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

Results: 15

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

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

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

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

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

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

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

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

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