E-LIB Suche - Ergebnisse für: Gurrieri, F.

1

Genomic characterisation of Escherichia coli isolates co-pr..:

Corbellini, S. ; Scaltriti, E. ; Piccinelli, G....
Journal of Global Antimicrobial Resistance. 28 (2022) - p. 136-139 , 2022

Link: https://doi.org/10.1016/..

2

An autosomal recessiveDNASE1L3-related autoimmune disease w..:

Carbonella, A ; Mancano, G ; Gremese, E...
Lupus. 26 (2016) 7 - p. 768-772 , 2016

Link: https://doi.org/10.1177/..

3

Colchicine trial in PFAPA Syndrome and MEFV-negative patien..:

Kadhim, C ; Maiolini, F ; Cerrito, L...
Pediatric Rheumatology. 13 (2015) S1 - p. , 2015

Link: https://doi.org/10.1186/..

4

PFAPA syndrome as an hereditary autoinflamatory disorder:

Kadhim, C ; Maiolini, F ; Cerrito, L...
Pediatric Rheumatology. 13 (2015) S1 - p. , 2015

Link: https://doi.org/10.1186/..

5

The Simpson–Golabi–Behmel syndrome: A clinical case and a d..:

Gurrieri, F. ; Pomponi, M.G. ; Pietrobono, R....
American Journal of Medical Genetics Part A. 155 (2010) 1 - p. 145-148 , 2010

Link: https://doi.org/10.1002/..

6

Mowat–Wilson syndrome: Facial phenotype changing with age: ..:

Garavelli, L. ; Zollino, M. ; Mainardi, P. Cerruti...
American Journal of Medical Genetics Part A. 149A (2009) 3 - p. 417-426 , 2009

Link: https://doi.org/10.1002/..

7

A novel microdeletion syndrome with loss of the MSH2 locus ..:

Lucci-Cordisco, E ; Zollino, M ; Baglioni, S...
Clinical Genetics. 67 (2004) 2 - p. 178-182 , 2004

Link: https://doi.org/10.1111/..

8

Solitary median maxillary central incisor syndrome: Clinica..:

Garavelli, Livia ; Zanacca, C. ; Caselli, G....
American Journal of Medical Genetics Part A. 127A (2003) 1 - p. 93-95 , 2003

Link: https://doi.org/10.1002/..

9

Split hand/split foot malformation with hearing loss: first..:

Tackels‐Horne, D ; Toburen, A ; Sangiorgi, E...
Clinical Genetics. 59 (2001) 1 - p. 28-36 , 2001

Link: https://doi.org/10.1034/..

10

Pervasive developmental disorder and epilepsy due to matern..:

Gurrieri, F. ; Battaglia, A. ; Torrisi, L....
Neurology. 52 (1999) 8 - p. 1694-1694 , 1999

Link: https://doi.org/10.1212/..

11

Case of apparent Gurrieri syndrome showing molecular findin..:

Battaglia, A. ; Gurrieri, F.
American Journal of Medical Genetics. 82 (1999) 1 - p. 100-100 , 1999

Link: https://doi.org/10.1002/..

12

The inv dup(15) syndrome: A clinically recognizable syndrom..:

Battaglia, A. ; Gurrieri, F. ; Bertini, E....
Neurology. 48 (1997) 4 - p. 1081-1086 , 1997

Link: https://doi.org/10.1212/..

13

FISH characterization of small supernumerary marker chromos..:

Bettio, D. ; Rizzi, N. ; Giardino, D....
American Journal of Medical Genetics. 68 (1997) 1 - p. 99-104 , 1997

Link: https://doi.org/10.1002/..

14

Linkage of a human brain malformation, familial holoprosenc..:

Muenke, M ; Gurrieri, F ; Bay, C...
Proceedings of the National Academy of Sciences. 91 (1994) 17 - p. 8102-8106 , 1994

Link: https://doi.org/10.1073/..

15

New autosomal recessive syndrome of mental retardation, epi..:

Gurrieri, F. ; Sammito, V. ; Bellussi, A..
American Journal of Medical Genetics. 44 (1992) 3 - p. 315-320 , 1992

Link: https://doi.org/10.1002/..