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Journal of Medical Genetics
|
June 21, 2005
Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene
L Van Maldergem, H A Siitonen, N Jalkh, et al.
Nature Genetics
|
November 14, 1997
Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22
N A Quaderi, S Schweiger, K Gaudenz, et al.
Nature Genetics
|
November 1, 1996
Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly
E Belloni, M Muenke, E Roessler, et al.
Human Molecular Genetics
|
September 25, 1997
A novel phenotypic pattern in X-linked inheritance: craniofrontonasal syndrome maps to Xp22
G J Feldman, D E Ward, E Lajeunie-Renier, et al.
Human Molecular Genetics
|
November 11, 1999
The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly
L Nanni, J E Ming, M Bocian, et al.
Human Molecular Genetics
|
February 1, 1996
Molecular characterization of breakpoints in patients with holoprosencephaly and definition of the HPE2 critical region 2p21
U Schell, J Wienberg, A Köhler, et al.
Nature Genetics
|
December 1, 1995
Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2
N H Robin, G J Feldman, A L Aronson, et al.
Human Genetics
|
May 26, 1998
Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly
F R Vargas, E Roessler, K Gaudenz, et al.
Nature
|
October 12, 1999
Familial dementia caused by polymerization of mutant neuroserpin
R L Davis, A E Shrimpton, P D Holohan, et al.
Molecular Syndromology
|
November 30, 2011
TGIF Mutations in Human Holoprosencephaly: Correlation between Genotype and Phenotype
A A Keaton, B D Solomon, E F Kauvar, et al.
Page
of 11
Search research articles
Search
Showing results (91-100 of 104) with videos related to
Sort By:
Page
of 11
Journal of Medical Genetics
|
June 21, 2005
Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene
L Van Maldergem, H A Siitonen, N Jalkh, et al.
Nature Genetics
|
November 14, 1997
Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22
N A Quaderi, S Schweiger, K Gaudenz, et al.
Nature Genetics
|
November 1, 1996
Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly
E Belloni, M Muenke, E Roessler, et al.
Human Molecular Genetics
|
September 25, 1997
A novel phenotypic pattern in X-linked inheritance: craniofrontonasal syndrome maps to Xp22
G J Feldman, D E Ward, E Lajeunie-Renier, et al.
Human Molecular Genetics
|
November 11, 1999
The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly
L Nanni, J E Ming, M Bocian, et al.
Human Molecular Genetics
|
February 1, 1996
Molecular characterization of breakpoints in patients with holoprosencephaly and definition of the HPE2 critical region 2p21
U Schell, J Wienberg, A Köhler, et al.
Nature Genetics
|
December 1, 1995
Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2
N H Robin, G J Feldman, A L Aronson, et al.
Human Genetics
|
May 26, 1998
Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly
F R Vargas, E Roessler, K Gaudenz, et al.
Nature
|
October 12, 1999
Familial dementia caused by polymerization of mutant neuroserpin
R L Davis, A E Shrimpton, P D Holohan, et al.
Molecular Syndromology
|
November 30, 2011
TGIF Mutations in Human Holoprosencephaly: Correlation between Genotype and Phenotype
A A Keaton, B D Solomon, E F Kauvar, et al.
Page
of 11