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1761.
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1762.
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1763.
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Dermatological manifestations of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP): a case series of 28 patients. [electronic resource] by
- Chasseuil, E
- McGrath, J A
- Seo, A
- Balguerie, X
- Bodak, N
- Chasseuil, H
- Denis-Musquer, M
- Goldenberg, A
- Goussot, R
- Irvine, A D
- Khumalo, N P
- King, M C
- Küry, S
- Lipsker, D
- Mallet, S
- Mayosi, B M
- Nanda, A
- Puzenat, E
- Salort-Campana, E
- Sidbury, R
- Shimamura, A
- Bézieau, S
- Mercier, S
- Barbarot, S
Producer: 20201014
In:
The British journal of dermatology vol. 181
Availability: No items available.
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1764.
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1766.
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1767.
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1768.
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1769.
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1770.
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1771.
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1772.
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1773.
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Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations. [electronic resource] by
- Ravenscroft, Gianina
- Thompson, Elizabeth M
- Todd, Emily J
- Yau, Kyle S
- Kresoje, Nina
- Sivadorai, Padma
- Friend, Kathryn
- Riley, Kate
- Manton, Nicholas D
- Blumbergs, Peter
- Fietz, Michael
- Duff, Rachael M
- Davis, Mark R
- Allcock, Richard J
- Laing, Nigel G
Producer: 20130905
In:
Neuromuscular disorders : NMD vol. 23
Availability: No items available.
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1774.
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1775.
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1777.
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1778.
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1779.
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Merosin-deficient congenital muscular dystrophy in Korea. [electronic resource] by
- Chae, Jong-Hee
- Lee, Jin Sook
- Hwang, Hee
- Kim, Ki Joong
- Hwang, Yong Seung
- Park, June Dong
- Cheon, Jung-Eun
- Kim, In-One
- Choe, Ghee Young
- Park, Sung Hye
Producer: 20090709
In:
Brain & development vol. 31
Availability: No items available.
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1780.
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