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Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma. [electronic resource] by
- Whittock, Neil V
- Smith, Frances J
- Wan, Hong
- Mallipeddi, Rajeev
- Griffiths, W Andrew
- Dopping-Hepenstal, Patricia
- Ashton, Gabrielle H
- Eady, Robin A
- McLean, W H Irwin
- McGrath, John A
Producer: 20020613
In:
The Journal of investigative dermatology vol. 118
Availability: No items available.
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13.
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A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8). [electronic resource] by
- Morgan, Neil V
- Pasha, Shanaz
- Johnson, Colin A
- Ainsworth, John R
- Eady, Robin A J
- Dawood, Ban
- McKeown, Carole
- Trembath, Richard C
- Wilde, Jonathan
- Watson, Steve P
- Maher, Eamonn R
Producer: 20060530
In:
American journal of human genetics vol. 78
Availability: No items available.
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14.
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Lack of plakophilin 1 increases keratinocyte migration and reduces desmosome stability. [electronic resource] by
- South, Andrew P
- Wan, Hong
- Stone, Michael G
- Dopping-Hepenstal, Patricia J C
- Purkis, Patricia E
- Marshall, John F
- Leigh, Irene M
- Eady, Robin A J
- Hart, Ian R
- McGrath, John A
Producer: 20040519
In:
Journal of cell science vol. 116
Availability: No items available.
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15.
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Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome. [electronic resource] by
- Whittock, Neil V
- Wan, Hong
- Morley, Susan M
- Garzon, Maria C
- Kristal, Leonard
- Hyde, Patrice
- McLean, W H Irwin
- Pulkkinen, Leena
- Uitto, Juoni
- Christiano, Angela M
- Eady, Robin A J
- McGrath, John A
Producer: 20020327
In:
The Journal of investigative dermatology vol. 118
Availability: No items available.
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16.
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Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome. [electronic resource] by
- Ashton, Gabrielle H S
- McLean, W H Irwin
- South, Andrew P
- Oyama, Noritaka
- Smith, Frances J D
- Al-Suwaid, Raouf
- Al-Ismaily, Abla
- Atherton, David J
- Harwood, Catherine A
- Leigh, Irene M
- Moss, Celia
- Didona, Biagio
- Zambruno, Giovanna
- Patrizi, Annalisa
- Eady, Robin A J
- McGrath, John A
Producer: 20040304
In:
The Journal of investigative dermatology vol. 122
Availability: No items available.
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17.
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The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. [electronic resource] by
- Fine, Jo-David
- Eady, Robin A J
- Bauer, Eugene A
- Bauer, Johann W
- Bruckner-Tuderman, Leena
- Heagerty, Adrian
- Hintner, Helmut
- Hovnanian, Alain
- Jonkman, Marcel F
- Leigh, Irene
- McGrath, John A
- Mellerio, Jemima E
- Murrell, Dedee F
- Shimizu, Hiroshi
- Uitto, Jouni
- Vahlquist, Anders
- Woodley, David
- Zambruno, Giovanna
Producer: 20080724
In:
Journal of the American Academy of Dermatology vol. 58
Availability: No items available.
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18.
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Tn-MUC1 DC Vaccination of Rhesus Macaques and a Phase I/II Trial in Patients with Nonmetastatic Castrate-Resistant Prostate Cancer. [electronic resource] by
- Scheid, Elizabeth
- Major, Pierre
- Bergeron, Alain
- Finn, Olivera J
- Salter, Russell D
- Eady, Robin
- Yassine-Diab, Bader
- Favre, David
- Peretz, Yoav
- Landry, Claire
- Hotte, Sebastien
- Mukherjee, Som D
- Dekaban, Gregory A
- Fink, Corby
- Foster, Paula J
- Gaudet, Jeffery
- Gariepy, Jean
- Sekaly, Rafick-Pierre
- Lacombe, Louis
- Fradet, Yves
- Foley, Ronan
Producer: 20180116
In:
Cancer immunology research vol. 4
Availability: No items available.
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19.
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Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. [electronic resource] by
- Fine, Jo-David
- Bruckner-Tuderman, Leena
- Eady, Robin A J
- Bauer, Eugene A
- Bauer, Johann W
- Has, Cristina
- Heagerty, Adrian
- Hintner, Helmut
- Hovnanian, Alain
- Jonkman, Marcel F
- Leigh, Irene
- Marinkovich, M Peter
- Martinez, Anna E
- McGrath, John A
- Mellerio, Jemima E
- Moss, Celia
- Murrell, Dedee F
- Shimizu, Hiroshi
- Uitto, Jouni
- Woodley, David
- Zambruno, Giovanna
Producer: 20140630
In:
Journal of the American Academy of Dermatology vol. 70
Availability: No items available.
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20.
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Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). [electronic resource] by
- Hamada, Takahiro
- McLean, W H Irwin
- Ramsay, Michele
- Ashton, Gabrielle H S
- Nanda, Arti
- Jenkins, Trefor
- Edelstein, Isobel
- South, Andrew P
- Bleck, Oliver
- Wessagowit, Vesarat
- Mallipeddi, Rajeev
- Orchard, Guy E
- Wan, Hong
- Dopping-Hepenstal, Patricia J C
- Mellerio, Jemima E
- Whittock, Neil V
- Munro, Colin S
- van Steensel, Maurice A M
- Steijlen, Peter M
- Ni, Jian
- Zhang, Lurong
- Hashimoto, Takashi
- Eady, Robin A J
- McGrath, John A
Producer: 20020911
In:
Human molecular genetics vol. 11
Availability: No items available.
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