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Nederlands Tijdschrift Voor Geneeskunde
|
September 9, 2000
[Pachyonychia congenita type 2 due to mutation in the keratin 6b gene]
G G Toth, H Van Goor, W H McLean, et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology
|
March 4, 1998
Novel compound heterozygous mutations in the plectin gene in epidermolysis bullosa with muscular dystrophy and the use of protein truncation test for detection of premature termination codon mutations
M Dang, L Pulkkinen, F J Smith, et al.
The British Journal of Dermatology
|
May 8, 1999
Epidermolytic palmoplantar keratoderma due to a novel type of keratin mutation, a 3-bp insertion in the keratin 9 helix termination motif
C M Coleman, C S Munro, F J Smith, et al.
Biochemical Society Transactions
|
April 1, 1990
Localization of a human fibroblast extracellular protein in cells and tissues by monoclonal antibody
W H McLean, J C Orchin, H Foster, et al.
The British Journal of Dermatology
|
May 22, 2001
Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16
J B Connors, A K Rahil, F J Smith, et al.
Human Molecular Genetics
|
May 1, 1997
Homozygous alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia
L Pulkkinen, V E Kimonis, Y Xu, et al.
Prenatal Diagnosis
|
October 16, 1999
Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1
F J Smith, V A McKusick, K Nielsen, et al.
Clinical and Experimental Dermatology
|
February 13, 2001
A novel mutation in the 2B domain of keratin 2e causing ichthyosis bullosa of Siemens
A D Irvine, F J Smith, K W Shum, et al.
American Journal of Ophthalmology
|
December 28, 1999
A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophy
C M Coleman, S Hannush, S P Covello, et al.
Experimental Eye Research
|
January 25, 2000
Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene
L D Corden, O Swensson, B Swensson, et al.
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Showing results (21-30 of 76) with videos related to
Sort By:
Page
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Nederlands Tijdschrift Voor Geneeskunde
|
September 9, 2000
[Pachyonychia congenita type 2 due to mutation in the keratin 6b gene]
G G Toth, H Van Goor, W H McLean, et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology
|
March 4, 1998
Novel compound heterozygous mutations in the plectin gene in epidermolysis bullosa with muscular dystrophy and the use of protein truncation test for detection of premature termination codon mutations
M Dang, L Pulkkinen, F J Smith, et al.
The British Journal of Dermatology
|
May 8, 1999
Epidermolytic palmoplantar keratoderma due to a novel type of keratin mutation, a 3-bp insertion in the keratin 9 helix termination motif
C M Coleman, C S Munro, F J Smith, et al.
Biochemical Society Transactions
|
April 1, 1990
Localization of a human fibroblast extracellular protein in cells and tissues by monoclonal antibody
W H McLean, J C Orchin, H Foster, et al.
The British Journal of Dermatology
|
May 22, 2001
Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16
J B Connors, A K Rahil, F J Smith, et al.
Human Molecular Genetics
|
May 1, 1997
Homozygous alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia
L Pulkkinen, V E Kimonis, Y Xu, et al.
Prenatal Diagnosis
|
October 16, 1999
Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1
F J Smith, V A McKusick, K Nielsen, et al.
Clinical and Experimental Dermatology
|
February 13, 2001
A novel mutation in the 2B domain of keratin 2e causing ichthyosis bullosa of Siemens
A D Irvine, F J Smith, K W Shum, et al.
American Journal of Ophthalmology
|
December 28, 1999
A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophy
C M Coleman, S Hannush, S P Covello, et al.
Experimental Eye Research
|
January 25, 2000
Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene
L D Corden, O Swensson, B Swensson, et al.
Page
of 8