S. Briuglia
发表
A. Meduri,
E. Ferro,
A. P. Capra,
2018,
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.
S. Gangemi,
S. Gangemi,
M. Cristani,
2002,
Journal of perinatal medicine.
A. Polizzi,
S. Manti,
M. Ruggieri,
2012
.
F. Borgia,
G. Parisi,
S. Manti,
2015,
Allergy and asthma proceedings.
S. Leonardi,
C. Salpietro,
S. Briuglia,
2011,
International journal of immunopathology and pharmacology.
M. Digilio,
B. Dallapiccola,
M. Tartaglia,
2009,
European Journal of Human Genetics.
C. Salpietro,
S. Briuglia,
L. Rigoli,
2004,
Pediatric Research.
S. Mondello,
E. Esposito,
A. P. Capra,
2022,
Genes.
E. Esposito,
A. P. Capra,
S. Briuglia,
2022,
Biomedicines.
G. Muscolino,
S. Gangemi,
D. Trombetta,
2005,
Minerva pediatrica.
L. Bernardini,
A. Novelli,
C. Graziano,
2016,
American journal of medical genetics. Part A.
M. Segni,
A. Polizzi,
S. Savasta,
2012,
Epilepsia.
S. Gangemi,
M. Cristani,
F. Cimino,
2006,
Annals of Hematology.
A. P. Capra,
S. Briuglia,
E. Chiara,
2021,
World journal of hepatology.
M. Digilio,
P. Lapunzina,
M. Tartaglia,
2020,
Human mutation.
B. Dallapiccola,
R. Mingarelli,
C. Salpietro,
2005,
American Journal of Medical Genetics. Part A.
S. Briuglia,
Salpietro,
F. Sancetta,
2012
.
Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC‐based assay
B. Dallapiccola,
V. Guida,
L. Stuppia,
2003,
Human mutation.
R. Merendino,
S. Gangemi,
P. Minciullo,
2003,
Acta Haematologica.
L. Bernardini,
A. Novelli,
V. Salpietro,
2014,
American journal of medical genetics. Part A.
E. Agolini,
A. Novelli,
A. P. Capra,
2020,
Genetics in medicine : official journal of the American College of Medical Genetics.
V. Salpietro,
C. Salpietro,
S. Briuglia,
2014,
Diabetes & metabolism.
E. Zackai,
K. Sullivan,
M. Khokha,
2018,
Front. Immunol..
M. Ruggieri,
S. Briuglia,
T. Arrigo,
2012
.
M. Mangino,
S. Gangemi,
B. Dallapiccola,
2002,
Journal of medical genetics.
S. Mondello,
E. Esposito,
A. P. Capra,
2022,
Biology.
A. Drago,
C. Crisafulli,
S. Briuglia,
2022,
Pharmacogenetics and genomics.
V. Lougaris,
A. Plebani,
V. Salpietro,
2016,
Orphanet Journal of Rare Diseases.
K. Rojnueangnit,
A. Novelli,
N. Jinawath,
2019,
Molecular genetics & genomic medicine.
Rocco Bruno,
C. Salpietro,
S. Briuglia,
2015,
Annals of human genetics.
M. Mangino,
S. Gangemi,
B. Dallapiccola,
2003,
European Journal of Human Genetics.
E. Ferro,
A. P. Capra,
S. Briuglia,
2018,
Pediatric Surgery International.
F. Lombardo,
S. Briuglia,
F. De Luca,
2013,
Journal of pediatric endocrinology & metabolism : JPEM.
S. Bianca,
R. Tenconi,
T. Mazza,
2021,
International journal of molecular sciences.
A. Polizzi,
L. Bernardini,
A. Novelli,
2015,
American journal of medical genetics. Part A.
C. Romano,
S. Bianca,
M. Piccione,
2022,
Genes.
E. Bertini,
F. Brancati,
E. Valente,
2003,
American journal of human genetics.
C. Crisafulli,
A. P. Capra,
S. Briuglia,
2021,
Psychiatry Research.
G. Pajno,
S. La Grutta,
S. Briuglia,
2004,
Allergy.
C. Romano,
C. Baldo,
L. Larizza,
2021,
Genes.
D. Rader,
G. Rubboli,
R. Møller,
2020,
Brain : a journal of neurology.
C. Rinaldi,
A. D'Ascola,
P. Aragona,
2018,
Investigative ophthalmology & visual science.
A. Drago,
C. Crisafulli,
S. Briuglia,
2021,
Genes.
B. Dallapiccola,
S. Briuglia,
L. Rigoli,
2009,
American journal of medical genetics. Part A.
S. Briuglia,
S. Costa,
L. Caminiti,
2019,
BMJ Case Reports.
G. Ciprandi,
S. Leonardi,
C. Cuppari,
2011,
International journal of immunopathology and pharmacology.
C. Crisafulli,
A. P. Capra,
S. Briuglia,
2021,
Journal of Molecular Neuroscience.
S. Julia,
F. Lecoquierre,
R. Abou Jamra,
2022,
European Journal of Human Genetics.
Coexistence of Genetic Diseases Is a New Clinical Challenge: Three Unrelated Cases of Dual Diagnosis
E. Agolini,
A. Novelli,
A. P. Capra,
2023,
Genes.
S. Bianca,
M. Digilio,
F. Brancati,
2021,
Clinical genetics.
C. Salpietro,
S. Briuglia,
M. Merlino,
2003,
European Journal of Pediatrics.
M. Buemi,
V. Cernaro,
C. Salpietro,
2012,
Renal Failure.
B. Dallapiccola,
C. Salpietro,
S. Briuglia,
2003,
American journal of medical genetics. Part A.
B. Dallapiccola,
L. Bernardini,
R. Mingarelli,
2004,
American journal of medical genetics. Part A.
B. Dallapiccola,
S. Briuglia,
M. Valenzise,
2004,
American Journal of Medical Genetics. Part A.
F. Guarneri,
M. Vaccaro,
B. Dallapiccola,
2005,
Journal of the American Academy of Dermatology.
M. Maghnie,
V. Capra,
M. Capasso,
2022,
Genes.
S. Briuglia,
M. Sciveres,
M. Cutrupi,
2015,
European journal of medical genetics.
E. Agolini,
A. Novelli,
S. Briuglia,
2020,
Genetics in Medicine.
A. Polizzi,
M. Ruggieri,
K. Mankad,
2012
.
T. Sanger,
E. Bertini,
M. Koenig,
2008,
Clinical genetics.