|
🐜
|
Syndromic true hermaphroditism due to an R‐spondin1 (RSPO1) homozygous mutation
13 auth.
Sara Tomaselli,
F. Megiorni,
C. De Bernardo,
A. Felici,
G. Marrocco,
G. Maggiulli,
B. Grammatico,
D. Remotti,
P. Saccucci,
Felipe Valentini,
...
M. C. Mazzilli,
S. Majore,
P. Grammatico
|
7 |
2008 |
7
🐜
|
|
🐜
|
Identification of novel RP2 mutations in a subset of X‐linked retinitis pigmentosa families and prediction of new domains
18 auth.
M. Miano,
F. Testa,
Francesco Filippini,
M. Trujillo,
I. Conte,
Carmela Lanzara,
J. Millán,
C. De Bernardo,
B. Grammatico,
M. Mangino,
...
I. Torrente,
R. Carrozzo,
F. Simonelli,
E. Rinaldi,
V. Ventruto,
M. D'urso,
C. Ayuso,
A. Ciccodicola
|
5 |
2001 |
5
🐜
|
|
🐜
|
A novel missense mutation in SLC40A1 results in resistance to hepcidin and confirms the existence of two ferroportin‐associated iron overload diseases
9 auth.
E. Létocart,
G. Le Gac,
S. Majore,
Chandran Ka,
F. C. Radio,
Isabelle Gourlaouen,
...
C. De Bernardo,
C. Férec,
P. Grammatico
|
5 |
2009 |
5
🐜
|
|
🐜
|
Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases
16 auth.
P. Striano,
M. Malacarne,
S. Cavani,
M. Pierluigi,
R. Rinaldi,
M. L. Cavaliere,
M. Rinaldi,
C. De Bernardo,
A. Coppola,
M. Pintaudi,
...
R. Gaggero,
P. Grammatico,
S. Striano,
B. Dallapiccola,
F. Zara,
F. Faravelli
|
5 |
2006 |
5
🐜
|
|
🐜
|
A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodeling in a female with Danon disease: a case report and literature review.
18 auth.
I. Bottillo,
C. Giordano,
B. Cerbelli,
D. D’Angelantonio,
Martina Lipari,
Taisia Polidori,
S. Majore,
E. Bertini,
A. D’Amico,
D. Giannarelli,
...
C. De Bernardo,
L. Masuelli,
F. Musumeci,
A. Avella,
F. Re,
E. Zachara,
G. d’Amati,
P. Grammatico
|
5 |
2016 |
5
🐜
|
|
🐜
|
Association of hepcidin promoter c.-582 A>G variant and iron overload in thalassemia major
10 auth.
M. Andreani,
F. C. Radio,
M. Testi,
C. De Bernardo,
M. Troiano,
S. Majore,
...
P. Bertucci,
P. Polchi,
R. Rosati,
P. Grammatico
|
5 |
2009 |
5
🐜
|
|
🐜
|
Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy.
13 auth.
I. Bottillo,
D. D’Angelantonio,
V. Caputo,
A. Paiardini,
Martina Lipari,
C. De Bernardo,
D. Giannarelli,
A. Pizzuti,
S. Majore,
M. Castori,
...
E. Zachara,
F. Re,
P. Grammatico
|
5 |
2016 |
5
🐜
|
|
🐜
|
Cytogenetic and molecular characterization of a de novo 4q24qter duplication and correlation to the associated phenotype
7 auth.
R. Rinaldi,
C. De Bernardo,
M. Assumma,
B. Grammatico,
E. Buffone,
M. Poscente,
...
P. Grammatico
|
4 |
2003 |
4
🐜
|
