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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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16.
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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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17.
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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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