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Cardiometabolic phenotypes and mitochondrial DNA copy number in two cohorts of UK women. [electronic resource] by
- Guyatt, Anna L
- Burrows, Kimberley
- Guthrie, Philip A I
- Ring, Sue
- McArdle, Wendy
- Day, Ian N M
- Ascione, Raimondo
- Lawlor, Debbie A
- Gaunt, Tom R
- Rodriguez, Santiago
Producer: 20181212
In:
Mitochondrion vol. 39
Availability: No items available.
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9.
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From a single whole exome read to notions of clinical screening: primary ciliary dyskinesia and RSPH9 p.Lys268del in the Arabian Peninsula. [electronic resource] by
- Alsaadi, Muslim M
- Gaunt, Tom R
- Boustred, Christopher R
- Guthrie, Philip A I
- Liu, Xuan
- Lenzi, Luca
- Rainbow, Lucille
- Hall, Neil
- Alharbi, Khalid K
- Day, Ian N M
Producer: 20120629
In:
Annals of human genetics vol. 76
Availability: No items available.
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10.
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Nonsense mutation in coiled-coil domain containing 151 gene (CCDC151) causes primary ciliary dyskinesia. [electronic resource] by
- Alsaadi, Muslim M
- Erzurumluoglu, A Mesut
- Rodriguez, Santiago
- Guthrie, Philip A I
- Gaunt, Tom R
- Omar, Hager Z
- Mubarak, Mohammad
- Alharbi, Khalid K
- Al-Rikabi, Ammar C
- Day, Ian N M
Producer: 20150708
In:
Human mutation vol. 35
Availability: No items available.
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11.
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Proxy molecular diagnosis from whole-exome sequencing reveals Papillon-Lefevre syndrome caused by a missense mutation in CTSC. [electronic resource] by
- Erzurumluoglu, A Mesut
- Alsaadi, Muslim M
- Rodriguez, Santiago
- Alotaibi, Tahani S
- Guthrie, Philip A I
- Lewis, Sian
- Ginwalla, Aasiya
- Gaunt, Tom R
- Alharbi, Khalid K
- Alsaif, Fahad M
- Alsaadi, Basma M
- Day, Ian N M
Producer: 20160222
In:
PloS one vol. 10
Availability: No items available.
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12.
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A genome-wide association study of mitochondrial DNA copy number in two population-based cohorts. [electronic resource] by
- Guyatt, Anna L
- Brennan, Rebecca R
- Burrows, Kimberley
- Guthrie, Philip A I
- Ascione, Raimondo
- Ring, Susan M
- Gaunt, Tom R
- Pyle, Angela
- Cordell, Heather J
- Lawlor, Debbie A
- Chinnery, Patrick F
- Hudson, Gavin
- Rodriguez, Santiago
Producer: 20190730
In:
Human genomics vol. 13
Availability: No items available.
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13.
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Very low PSA concentrations and deletions of the KLK3 gene. [electronic resource] by
- Rodriguez, Santiago
- Al-Ghamdi, Osama A
- Burrows, Kimberley
- Guthrie, Philip A I
- Lane, J Athene
- Davis, Michael
- Marsden, Gemma
- Alharbi, Khalid K
- Cox, Angela
- Hamdy, Freddie C
- Neal, David E
- Donovan, Jenny L
- Day, Ian N M
Producer: 20130429
In:
Clinical chemistry vol. 59
Availability: No items available.
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