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R M Winter

Showing results (171-180 of 219) with videos related to

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Journal of Medical Genetics|May 19, 2001
Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype?B B De Vries, S J Knight, T Homfray, et al.
Nature Genetics|February 1, 1995
The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardationJ Flint, A O Wilkie, V J Buckle, et al.
Clinical Science (London, England : 1979)|April 1, 1984
Polymorphisms in the 5'-flanking region of the insulin gene and non-insulin-dependent diabetesG A Hitman, N I Jowett, L G Williams, et al.
Clinical Dysmorphology|August 24, 2000
An unknown combination of infantile spasms, retinal lesions, facial dysmorphism and limb abnormalitiesA S Plomp, W Reardon, S Benton, et al.
Journal of Medical Genetics|July 25, 1998
Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotypeA K Ryan, K Bartlett, P Clayton, et al.
Human Genetics|June 21, 2001
Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cMS Rickard, M Parker, W van't Hoff, et al.
Journal of Medical Genetics|February 24, 2001
Homozygous deletion of SHOX in a mentally retarded male with Langer mesomelic dysplasiaS P Robertson, D J Shears, P Oei, et al.
Clinical Genetics|August 18, 1999
Further evidence from two families that craniofrontonasal dysplasia maps to Xp22L J Pulleyn, R M Winter, W Reardon, 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 5qL van Herwerden, C S Rose, W Reardon, et al.
The British Journal of Ophthalmology|May 29, 1998
Optic disc anomalies and frontonasal dysplasiaP Hodgkins, M Lees, J Lawson, et al.
Pageof 22

Showing results (171-180 of 219) with videos related to

Sort By:
Pageof 22
Journal of Medical Genetics|May 19, 2001
Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype?B B De Vries, S J Knight, T Homfray, et al.
Nature Genetics|February 1, 1995
The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardationJ Flint, A O Wilkie, V J Buckle, et al.
Clinical Science (London, England : 1979)|April 1, 1984
Polymorphisms in the 5'-flanking region of the insulin gene and non-insulin-dependent diabetesG A Hitman, N I Jowett, L G Williams, et al.
Clinical Dysmorphology|August 24, 2000
An unknown combination of infantile spasms, retinal lesions, facial dysmorphism and limb abnormalitiesA S Plomp, W Reardon, S Benton, et al.
Journal of Medical Genetics|July 25, 1998
Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotypeA K Ryan, K Bartlett, P Clayton, et al.
Human Genetics|June 21, 2001
Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cMS Rickard, M Parker, W van't Hoff, et al.
Journal of Medical Genetics|February 24, 2001
Homozygous deletion of SHOX in a mentally retarded male with Langer mesomelic dysplasiaS P Robertson, D J Shears, P Oei, et al.
Clinical Genetics|August 18, 1999
Further evidence from two families that craniofrontonasal dysplasia maps to Xp22L J Pulleyn, R M Winter, W Reardon, 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 5qL van Herwerden, C S Rose, W Reardon, et al.
The British Journal of Ophthalmology|May 29, 1998
Optic disc anomalies and frontonasal dysplasiaP Hodgkins, M Lees, J Lawson, et al.
Pageof 22