Del Giudice E - Search Results

1

Megalocornea and mental retardation syndrome: two new cases.

Del Giudice E, Sartorio R, Romano A, Carrozzo R, Andria G. Del Giudice E, et al. Am J Med Genet. 1987 Feb;26(2):417-20. doi: 10.1002/ajmg.1320260220. Am J Med Genet. 1987. PMID: 3812592

2

Sanfilippo B syndrome (MPS III B): mild and severe forms within the same sibship.

Andria G, Di Natale P, Del Giudice E, Strisciuglio P, Murino P. Andria G, et al. Among authors: del giudice e. Clin Genet. 1979 Jun;15(6):500-4. doi: 10.1111/j.1399-0004.1979.tb00832.x. Clin Genet. 1979. PMID: 157237

3

Mild Wolf-Hirschhorn phenotype and partial GH deficiency in a patient with a 4p terminal deletion.

Titomanlio L, Romano A, Conti A, Genesio R, Salerno M, De Brasi D, Nitsch L, Del Giudice E. Titomanlio L, et al. Among authors: del giudice e. Am J Med Genet A. 2004 Jun 1;127A(2):197-200. doi: 10.1002/ajmg.a.20667. Am J Med Genet A. 2004. PMID: 15108211

4

Familial white matter hypoplasia, agenesis of the corpus callosum, mental retardation and growth deficiency: a new distinctive syndrome.

Curatolo P, Cilio MR, Del Giudice E, Romano A, Gaggero R, Pessagno A. Curatolo P, et al. Among authors: del giudice e. Neuropediatrics. 1993 Apr;24(2):77-82. doi: 10.1055/s-2008-1071518. Neuropediatrics. 1993. PMID: 8327066

5

A further contribution to the delineation of the 17q21.31 microdeletion syndrome: central nervous involvement in two Italian patients.

Terrone G, D'Amico A, Imperati F, Carella M, Palumbo O, Gentile M, Canani RB, Melis D, Romano A, Parente I, Riccitelli M, Del Giudice E. Terrone G, et al. Among authors: del giudice e. Eur J Med Genet. 2012 Aug-Sep;55(8-9):466-71. doi: 10.1016/j.ejmg.2012.04.010. Epub 2012 May 29. Eur J Med Genet. 2012. PMID: 22659270

6

Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22.

Melis D, Genesio R, Cappuccio G, MariaGinocchio V, Casa RD, Menna G, Buffardi S, Poggi V, Leszle A, Imperati F, Carella M, Izzo A, Del Giudice E, Nitsch L, Andria G. Melis D, et al. Among authors: del giudice e. Am J Med Genet A. 2011 Jul;155A(7):1697-705. doi: 10.1002/ajmg.a.33976. Epub 2011 Jun 10. Am J Med Genet A. 2011. PMID: 21671372

7

Atypical expression of beta-galactosidase deficiency in a child with Hurler-like features but without neurological abnormalities.

Andria G, Del Giudice E, Reuser AJ. Andria G, et al. Among authors: del giudice e. Clin Genet. 1978 Jul;14(1):16-23. doi: 10.1111/j.1399-0004.1978.tb02055.x. Clin Genet. 1978. PMID: 98248

8

Short duration outpatient video electroencephalographic monitoring: the experience of a southern-Italian general pediatric department.

Del Giudice E, Crisanti AF, Romano A. Del Giudice E, et al. Epileptic Disord. 2002 Sep;4(3):197-202. Epileptic Disord. 2002. PMID: 12446222 Free article.

9

An emerging phenotype of proximal 11q deletions.

Melis D, Genesio R, Cozzolino M, Del Giudice E, Mormile A, Imperati F, Ronga V, Della Casa R, Nitsch L, Andria G. Melis D, et al. Among authors: del giudice e. Eur J Med Genet. 2010 Sep-Oct;53(5):340-3. doi: 10.1016/j.ejmg.2010.07.010. Epub 2010 Aug 3. Eur J Med Genet. 2010. PMID: 20688202

10

Cerebellar vermis aplasia: patient report and exclusion of the candidate genes EN2 and ZIC1.

Titomanlio L, Pierri NB, Romano A, Imperati F, Borrelli M, Barletta V, Diano AA, Castaldo I, Santoro L, Del Giudice E. Titomanlio L, et al. Among authors: del giudice e. Am J Med Genet A. 2005 Jul 15;136(2):198-200. doi: 10.1002/ajmg.a.30795. Am J Med Genet A. 2005. PMID: 15940696

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