Results
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69.
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Expression, candidate gene, and population studies of the melanocortin 5 receptor. [electronic resource] by
- Hatta, N
- Dixon, C
- Ray, A J
- Phillips, S R
- Cunliffe, W J
- Dale, M
- Todd, C
- Meggit, S
- Birch-MacHin, M A
- Rees, J L
Producer: 20010510
In:
The Journal of investigative dermatology vol. 116
Availability: No items available.
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70.
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Mapping of monilethrix to the type II keratin gene cluster at chromosome 12q13 in three new families, including one with variable expressivity. [electronic resource] by
- Birch-Machin, M A
- Healy, E
- Turner, R
- Haldane, F
- Belgaid, C E
- Darlington, S
- Stephenson, A M
- Munro, C
- Messenger, A G
- Rees, J L
Producer: 19971119
In:
The British journal of dermatology vol. 137
Availability: No items available.
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71.
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72.
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73.
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Impaired mitochondrial beta-oxidation in a patient with an abnormality of the respiratory chain. Studies in skeletal muscle mitochondria. [electronic resource] by
- Watmough, N J
- Bindoff, L A
- Birch-Machin, M A
- Jackson, S
- Bartlett, K
- Ragan, C I
- Poulton, J
- Gardiner, R M
- Sherratt, H S
- Turnbull, D M
Producer: 19900214
In:
The Journal of clinical investigation vol. 85
Availability: No items available.
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74.
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A mutational hotspot in the 2B domain of human hair basic keratin 6 (hHb6) in monilethrix patients. [electronic resource] by
- Korge, B P
- Healy, E
- Munro, C S
- Pünter, C
- Birch-Machin, M
- Holmes, S C
- Darlington, S
- Hamm, H
- Messenger, A G
- Rees, J L
- Traupe, H
Producer: 19981118
In:
The Journal of investigative dermatology vol. 111
Availability: No items available.
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75.
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Deficiency of complex II of the mitochondrial respiratory chain in late-onset optic atrophy and ataxia. [electronic resource] by
- Taylor, R W
- Birch-Machin, M A
- Schaefer, J
- Taylor, L
- Shakir, R
- Ackrell, B A
- Cochran, B
- Bindoff, L A
- Jackson, M J
- Griffiths, P
- Turnbull, D M
Producer: 19961212
In:
Annals of neurology vol. 39
Availability: No items available.
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76.
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Evidence for variable selective pressures at MC1R. [electronic resource] by
- Harding, R M
- Healy, E
- Ray, A J
- Ellis, N S
- Flanagan, N
- Todd, C
- Dixon, C
- Sajantila, A
- Jackson, I J
- Birch-Machin, M A
- Rees, J L
Producer: 20000531
In:
American journal of human genetics vol. 66
Availability: No items available.
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77.
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Cytochrome oxidase deficiency: immunological studies of skeletal muscle mitochondrial fractions. [electronic resource] by
- Shepherd, I M
- Birch-Machin, M A
- Johnson, M A
- Sherratt, H S
- Aynsley-Green, A
- Droste, M
- Kadenbach, B
- Stephenson, J B
- King, M D
- Dick, D J
Producer: 19890213
In:
Journal of the neurological sciences vol. 87
Availability: No items available.
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78.
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Melanocortin 1 receptor variants in an Irish population. [electronic resource] by
- Smith, R
- Healy, E
- Siddiqui, S
- Flanagan, N
- Steijlen, P M
- Rosdahl, I
- Jacques, J P
- Rogers, S
- Turner, R
- Jackson, I J
- Birch-Machin, M A
- Rees, J L
Producer: 19980724
In:
The Journal of investigative dermatology vol. 111
Availability: No items available.
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79.
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Fatal lactic acidosis in infancy with a defect of complex III of the respiratory chain. [electronic resource] by
- Birch-Machin, M A
- Shepherd, I M
- Watmough, N J
- Sherratt, H S
- Bartlett, K
- Darley-Usmar, V M
- Milligan, D W
- Welch, R J
- Aynsley-Green, A
- Turnbull, D M
Producer: 19890612
In:
Pediatric research vol. 25
Availability: No items available.
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80.
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Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype. [electronic resource] by
- Korge, B P
- Hamm, H
- Jury, C S
- Traupe, H
- Irvine, A D
- Healy, E
- Birch-MacHin, M
- Rees, J L
- Messenger, A G
- Holmes, S C
- Parry, D A
- Munro, C S
Producer: 19991104
In:
The Journal of investigative dermatology vol. 113
Availability: No items available.
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