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Biallelic mutations in DYNC2LI1 are a rare cause of Ellis‐van Creveld syndrome.
Published in:
Clinical Genetics, 2018, v. 93, n. 3, p. 632, doi. 10.1111/cge.13128
By:
- Niceta, M.;
- Margiotti, K.;
- Digilio, M. C.;
- Guida, V.;
- Bruselles, A.;
- Pizzi, S.;
- Ferraris, A.;
- Memo, L.;
- Laforgia, N.;
- Dentici, M. L.;
- Consoli, F.;
- Torrente, I.;
- Ruiz‐perez, V. L.;
- Dallapiccola, B.;
- Marino, B.;
- De Luca, A.;
- Tartaglia, M.
Publication type:
Article
Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation.
Published in:
Clinical Genetics, 2007, v. 72, n. 2, p. 98, doi. 10.1111/j.1399-0004.2007.00832.x
By:
- Selicorni, A.;
- Russo, S.;
- Gervasini, C.;
- Castronovo, P.;
- Milani, D.;
- Cavalleri, F.;
- Bentivegna, A.;
- Masciadri, M.;
- Domi, A.;
- Divizia, M. T.;
- Sforzini, C.;
- Tarantino, E.;
- Memo, L.;
- Scarano, G.;
- Larizza, L.
Publication type:
Article
Cardiac rhabdomyoma as a marker for the prenatal detection of tuberous sclerosis. Case report.
Published in:
BJOG: An International Journal of Obstetrics & Gynaecology, 1990, v. 97, n. 12, p. 1154, doi. 10.1111/j.1471-0528.1990.tb02507.x
By:
- GAVA, G.;
- BUOSO, G.;
- BELTRAME, G. L.;
- MEMO, L.;
- VISENTIN, S.;
- CAVARZERANI, A.
Publication type:
Article
Bovine lactoferrin supplementation for prevention of late-onset sepsis in very low-birth-weight neonates: a randomized trial.
Published in:
2009
By:
- Manzoni P;
- Rinaldi M;
- Cattani S;
- Pugni L;
- Romeo MG;
- Messner H;
- Stolfi I;
- Decembrino L;
- Laforgia N;
- Vagnarelli F;
- Memo L;
- Bordignon L;
- Saia OS;
- Maule M;
- Gallo E;
- Mostert M;
- Magnani C;
- Quercia M;
- Bollani L;
- Pedicino R
Publication type:
journal article
A survey of Italian and Spanish neonatologists and paediatricians regarding awareness of the diagnosis of FAS and FASD and maternal ethanol use during pregnancy.
Published in:
BMC Pediatrics, 2011, v. 11, n. 1, p. 51, doi. 10.1186/1471-2431-11-51
By:
- Vagnarelli, F.;
- Palmi, I.;
- García-Algar, O.;
- Falcon, M.;
- Memo, L.;
- Tarani, L.;
- Spoletini, R.;
- Pacifici, R.;
- Mortali, C.;
- Pierantozzi, A.;
- Pichini, S.
Publication type:
Article

Found: 5

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis‐van Creveld syndrome.

Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation.

Cardiac rhabdomyoma as a marker for the prenatal detection of tuberous sclerosis. Case report.

Bovine lactoferrin supplementation for prevention of late-onset sepsis in very low-birth-weight neonates: a randomized trial.

A survey of Italian and Spanish neonatologists and paediatricians regarding awareness of the diagnosis of FAS and FASD and maternal ethanol use during pregnancy.