|
February 1, 1997
Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1)
M D Lalioti, M Mirotsou, C Buresi, et al.
Journal of Medical Genetics
|
February 1, 1996
The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease
E Sidransky, N Tayebi, B K Stubblefield, et al.
Journal of Medical Genetics
|
July 5, 2005
Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions
C Howald, G Merla, M C Digilio, et al.
American Journal of Medical Genetics
|
June 8, 2001
Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome
I D Krantz, E Tonkin, M Smith, et al.
Journal of Medical Genetics
|
December 10, 2002
Thrombocytopenia-absent radius syndrome: a clinical genetic study
K L Greenhalgh, R T Howell, A Bottani, et al.
American Journal of Human Genetics
|
August 12, 1999
The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations
U Radhakrishna, D Bornholdt, H S Scott, et al.
American Journal of Human Genetics
|
June 13, 1998
A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset
M D Lalioti, H S Scott, P Genton, et al.
Human Genomics
|
June 30, 2016
Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders
S Fokstuen, P Makrythanasis, E Hammar, et al.
Page
of 3