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The American Journal of Pathology
|
June 1, 1996
Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition
J A McGrath, B Gatalica, K Li, et al.
The Journal of Investigative Dermatology
|
August 1, 1997
Recurrent mutations in the type VII collagen gene (COL7A1) in patients with recessive dystrophic epidermolysis bullosa
J E Mellerio, M G Dunnill, W Allison, et al.
Clinical and Experimental Dermatology
|
June 3, 1999
Recurrent molecular abnormalities in type VII collagen in Southern Italian patients with recessive dystrophic epidermolysis bullosa
G H Ashton, J E Mellerio, M G Dunnill, et al.
Journal of Medical Genetics
|
September 1, 1995
Use of type VII collagen gene (COL7A1) markers in prenatal diagnosis of recessive dystrophic epidermolysis bullosa
M G Dunnill, C H Rodeck, A J Richards, et al.
Prenatal Diagnosis
|
July 1, 1995
Genetic basis of lethal junctional epidermolysis bullosa in an affected fetus: implications for prenatal diagnosis in one family
J A McGrath, J R McMillan, M G Dunnill, et al.
The British Journal of Dermatology
|
May 1, 1997
A recurrent laminin 5 mutation in British patients with lethal (Herlitz) junctional epidermolysis bullosa: evidence for a mutational hotspot rather than propagation of an ancestral allele
G H Ashton, J E Mellerio, M G Dunnill, et al.
Human Molecular Genetics
|
May 1, 1995
A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa
S Kivirikko, J A McGrath, C Baudoin, et al.
Journal of Medical Genetics
|
October 1, 1994
Genetic linkage to the type VII collagen gene (COL7A1) in 26 families with generalised recessive dystrophic epidermolysis bullosa and anchoring fibril abnormalities
M G Dunnill, A J Richards, G Milana, et al.
The British Journal of Dermatology
|
April 1, 1996
First trimester DNA-based exclusion of recessive dystrophic epidermolysis bullosa from chorionic villus sampling
J A McGrath, M G Dunnill, A M Christiano, et al.
American Journal of Human Genetics
|
July 27, 1999
The gene for hypotrichosis of Marie Unna maps between D8S258 and D8S298: exclusion of the hr gene by cDNA and genomic sequencing
M van Steensel, F J Smith, P M Steijlen, et al.
Page
of 2
Search research articles
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Showing results (11-20 of 20) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 20 results.
The American Journal of Pathology
|
June 1, 1996
Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition
J A McGrath, B Gatalica, K Li, et al.
The Journal of Investigative Dermatology
|
August 1, 1997
Recurrent mutations in the type VII collagen gene (COL7A1) in patients with recessive dystrophic epidermolysis bullosa
J E Mellerio, M G Dunnill, W Allison, et al.
Clinical and Experimental Dermatology
|
June 3, 1999
Recurrent molecular abnormalities in type VII collagen in Southern Italian patients with recessive dystrophic epidermolysis bullosa
G H Ashton, J E Mellerio, M G Dunnill, et al.
Journal of Medical Genetics
|
September 1, 1995
Use of type VII collagen gene (COL7A1) markers in prenatal diagnosis of recessive dystrophic epidermolysis bullosa
M G Dunnill, C H Rodeck, A J Richards, et al.
Prenatal Diagnosis
|
July 1, 1995
Genetic basis of lethal junctional epidermolysis bullosa in an affected fetus: implications for prenatal diagnosis in one family
J A McGrath, J R McMillan, M G Dunnill, et al.
The British Journal of Dermatology
|
May 1, 1997
A recurrent laminin 5 mutation in British patients with lethal (Herlitz) junctional epidermolysis bullosa: evidence for a mutational hotspot rather than propagation of an ancestral allele
G H Ashton, J E Mellerio, M G Dunnill, et al.
Human Molecular Genetics
|
May 1, 1995
A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa
S Kivirikko, J A McGrath, C Baudoin, et al.
Journal of Medical Genetics
|
October 1, 1994
Genetic linkage to the type VII collagen gene (COL7A1) in 26 families with generalised recessive dystrophic epidermolysis bullosa and anchoring fibril abnormalities
M G Dunnill, A J Richards, G Milana, et al.
The British Journal of Dermatology
|
April 1, 1996
First trimester DNA-based exclusion of recessive dystrophic epidermolysis bullosa from chorionic villus sampling
J A McGrath, M G Dunnill, A M Christiano, et al.
American Journal of Human Genetics
|
July 27, 1999
The gene for hypotrichosis of Marie Unna maps between D8S258 and D8S298: exclusion of the hr gene by cDNA and genomic sequencing
M van Steensel, F J Smith, P M Steijlen, et al.
Page
of 2