Works matching IS 00099163 AND DT 2001 AND VI 59 AND IP 1

Results: 13

Human artificial chromosomes: emerging from concept to reality in biomedicine.
Published in:
Clinical Genetics, 2001, v. 59, n. 1, p. 15
Publication type:
Article
BAC to basics in understanding human Down syndrome.
Published in:
Clinical Genetics, 2001, v. 59, n. 1, p. 14
Publication type:
Article
HotSpots.
Published in:
Clinical Genetics, 2001, v. 59, n. 1, p. 12
By:
- Lewis, M.E.S.;
- Csonka, E.
Publication type:
Article
HotSpots.
Published in:
Clinical Genetics, 2001, v. 59, n. 1, p. 12
By:
- Lewis, M.E.S.
Publication type:
Article
An HphI polymorphism in the E-selectin gene is associated with premature coronary artery disease.
Published in:
Clinical Genetics, 2001, v. 59, n. 1, p. 58, doi. 10.1034/j.1399-0004.2001.590110.x
By:
- Zheng, F.;
- Chevalier, J.A.;
- Zhang, L.Q.;
- Virgil, D.;
- Ye, S.Q.;
- Kwiterovich, P.O.
Publication type:
Article
Two unbalanced translocations involving a common 6p25 region in two XY female patients.
Published in:
Clinical Genetics, 2001, v. 59, n. 1, p. 52, doi. 10.1034/j.1399-0004.2001.590109.x
By:
- Batanian, J.R.;
- Grange, D.K.;
- Fleming, R.;
- Gadre, B.;
- Wetzel, J.
Publication type:
Article
Resolution of a mispaired secondary structure intermediate could account for a novel micro-insertion:deletion (387 insA:del 8 bp) in the PYGM gene causing McArdle's disease.
Published in:
Clinical Genetics, 2001, v. 59, n. 1, p. 48
By:
- Martïn, M.A.;
- Rubio, J.C.;
- Garcia, A.;
- Fern á ndez, M.A.;
- Campos, Y.;
- Krawczak, M.;
- Cooper, D.N.;
- Arenas, J.
Publication type:
Article
Prevalence of CFTR mutations in hypertrypsinaemia detected through neonatal screening for cystic fibrosis.
Published in:
Clinical Genetics, 2001, v. 59, n. 1, p. 42, doi. 10.1034/j.1399-0004.2001.590107.x
By:
- Scotet, V.;
- de Braekeleer, M.;
- Audrezet, M.-P.;
- Lod é, L.;
- Verlingue, C.;
- Qu é r é, I.;
- Mercier, B.;
- Dugu é p é roux, I.;
- Codet, J.-P.;
- Moineau, M.-P.;
- Parent, P.;
- F é rec, C.
Publication type:
Article
The molecular basis of cystic fibrosis in South Africa.
Published in:
Clinical Genetics, 2001, v. 59, n. 1, p. 37, doi. 10.1034/j.1399-0004.2001.590106.x
By:
- Goldman, A.;
- Labrum, R.;
- Claustres, M.;
- Desgeorges, M.;
- Guittard, C.;
- Wallace, A.;
- Ramsay, M.
Publication type:
Article
Split hand:split foot malformation with hearing loss: first report of families linked to the SHFM1 locus in 7q21.
Published in:
Clinical Genetics, 2001, v. 59, n. 1, p. 28, doi. 10.1034/j.1399-0004.2001.590105.x
By:
- Tackels-Horne, D.;
- Toburen, A.;
- Sangiorgi, E.;
- Gurrieri, F.;
- de Mollerat, X.;
- Fischetto, R.;
- Causio, F.;
- Clarkson, K.;
- Stevenson, R.E.;
- Schwartz, C.E.
Publication type:
Article
Grebe syndrome in Vietnamese sisters: not Agent Orange.
Published in:
Clinical Genetics, 2001, v. 59, n. 1, p. 25, doi. 10.1034/j.1399-0004.2001.590104.x
By:
- Lin, A.E.;
- Wheeler, P.G.;
- Smith, R.;
- Chudley, Albert E.
Publication type:
Article
The beta-globin locus control region versus gene therapy vectors: a struggle for expression.
Published in:
Clinical Genetics, 2001, v. 59, n. 1, p. 17, doi. 10.1034/j.1399-0004.2001.590103.x
By:
- Ellis, J.;
- Pannell, D.;
- McInnes, Roderick R.
Publication type:
Article
Human HOX gene mutations.
Published in:
Clinical Genetics, 2001, v. 59, n. 1, p. 1, doi. 10.1034/j.1399-0004.2001.590101.x
By:
- Goodman, F.R.;
- Scambler, P.J.
Publication type:
Article