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A novel de novo ACTA1 variant in a patient with nemaline myopathy and mitochondrial Complex I deficiency. [electronic resource] by
- Pula, Shpresa
- Urankar, Kathryn
- Norman, Andrew
- Pierre, Germaine
- Langton-Hewer, Simon
- Selby, Victoria
- Mason, Faye
- Vijayakumar, Kayal
- McFarland, Robert
- Taylor, Robert W
- Majumdar, Anirban
Producer: 20210104
In:
Neuromuscular disorders : NMD vol. 30
Availability: No items available.
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13.
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A public health emergency among young people. [electronic resource] by
- Bush, Andy
- Bhatt, Jayesh M
- Connett, Gary J
- Doull, Iolo
- Gilchrist, Francis J
- Grigg, Jonathan
- Langton Hewer, Simon C
- Legg, Julian
- Lenney, Warren
- Sinha, Ian P
Producer: 20200930
In:
The Lancet. Respiratory medicine vol. 8
Availability: No items available.
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14.
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Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings. [electronic resource] by
- Tooley, Madeleine
- Lynch, Danielle
- Bernier, Francois
- Parboosingh, Jillian
- Bhoj, Elizabeth
- Zackai, Elaine
- Calder, Alistair
- Itasaki, Nobue
- Wakeling, Emma
- Scott, Richard
- Lees, Melissa
- Clayton-Smith, Jill
- Blyth, Moira
- Morton, Jenny
- Shears, Debbie
- Kini, Usha
- Homfray, Tessa
- Clarke, Angus
- Barnicoat, Angela
- Wallis, Colin
- Hewitson, Rebecca
- Offiah, Amaka
- Saunders, Michael
- Langton-Hewer, Simon
- Hilliard, Tom
- Davis, Peter
- Smithson, Sarah
Producer: 20170104
In:
American journal of medical genetics. Part A vol. 170A
Availability: No items available.
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