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Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.
Published in:
Human Genetics, 2007, v. 121, n. 6, p. 685, doi. 10.1007/s00439-007-0362-y
By:
- van Reeuwijk, Jeroen;
- Grewal, Prabhjit K.;
- Salih, Mustafa A. M.;
- de Bernabé, Daniel Beltrán-Valero;
- McLaughlan, Jenny M.;
- Michielse, Caroline B.;
- Herrmann, Ralf;
- Ewitt, Jane E.;
- Steinbrecher, Alice;
- Seidahmed, Mohamed Z.;
- Shaheed, Mohamed M.;
- Abomelha, Abdullah;
- Brunner, Han G.;
- van Bokhoven, Hans;
- Voit, Thomas
Publication type:
Article
Determination of urinary S-sulphocysteine, xanthine and hypoxanthine by liquid chromatography-electrospray tandem mass spectrometry.
Published in:
Biomedical Chromatography, 2005, v. 19, n. 3, p. 223, doi. 10.1002/bmc.439
By:
- Rashed, Mohamed S.;
- Saadallah, Amal A. A.;
- Rahbeeni, Zuhair;
- Eyaid, Wafaa;
- Seidahmed, Mohamed Z.;
- Al-Shahwan, Saad;
- Salih, Mustafa A. M.;
- Osman, Mohammad E.;
- Al-Amoudi, Mohamed;
- Al-Ahaidib, Lujane;
- Jacob, Minnie
Publication type:
Article
Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.
Published in:
Human Mutation, 2008, v. 29, n. 11, p. E231, doi. 10.1002/humu.20844
By:
- Chiara Manzini, M.;
- Gleason, Danielle;
- Chang, Bernard S.;
- Sean Hill, R.;
- Barry, Brenda J.;
- Partlow, Jennifer N.;
- Poduri, Annapurna;
- Currier, Sophie;
- Galvin-Parton, Patricia;
- Shapiro, Lawrence R.;
- Schmidt, Karen;
- Davis, Jessica G.;
- Basel-Vanagaite, Lina;
- Seidahmed, Mohamed Z.;
- Salih, Mustafa A. M.;
- Dobyns, William B.;
- Walsh, Christopher A.
Publication type:
Article

Found: 3

Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.

Determination of urinary S-sulphocysteine, xanthine and hypoxanthine by liquid chromatography-electrospray tandem mass spectrometry.

Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.