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Journal of Medical Genetics
|
January 3, 2001
Leucodystrophy and oculocutaneous albinism in a child with an 11q14 deletion
I Coupry, L Taine, C Goizet, et al.
European Journal of Neurology
|
August 26, 2006
Analysis of the effect of aluminum in drinking water and transferrin C2 allele on Alzheimer's disease
V Rondeau, A Iron, L Letenneur, et al.
Human Genetics
|
September 1, 1987
Multipoint genetic mapping of the Xq26-q28 region in families with fragile X mental retardation and in normal families reveals tight linkage of markers in q26-q27
I Oberlé, G Camerino, K Wrogemann, et al.
Cold Spring Harbor Symposia on Quantitative Biology
|
January 1, 1986
Genetic mapping of the human X chromosome: linkage analysis of the q26-q28 region that includes the fragile X locus and isolation of expressed sequences
J L Mandel, B Arveiler, G Camerino, et al.
American Journal of Human Genetics
|
February 1, 1988
Genetic mapping of the Xq27-q28 region: new RFLP markers useful for diagnostic applications in fragile-X and hemophilia-B families
B Arveiler, I Oberlé, A Vincent, et al.
Clinical Genetics
|
June 16, 2017
Further delineation of the phenotype caused by biallelic variants in the WDR4 gene
A Trimouille, E Lasseaux, P Barat, et al.
Neuropediatrics
|
July 4, 2007
Bardet-biedl syndrome and brain abnormalities
C Rooryck, S Pelras, J-F Chateil, et al.
Genomics
|
November 1, 2000
Mapping, characterization, and expression analysis of the SM-20 human homologue, c1orf12, and identification of a novel related gene, SCAND2
D Dupuy, I Aubert, V G Dupérat, et al.
Lancet (London, England)
|
December 2, 1989
Close linkage of hypervariable marker DXS255 to disease locus of Wiskott-Aldrich syndrome
G de Saint Basile, B Arveiler, N J Fraser, et al.
American Journal of Medical Genetics. Part A
|
June 27, 2015
Homozygous 16p13.11 duplication associated with mild intellectual disability and urinary tract malformations in two siblings born from consanguineous parents
N Houcinat, B Llanas, S Moutton, et al.
Page
of 7
Search research articles
Search
Showing results (31-40 of 64) with videos related to
Sort By:
Page
of 7
Journal of Medical Genetics
|
January 3, 2001
Leucodystrophy and oculocutaneous albinism in a child with an 11q14 deletion
I Coupry, L Taine, C Goizet, et al.
European Journal of Neurology
|
August 26, 2006
Analysis of the effect of aluminum in drinking water and transferrin C2 allele on Alzheimer's disease
V Rondeau, A Iron, L Letenneur, et al.
Human Genetics
|
September 1, 1987
Multipoint genetic mapping of the Xq26-q28 region in families with fragile X mental retardation and in normal families reveals tight linkage of markers in q26-q27
I Oberlé, G Camerino, K Wrogemann, et al.
Cold Spring Harbor Symposia on Quantitative Biology
|
January 1, 1986
Genetic mapping of the human X chromosome: linkage analysis of the q26-q28 region that includes the fragile X locus and isolation of expressed sequences
J L Mandel, B Arveiler, G Camerino, et al.
American Journal of Human Genetics
|
February 1, 1988
Genetic mapping of the Xq27-q28 region: new RFLP markers useful for diagnostic applications in fragile-X and hemophilia-B families
B Arveiler, I Oberlé, A Vincent, et al.
Clinical Genetics
|
June 16, 2017
Further delineation of the phenotype caused by biallelic variants in the WDR4 gene
A Trimouille, E Lasseaux, P Barat, et al.
Neuropediatrics
|
July 4, 2007
Bardet-biedl syndrome and brain abnormalities
C Rooryck, S Pelras, J-F Chateil, et al.
Genomics
|
November 1, 2000
Mapping, characterization, and expression analysis of the SM-20 human homologue, c1orf12, and identification of a novel related gene, SCAND2
D Dupuy, I Aubert, V G Dupérat, et al.
Lancet (London, England)
|
December 2, 1989
Close linkage of hypervariable marker DXS255 to disease locus of Wiskott-Aldrich syndrome
G de Saint Basile, B Arveiler, N J Fraser, et al.
American Journal of Medical Genetics. Part A
|
June 27, 2015
Homozygous 16p13.11 duplication associated with mild intellectual disability and urinary tract malformations in two siblings born from consanguineous parents
N Houcinat, B Llanas, S Moutton, et al.
Page
of 7