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Clinical Genetics
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August 18, 1999
Further evidence from two families that craniofrontonasal dysplasia maps to Xp22
L J Pulleyn, R M Winter, W Reardon, et al.
Journal of Medical Genetics
|
July 5, 2003
Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy
J Kohlhase, L Schubert, M Liebers, et al.
American Journal of Human Genetics
|
April 1, 1994
Evidence for locus heterogeneity in acrocephalosyndactyly: a refined localization for the Saethre-Chotzen syndrome locus on distal chromosome 7p--and exclusion of Jackson-Weiss syndrome from craniosynostosis loci on 7p and 5q
L van Herwerden, C S Rose, W Reardon, et al.
The British Journal of Ophthalmology
|
May 29, 1998
Optic disc anomalies and frontonasal dysplasia
P Hodgkins, M Lees, J Lawson, et al.
Journal of Medical Genetics
|
September 1, 1996
A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans
D Wilkes, P Rutland, L J Pulleyn, et al.
Human Molecular Genetics
|
April 18, 2000
Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna
W Wuyts, W Reardon, S Preis, et al.
Journal of Medical Genetics
|
November 1, 1992
Minimal expression of myotonic dystrophy: a clinical and molecular analysis
W Reardon, H G Harley, J D Brook, et al.
Genomics
|
December 1, 1991
A multipedigree linkage study of X-linked deafness: linkage to Xq13-q21 and evidence for genetic heterogeneity
W Reardon, H R Middleton-Price, L Sandkuijl, et al.
Lancet (London, England)
|
December 5, 1992
Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA
W Reardon, R J Ross, M G Sweeney, et al.
Lancet (London, England)
|
May 9, 1992
Unstable DNA sequence in myotonic dystrophy
H G Harley, S A Rundle, W Reardon, et al.
Page
of 17
Search research articles
Search
Showing results (101-110 of 166) with videos related to
Sort By:
Page
of 17
Clinical Genetics
|
August 18, 1999
Further evidence from two families that craniofrontonasal dysplasia maps to Xp22
L J Pulleyn, R M Winter, W Reardon, et al.
Journal of Medical Genetics
|
July 5, 2003
Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy
J Kohlhase, L Schubert, M Liebers, et al.
American Journal of Human Genetics
|
April 1, 1994
Evidence for locus heterogeneity in acrocephalosyndactyly: a refined localization for the Saethre-Chotzen syndrome locus on distal chromosome 7p--and exclusion of Jackson-Weiss syndrome from craniosynostosis loci on 7p and 5q
L van Herwerden, C S Rose, W Reardon, et al.
The British Journal of Ophthalmology
|
May 29, 1998
Optic disc anomalies and frontonasal dysplasia
P Hodgkins, M Lees, J Lawson, et al.
Journal of Medical Genetics
|
September 1, 1996
A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans
D Wilkes, P Rutland, L J Pulleyn, et al.
Human Molecular Genetics
|
April 18, 2000
Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna
W Wuyts, W Reardon, S Preis, et al.
Journal of Medical Genetics
|
November 1, 1992
Minimal expression of myotonic dystrophy: a clinical and molecular analysis
W Reardon, H G Harley, J D Brook, et al.
Genomics
|
December 1, 1991
A multipedigree linkage study of X-linked deafness: linkage to Xq13-q21 and evidence for genetic heterogeneity
W Reardon, H R Middleton-Price, L Sandkuijl, et al.
Lancet (London, England)
|
December 5, 1992
Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA
W Reardon, R J Ross, M G Sweeney, et al.
Lancet (London, England)
|
May 9, 1992
Unstable DNA sequence in myotonic dystrophy
H G Harley, S A Rundle, W Reardon, et al.
Page
of 17