Works matching IS 00099163 AND DT 2010 AND VI 77 AND IP 5

Results: 15

Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency.
Published in:
Clinical Genetics, 2010, v. 77, n. 5, p. 474, doi. 10.1111/j.1399-0004.2009.01313.x
By:
- Quintana, E.;
- Gort, L.;
- Busquets, C.;
- Navarro-Sastre, A.;
- Lissens, W.;
- Moliner, S.;
- Lluch, M.;
- Vilaseca, M. A.;
- De Meirleir, L.;
- Ribes, A.;
- Briones, P.
Publication type:
Article
Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age–a sibling control study.
Published in:
Clinical Genetics, 2010, v. 77, n. 5, p. 492, doi. 10.1111/j.1399-0004.2009.01324.x
By:
- McGill, J. J.;
- Inwood, A. C.;
- Coman, D. J.;
- Lipke, M. L.;
- de Lore, D.;
- Swiedler, S. J.;
- Hopwood, J. J.
Publication type:
Article
Psychosocial impact of Von Hippel–Lindau disease: levels and sources of distress.
Published in:
Clinical Genetics, 2010, v. 77, n. 5, p. 483, doi. 10.1111/j.1399-0004.2010.01333.x
By:
- Lammens, C. R. M.;
- Bleiker, E. M. A.;
- Verhoef, S.;
- Hes, F. J.;
- Ausems, M. G. E. M.;
- Majoor-Krakauer, D.;
- Sijmons, R. H.;
- van der Luijt, R. B.;
- van den Ouweland, A. M. W.;
- Van Os, Tam;
- Hoogerbrugge, N.;
- García, E. B. Gómez;
- Dommering, C. J.;
- Gundy, C. M.;
- Aaronson, N. K.
Publication type:
Article
Novel exon nucleotide substitution at the splice junction causes a neonatal Marfan syndrome.
Published in:
Clinical Genetics, 2010, v. 77, n. 5, p. 453, doi. 10.1111/j.1399-0004.2009.01337.x
By:
- Chao, S.-C.;
- Chen, J.-S.;
- Tsai, C.-H.;
- Lin, J. Y.-M.;
- Lin, Y.-J.;
- Sun, H. S.
Publication type:
Article
Prenatal diagnosis of Duchenne muscular dystrophy by comparative genomic hybridization.
Published in:
Clinical Genetics, 2010, v. 77, n. 5, p. 503, doi. 10.1111/j.1399-0004.2009.01340.x
By:
- Bovolenta, M.;
- Rimessi, P.;
- Dolcini, B.;
- Ravani, A.;
- Ferlini, A.;
- Gualandi, F.
Publication type:
Article
Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations.
Published in:
Clinical Genetics, 2010, v. 77, n. 5, p. 507, doi. 10.1111/j.1399-0004.2009.01349.x
By:
- Drijvers, J. M.;
- Lefeber, D. J.;
- de Munnik, S. A.;
- Pfundt, R.;
- van de Leeuw, N.;
- Marcelis, C.;
- Thiel, C.;
- Koerner, C.;
- Wevers, R. A.;
- Morava1, E.
Publication type:
Article
Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?
Published in:
Clinical Genetics, 2010, v. 77, n. 5, p. 464, doi. 10.1111/j.1399-0004.2009.01351.x
By:
- Dorfman, R.;
- Nalpathamkalam, T.;
- Taylor, C.;
- Gonska, T.;
- Keenan, K.;
- Yuan, X. W.;
- Corey, M.;
- Tsui, L.-C.;
- Zielenski, J.;
- Durie, P.
Publication type:
Article
A marker associated with increased risk for severe liver disease in cystic fibrosis.
Published in:
Clinical Genetics, 2010, v. 77, n. 5, p. 434, doi. 10.1111/j.1399-0004.2009.01365_1.x
By:
- de Haan, W.
Publication type:
Article
A folate receptor defect that causes treatable neurological disorder in children.
Published in:
Clinical Genetics, 2010, v. 77, n. 5, p. 435, doi. 10.1111/j.1399-0004.2009.01365_2.x
By:
- de Haan, W.
Publication type:
Article
Lipodystrophy and muscular dystrophy caused by PTRF mutations.
Published in:
Clinical Genetics, 2010, v. 77, n. 5, p. 436, doi. 10.1111/j.1399-0004.2009.01365_3.x
By:
- de Haan, W
Publication type:
Article
Pink-creamy whole blood in a 3-month-old infant with a homozygous deletion in the lipoprotein lipase gene.
Published in:
Clinical Genetics, 2010, v. 77, n. 5, p. 430, doi. 10.1111/j.1399-0004.2009.01369.x
By:
- Avis, H. J.;
- Scheffer, H. J.;
- Kastelein, J. J. P.;
- Dallinga-Thie, G. M.;
- Wijburg, F. A.
Publication type:
Article
Clinical and molecular aspects of aniridia.
Published in:
Clinical Genetics, 2010, v. 77, n. 5, p. 409, doi. 10.1111/j.1399-0004.2010.01372.x
By:
- Kokotas, H.;
- Petersen, M. B.
Publication type:
Article
A new classification system for primary lymphatic dysplasias based on phenotype.
Published in:
Clinical Genetics, 2010, v. 77, n. 5, p. 438, doi. 10.1111/j.1399-0004.2010.01394.x
By:
- Connell, F.;
- Brice, G.;
- Jeffery, S.;
- Keeley, V.;
- Mortimer, P.;
- Mansour, S.
Publication type:
Article
Heterozygous 5p13.3-13.2 deletion in a patient with type I Chiari malformation and bilateral Duane retraction syndrome.
Published in:
Clinical Genetics, 2010, v. 77, n. 5, p. 499, doi. 10.1111/j.1399-0004.2010.01411.x
By:
- Bayrakli, F.;
- Bilguvar, K.;
- Ceyhan, D.;
- Ercan-Sencicek, A. G.;
- Cankaya, T.;
- Bayrakli, S.;
- Guney, I.;
- Mane, S. M.;
- State, M. W.;
- Gunel, M.
Publication type:
Article
Genetics professionals' experiences with grief and loss: implications for support and training.
Published in:
Clinical Genetics, 2010, v. 77, n. 5, p. 421, doi. 10.1111/j.1399-0004.2010.01409.x
By:
- Geller, G.;
- Rushton, C. H.;
- Francomano, C.;
- Kolodner, K.;
- Bernhardt, B. A.
Publication type:
Article