Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Conti, Emanuela"'
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2005 Dec 15; Vol. 139 (3), pp. 236-8.
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.
Autor:
De Luca A; CSS Hospital, IRCCS, San Giovanni Rotondo and CSS-Mendel Institute, Rome, Italy., Bottillo I, Sarkozy A, Carta C, Neri C, Bellacchio E, Schirinzi A, Conti E, Zampino G, Battaglia A, Majore S, Rinaldi MM, Carella M, Marino B, Pizzuti A, Digilio MC, Tartaglia M, Dallapiccola B
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2005 Dec; Vol. 77 (6), pp. 1092-101. Date of Electronic Publication: 2005 Oct 26.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2005 Jul 01; Vol. 136 (1), pp. 93-4.
Autor:
Digilio MC; Medical Genetics, Bambino Gesù Hospital, Rome, Italy. digilio@opbg.net, Marino B, Capolino R, Angioni A, Sarkozy A, Roberti MC, Conti E, de Zorzi A, Dallapiccola B
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2005 Apr 15; Vol. 134A (2), pp. 158-64.
Autor:
Sarkozy A; CSS Hospital, IRCCS, San Giovanni Rotondo, Italy; CSS-Mendel Institute, Rome, Italy., Conti E, D'Agostino R, Digilio MC, Formigari R, Picchio F, Marino B, Pizzuti A, Dallapiccola B
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2005 Feb 15; Vol. 133A (1), pp. 68-70.
Autor:
Sarkozy A; CSS Hospital, IRCCS, San Giovanni Rotondo and CSS-Mendel Institute, Rome, Italy., Obregon MG, Conti E, Esposito G, Mingarelli R, Pizzuti A, Dallapiccola B
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2004 Dec; Vol. 12 (12), pp. 1069-72.
Autor:
Sinibaldi L; IRCCS-C.S.S. San Giovanni Rotondo, 00198 Rome, Italy., De Luca A, Bellacchio E, Conti E, Pasini A, Paloscia C, Spalletta G, Caltagirone C, Pizzuti A, Dallapiccola B
Publikováno v:
Human mutation [Hum Mutat] 2004 Dec; Vol. 24 (6), pp. 534-5.
Autor:
Yagubyan M; Division of Vascular Surgery, Mayo Clinic and Mayo Foundation, Rochester, MN 55905, USA., Panneton JM, Lindor NM, Conti E, Sarkozy A, Pizzuti A
Publikováno v:
Journal of vascular surgery [J Vasc Surg] 2004 Apr; Vol. 39 (4), pp. 897-900.
Autor:
Digilio MC; Medical Genetics, Bambino Gesù Hospital, Rome, Italy. digilio@opbg.net, Pacileo G, Sarkozy A, Limongelli G, Conti E, Cerrato F, Marino B, Pizzuti A, Calabrò R, Dallapiccola B
Publikováno v:
Birth defects research. Part A, Clinical and molecular teratology [Birth Defects Res A Clin Mol Teratol] 2004 Feb; Vol. 70 (2), pp. 95-8.
Autor:
Pizzuti A; Dipartimento di Medicina Sperimentale e Patologia, Università di Roma La Sapienza, Rome, Italy. a.pizzuti@css-mendel.it, Sarkozy A, Newton AL, Conti E, Flex E, Digilio MC, Amati F, Gianni D, Tandoi C, Marino B, Crossley M, Dallapiccola B
Publikováno v:
Human mutation [Hum Mutat] 2003 Nov; Vol. 22 (5), pp. 372-7.