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Polymerase chain reaction detection of Bartonella henselae bacteraemia in an immunocompetent child with cat-scratch disease.
Published in:
2000
By:
- Del Prete, Raffaele;
- Fumarola, Donato;
- Ungari, Sandro;
- Fumarola, Luciana;
- Miragliotta, Giuseppe;
- Del Prete, R;
- Fumarola, D;
- Ungari, S;
- Fumarola, L;
- Miragliotta, G
Publication type:
journal article
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.
Published in:
Clinical Genetics, 2017, v. 92, n. 4, p. 415, doi. 10.1111/cge.13009
By:
- Di Gregorio, E.;
- Riberi, E.;
- Belligni, E.F.;
- Biamino, E.;
- Spielmann, M.;
- Ala, U.;
- Calcia, A.;
- Bagnasco, I.;
- Carli, D.;
- Gai, G.;
- Giordano, M.;
- Guala, A.;
- Keller, R.;
- Mandrile, G.;
- Arduino, C.;
- Maffè, A.;
- Naretto, V.G.;
- Sirchia, F.;
- Sorasio, L.;
- Ungari, S.
Publication type:
Article
Identification of two novel splice-site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype.
Published in:
Clinical Genetics, 2014, v. 85, n. 2, p. 201, doi. 10.1111/cge.12115
By:
- Cappuccio, G.;
- Ginocchio, V.M.;
- Maffè, A.;
- Ungari, S.;
- Andria, G.;
- Melis, D.
Publication type:
Article
Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations.
Published in:
Clinical Genetics, 2011, v. 79, n. 4, p. 345, doi. 10.1111/j.1399-0004.2010.01480.x
By:
- Maffé, A.;
- Toschi, B.;
- Circo, G.;
- Giachino, D.;
- Giglio, S.;
- Rizzo, A.;
- Carloni, A.;
- Poletti, V.;
- Tomassetti, S.;
- Ginardi, C.;
- Ungari, S.;
- Genuardi, M.
Publication type:
Article

Found: 4

Polymerase chain reaction detection of Bartonella henselae bacteraemia in an immunocompetent child with cat-scratch disease.

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.

Identification of two novel splice-site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype.

Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations.