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Clinical Genetics
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July 26, 2014
Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia
E Tham, G Nishimura, S Geiberger, et al.
Pediatric Radiology
|
February 24, 2001
Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype
S L Unger, M D Briggs, P Holden, et al.
Genes, Chromosomes & Cancer
|
June 1, 1993
Characterization of two 11q23.3-11q24 deletions and mapping of associated anonymous DNA markers
J P Sanford, S N Sait, L Pan, et al.
Nature Genetics
|
December 30, 1999
Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I
P Momeni, G Glöckner, O Schmidt, et al.
Biochemical and Biophysical Research Communications
|
August 31, 2000
Genomic structure and in vivo expression of the human organic anion transporter 1 (hOAT1) gene
A Bahn, D Prawitt, D Buttler, et al.
Cell
|
December 16, 1994
Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9
T Wagner, J Wirth, J Meyer, et al.
Nature Genetics
|
February 15, 2001
Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome
R Morello, G Zhou, S D Dreyer, et al.
American Journal of Human Genetics
|
April 1, 1996
Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11
O Bartsch, W Wuyts, W Van Hul, et al.
European Journal of Human Genetics : EJHG
|
October 22, 1998
Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2)
S Schuffenhauer, P Lichtner, P Peykar-Derakhshandeh, et al.
Journal of Medical Genetics
|
January 15, 2003
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W
D Ballhausen, L Bonafé, P Terhal, et al.
Page
of 12
Search research articles
Search
Showing results (101-110 of 120) with videos related to
Sort By:
Page
of 12
Clinical Genetics
|
July 26, 2014
Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia
E Tham, G Nishimura, S Geiberger, et al.
Pediatric Radiology
|
February 24, 2001
Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype
S L Unger, M D Briggs, P Holden, et al.
Genes, Chromosomes & Cancer
|
June 1, 1993
Characterization of two 11q23.3-11q24 deletions and mapping of associated anonymous DNA markers
J P Sanford, S N Sait, L Pan, et al.
Nature Genetics
|
December 30, 1999
Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I
P Momeni, G Glöckner, O Schmidt, et al.
Biochemical and Biophysical Research Communications
|
August 31, 2000
Genomic structure and in vivo expression of the human organic anion transporter 1 (hOAT1) gene
A Bahn, D Prawitt, D Buttler, et al.
Cell
|
December 16, 1994
Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9
T Wagner, J Wirth, J Meyer, et al.
Nature Genetics
|
February 15, 2001
Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome
R Morello, G Zhou, S D Dreyer, et al.
American Journal of Human Genetics
|
April 1, 1996
Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11
O Bartsch, W Wuyts, W Van Hul, et al.
European Journal of Human Genetics : EJHG
|
October 22, 1998
Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2)
S Schuffenhauer, P Lichtner, P Peykar-Derakhshandeh, et al.
Journal of Medical Genetics
|
January 15, 2003
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W
D Ballhausen, L Bonafé, P Terhal, et al.
Page
of 12