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American Journal of Medical Genetics
|
October 23, 1995
Presymptomatic diagnosis of spinal muscular atrophy (SMA) III confirmed by deletion analysis of the survival motor neuron gene
C Brahe, S Zappata, E Bertini
Human Genetics
|
March 1, 1996
Deletions in the SMN gene in infantile and adult spinal muscular atrophy patients from the same family
S Zappata, F Tiziano, G Neri, et al.
Lancet (London, England)
|
September 16, 1995
Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy
C Brahe, S Servidei, S Zappata, et al.
Human Molecular Genetics
|
December 1, 1996
Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I
C Brahe, O Clermont, S Zappata, et al.
American Journal of Medical Genetics
|
August 8, 1997
Partial 9p monosomy in a girl with a tdic(9p23;13p11) translocation, minor anomalies, obesity, and mental retardation
A Serra, R Bova, G Bellanova, et al.
European Journal of Human Genetics : EJHG
|
May 11, 1999
SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis
A L Patrizi, F Tiziano, S Zappata, et al.
American Journal of Medical Genetics
|
February 1, 1993
Presymptomatic diagnosis of SMA III by genotype analysis
C Brahe, S Zappata, I Velonà, et al.
Human Molecular Genetics
|
June 1, 1993
Dinucleotide repeat polymorphism proximal to the spinal muscular atrophy region at the D5S524 locus
I Velonà, S Zappata, C M Tops, et al.
Human Molecular Genetics
|
November 11, 1999
Detection of the survival motor neuron (SMN) genes by FISH: further evidence for a role for SMN2 in the modulation of disease severity in SMA patients
T Vitali, V Sossi, F Tiziano, et al.
Human Genetics
|
January 1, 1994
Highly polymorphic repeat marker within the beta-amyloid precursor protein gene
S Zappata, M B Petersen, U König, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 14) with videos related to
Sort By:
Page
of 2
American Journal of Medical Genetics
|
October 23, 1995
Presymptomatic diagnosis of spinal muscular atrophy (SMA) III confirmed by deletion analysis of the survival motor neuron gene
C Brahe, S Zappata, E Bertini
Human Genetics
|
March 1, 1996
Deletions in the SMN gene in infantile and adult spinal muscular atrophy patients from the same family
S Zappata, F Tiziano, G Neri, et al.
Lancet (London, England)
|
September 16, 1995
Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy
C Brahe, S Servidei, S Zappata, et al.
Human Molecular Genetics
|
December 1, 1996
Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I
C Brahe, O Clermont, S Zappata, et al.
American Journal of Medical Genetics
|
August 8, 1997
Partial 9p monosomy in a girl with a tdic(9p23;13p11) translocation, minor anomalies, obesity, and mental retardation
A Serra, R Bova, G Bellanova, et al.
European Journal of Human Genetics : EJHG
|
May 11, 1999
SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis
A L Patrizi, F Tiziano, S Zappata, et al.
American Journal of Medical Genetics
|
February 1, 1993
Presymptomatic diagnosis of SMA III by genotype analysis
C Brahe, S Zappata, I Velonà, et al.
Human Molecular Genetics
|
June 1, 1993
Dinucleotide repeat polymorphism proximal to the spinal muscular atrophy region at the D5S524 locus
I Velonà, S Zappata, C M Tops, et al.
Human Molecular Genetics
|
November 11, 1999
Detection of the survival motor neuron (SMN) genes by FISH: further evidence for a role for SMN2 in the modulation of disease severity in SMA patients
T Vitali, V Sossi, F Tiziano, et al.
Human Genetics
|
January 1, 1994
Highly polymorphic repeat marker within the beta-amyloid precursor protein gene
S Zappata, M B Petersen, U König, et al.
Page
of 2