-
1
-
-
84872894722
-
Molecular heterogeneity of blistering disorders: the paradigm of epidermolysis bullosa
-
Bruckner-Tuderman, L., Has, C., Molecular heterogeneity of blistering disorders: the paradigm of epidermolysis bullosa. J Invest Dermatol 132 (2012), E2–E5.
-
(2012)
J Invest Dermatol
, vol.132
, pp. E2-E5
-
-
Bruckner-Tuderman, L.1
Has, C.2
-
2
-
-
84863393747
-
Genetics and epigenetics of the skin meet deep sequence
-
Cheng, J.B., Cho, R.J., Genetics and epigenetics of the skin meet deep sequence. J Invest Dermatol 132 (2012), 923–932.
-
(2012)
J Invest Dermatol
, vol.132
, pp. 923-932
-
-
Cheng, J.B.1
Cho, R.J.2
-
3
-
-
78649494153
-
Rethinking the prosaicism of mosaicism; is it in us?
-
Cho, R.J., Rethinking the prosaicism of mosaicism; is it in us?. Exp Dermatol 19 (2010), 1037–1039.
-
(2010)
Exp Dermatol
, vol.19
, pp. 1037-1039
-
-
Cho, R.J.1
-
4
-
-
0021368017
-
KF-1 monoclonal antibody defines a specific basement membrane antigen defect in dystrophic forms of epidermolysis bullosa
-
Fine, J.D., Breathnach, S.M., Hintner, H., et al. KF-1 monoclonal antibody defines a specific basement membrane antigen defect in dystrophic forms of epidermolysis bullosa. J Invest Dermatol 82 (1984), 35–38.
-
(1984)
J Invest Dermatol
, vol.82
, pp. 35-38
-
-
Fine, J.D.1
Breathnach, S.M.2
Hintner, H.3
-
5
-
-
0019460693
-
Immunofluorescence mapping of antigenic determinants within the dermal-epidermal junction in the mechanobullous diseases
-
Hintner, H., Stingl, G., Schuler, G., et al. Immunofluorescence mapping of antigenic determinants within the dermal-epidermal junction in the mechanobullous diseases. J Invest Dermatol 76 (1981), 113–118.
-
(1981)
J Invest Dermatol
, vol.76
, pp. 113-118
-
-
Hintner, H.1
Stingl, G.2
Schuler, G.3
-
6
-
-
0016861075
-
Mass screening for sickle cell hemoglobin is there an optimal method?
-
Nalbandian, R.M., Camp, F.R., Henry, R.L., et al. Mass screening for sickle cell hemoglobin is there an optimal method?. JAMA 234 (1975), 832–835.
-
(1975)
JAMA
, vol.234
, pp. 832-835
-
-
Nalbandian, R.M.1
Camp, F.R.2
Henry, R.L.3
-
7
-
-
70249111091
-
Targeted capture and massively parallel sequencing of 12 human exomes
-
Ng, S.B., Turner, E.H., Robertson, P.D., et al. Targeted capture and massively parallel sequencing of 12 human exomes. Nature 46 (2009), 272–276.
-
(2009)
Nature
, vol.46
, pp. 272-276
-
-
Ng, S.B.1
Turner, E.H.2
Robertson, P.D.3
-
8
-
-
77952700774
-
Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009
-
Oji, V., Tadini, G., Akiyama, M., et al. Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. J Am Acad Dermatol 63 (2010), 607–641.
-
(2010)
J Am Acad Dermatol
, vol.63
, pp. 607-641
-
-
Oji, V.1
Tadini, G.2
Akiyama, M.3
-
9
-
-
0000010578
-
Studies on the pathogenesis of epidermolysis bullosa
-
Pearson, R.W., Studies on the pathogenesis of epidermolysis bullosa. J Invest Dermatol 39 (1962), 551–575.
-
(1962)
J Invest Dermatol
, vol.39
, pp. 551-575
-
-
Pearson, R.W.1
-
10
-
-
58249138817
-
Generations of sequencing technologies
-
Pettersson, E., Lundeberg, J., Ahmadian, A., Generations of sequencing technologies. Genomics 93 (2009), 105–111.
-
(2009)
Genomics
, vol.93
, pp. 105-111
-
-
Pettersson, E.1
Lundeberg, J.2
Ahmadian, A.3
-
11
-
-
78049300625
-
A universal carrier test for the long tail of Mendelian disease
-
Srinivasan, B.S., Evans, E.A., Flannick, J., et al. A universal carrier test for the long tail of Mendelian disease. Reprod Biomed Online 21 (2010), 537–551.
-
(2010)
Reprod Biomed Online
, vol.21
, pp. 537-551
-
-
Srinivasan, B.S.1
Evans, E.A.2
Flannick, J.3
-
12
-
-
84879690707
-
Molecular therapeutics for heritable skin diseases
-
Uitto, J., Molecular therapeutics for heritable skin diseases. J Invest Dermatol 132 (2012), E29–E34.
-
(2012)
J Invest Dermatol
, vol.132
, pp. E29-E34
-
-
Uitto, J.1
-
13
-
-
33747044146
-
Epidermolysis bullosa
-
Varki, R., Sadowski, S., Pfendner, E., et al. Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants. J Med Genet 43 (2006), 641–652.
-
(2006)
I. Molecular genetics of the junctional and hemidesmosomal variants. J Med Genet
, vol.43
, pp. 641-652
-
-
Varki, R.1
Sadowski, S.2
Pfendner, E.3
-
14
-
-
34147095984
-
Epidermolysis bullosa
-
Varki, R., Sadowski, S., Uitto, J., et al. Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes. J Med Genet 44 (2007), 181–192.
-
(2007)
II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes. J Med Genet
, vol.44
, pp. 181-192
-
-
Varki, R.1
Sadowski, S.2
Uitto, J.3
-
15
-
-
0038497542
-
Molecular structure of nucleic acids; a structure for deoxyribose nucleic acid
-
Watson, J.D., Crick, F.H., Molecular structure of nucleic acids; a structure for deoxyribose nucleic acid. Nature 171 (1953), 737–738.
-
(1953)
Nature
, vol.171
, pp. 737-738
-
-
Watson, J.D.1
Crick, F.H.2
-
16
-
-
84883049449
-
Next-generation diagnostics for genodermatoses
-
Cho, R.J., Simpson, M.A., McGrath, J.A., Next-generation diagnostics for genodermatoses. J Invest Dermatol 132 (2012), E27–E28.
-
(2012)
J Invest Dermatol
, vol.132
, pp. E27-E28
-
-
Cho, R.J.1
Simpson, M.A.2
McGrath, J.A.3
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