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Revue Medicale Suisse
|
March 28, 2006
[Clinical and genetics aspects of Alport syndrome]
D Golshayan, J P Venetz, F Cachat, et al.
Cytogenetic and Genome Research
|
September 30, 2005
Segregation of chromosomes in sperm of Robertsonian translocation carriers
C Roux, C Tripogney, F Morel, et al.
Human Mutation
|
April 11, 2001
Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry disease
D P Germain, D Salard, F Fellmann, et al.
Gastroenterologie Clinique Et Biologique
|
August 25, 2001
[Repetitive acute pancreatitis in a late-diagnosed cystic fibrosis: prevention of relapses by octreotide in the long term]
A Weber, P E Queneau, J C Polio, et al.
La Nouvelle Presse Medicale
|
May 3, 1980
[Treatment of bullous pemphigoid by plasma exchanges--two cases (author's transl)]
G Rifle, J M Chalopin, Y Tanter, et al.
Neurology
|
January 13, 2006
SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years
M Namekawa, P Ribai, I Nelson, et al.
European Journal of Pediatrics
|
August 1, 1996
Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz and the lethal acrodysgenital syndromes
V Cormier-Daire, C Wolf, A Munnich, et al.
Journal of Medical Genetics
|
January 1, 1997
Fortuitous detection of uniparental isodisomy of chromosome 6
M C Bittencourt, M A Morris, J Chabod, et al.
Human Mutation
|
February 19, 2000
Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia
A Taillandier, E Cozien, F Muller, et al.
Annales De Genetique
|
July 18, 2002
French multi-centric study of 2000 amniotic fluid interphase FISH analyses from high-risk pregnancies and review of the literature
I Luquet, F Mugneret, P D Athis, et al.
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of 3
Search research articles
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Showing results (11-20 of 22) with videos related to
Sort By:
Page
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Revue Medicale Suisse
|
March 28, 2006
[Clinical and genetics aspects of Alport syndrome]
D Golshayan, J P Venetz, F Cachat, et al.
Cytogenetic and Genome Research
|
September 30, 2005
Segregation of chromosomes in sperm of Robertsonian translocation carriers
C Roux, C Tripogney, F Morel, et al.
Human Mutation
|
April 11, 2001
Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry disease
D P Germain, D Salard, F Fellmann, et al.
Gastroenterologie Clinique Et Biologique
|
August 25, 2001
[Repetitive acute pancreatitis in a late-diagnosed cystic fibrosis: prevention of relapses by octreotide in the long term]
A Weber, P E Queneau, J C Polio, et al.
La Nouvelle Presse Medicale
|
May 3, 1980
[Treatment of bullous pemphigoid by plasma exchanges--two cases (author's transl)]
G Rifle, J M Chalopin, Y Tanter, et al.
Neurology
|
January 13, 2006
SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years
M Namekawa, P Ribai, I Nelson, et al.
European Journal of Pediatrics
|
August 1, 1996
Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz and the lethal acrodysgenital syndromes
V Cormier-Daire, C Wolf, A Munnich, et al.
Journal of Medical Genetics
|
January 1, 1997
Fortuitous detection of uniparental isodisomy of chromosome 6
M C Bittencourt, M A Morris, J Chabod, et al.
Human Mutation
|
February 19, 2000
Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia
A Taillandier, E Cozien, F Muller, et al.
Annales De Genetique
|
July 18, 2002
French multi-centric study of 2000 amniotic fluid interphase FISH analyses from high-risk pregnancies and review of the literature
I Luquet, F Mugneret, P D Athis, et al.
Page
of 3