Results
|
|
61.
|
Rett syndrome: a wide clinical and autonomic picture. [electronic resource] by
- Pini, G
- Bigoni, S
- Congiu, L
- Romanelli, A M
- Scusa, M F
- Di Marco, P
- Benincasa, A
- Morescalchi, P
- Ferlini, A
- Bianchi, F
- Tropea, D
- Zappella, M
Publication details: Orphanet journal of rare diseases Sep 2016
In:
Orphanet journal of rare diseases vol. 11
Availability: No items available.
|
|
|
62.
|
Germline mosaicism in Rett syndrome identified by prenatal diagnosis. [electronic resource] by
- Mari, F
- Caselli, R
- Russo, S
- Cogliati, F
- Ariani, F
- Longo, I
- Bruttini, M
- Meloni, I
- Pescucci, C
- Schurfeld, K
- Toti, P
- Tassini, M
- Larizza, L
- Hayek, G
- Zappella, M
- Renieri, A
Producer: 20050524
In:
Clinical genetics vol. 67
Availability: No items available.
|
|
|
63.
|
Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study. [electronic resource] by
- Philippe, A
- Martinez, M
- Guilloud-Bataille, M
- Gillberg, C
- Råstam, M
- Sponheim, E
- Coleman, M
- Zappella, M
- Aschauer, H
- Van Maldergem, L
- Penet, C
- Feingold, J
- Brice, A
- Leboyer, M
- van Malldergerme, L
Producer: 19990623
In:
Human molecular genetics vol. 8
Availability: No items available.
|
|
|
64.
|
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females. [electronic resource] by
- Vacca, M
- Filippini, F
- Budillon, A
- Rossi, V
- Mercadante, G
- Manzati, E
- Gualandi, F
- Bigoni, S
- Trabanelli, C
- Pini, G
- Calzolari, E
- Ferlini, A
- Meloni, I
- Hayek, G
- Zappella, M
- Renieri, A
- D'Urso, M
- D'Esposito, M
- MacDonald, F
- Kerr, A
- Dhanjal, S
- Hultén, M
Producer: 20010531
In:
Journal of molecular medicine (Berlin, Germany) vol. 78
Availability: No items available.
|
|
|
65.
|
Hereditary xanthinuria type II associated with mental delay, autism, cortical renal cysts, nephrocalcinosis, osteopenia, and hair and teeth defects. [electronic resource] by
- Zannolli, R
- Micheli, V
- Mazzei, M A
- Sacco, P
- Piomboni, P
- Bruni, E
- Miracco, C
- de Santi, M M
- Terrosi Vagnoli, P
- Volterrani, L
- Pellegrini, L
- Livi, W
- Lucani, B
- Gonnelli, S
- Burlina, A B
- Jacomelli, G
- Macucci, F
- Pucci, L
- Fimiani, M
- Swift, J A
- Zappella, M
- Morgese, G
Producer: 20040223
In:
Journal of medical genetics vol. 40
Availability: No items available.
|
|
|
66.
|
18q-syndrome and ectodermal dysplasia syndrome: description of a child and his family. [electronic resource] by
- Zannolli, R
- Pierluigi, M
- Pucci, L
- Lagrasta, N
- Gasparre, O
- Matera, M R
- Di Bartolo, R M
- Mazzei, M A
- Sacco, P
- Miracco, C
- de Santi, M M
- Aitiani, P
- Cavani, S
- Pellegrini, L
- Fimiani, M
- Alessandrini, C
- Galluzzi, P
- Livi, W
- Gonnelli, S
- Terrosi-Vagnoli, P
- Zappella, M
- Morgese, G
Producer: 20030509
In:
American journal of medical genetics. Part A vol. 116A
Availability: No items available.
|
|
|
67.
|
MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region. [electronic resource] by
- Vacca, M
- Filippini, F
- Budillon, A
- Rossi, V
- Della Ragione, F
- De Bonis, M L
- Mercadante, G
- Manzati, E
- Gualandi, F
- Bigoni, S
- Trabanelli, C
- Pini, G
- Calzolari, E
- Ferlini, A
- Meloni, I
- Hayek, G
- Zappella, M
- Renieri, A
- D'Urso, M
- D'Esposito, M
- Macdonald, F
- Kerr, A
- Dhanjal, S
- Hulten, M
Producer: 20020313
In:
Brain & development vol. 23 Suppl 1
Availability: No items available.
|