Sfoglia per Autore
Mostrati risultati da 1 a 5 di 5
Identification of rare alleles in an Italian population of 284 patients with 21- hydroxylase deficiency by complete sequencing of the CYP21 gene
2005 L. Baldazzi; M. Barbaro; A. Balsamo ;S. Menabò; L. Barp;N. Greggio; L. Iughetti; L. Garavelli; G. Cangemi; A. Antelli; A. Cicognani
Three new mutations in androgen receptor gene identified in patients with 46,XY SDS: Complications for genetic counselling
2008 Nicoletti A.; Baldazzi L.; Menabò S.; Gennari M.; Cangemi G.; Maccaferri M.; Cicognani A.
HESX1 gene analysis in a population of 45 patients with posterior pituitari ectopia (PPE) and GH deficiency (GHD): two novel mutations associated with a mild phenotype.
2010 Baldazzi L.; Zucchini S.; Menabò S.; Nicoletti A.; Baronio F.; Cangemi G; Pirazzoli P.; Cicognani A.
Study of the NR5A1 gene in a cohort of Italian patients with 46,XY Disorders of Sex Development (DSD) without adrenal insufficiency: identification of 7 novel mutations.
2011 Baldazzi L.; Balsamo A.; Nicoletti A.; Menabò S.; Rinaldini D.; Cangemi G.; Balsamo C.; Pirazzoli P.; Cicognani A.
Determination of BMP15 gene dosage in a woman with TS and spontaneous menarche.
2012 Nicoletti A; Mazzanti L.; Menabò S.; Scarano E.; Tamburrino F.; Cangemi G.; Pirazzoli P.; Baldazzi L
Titolo | Autore(i) | Anno | Periodico | Editore | Tipo | File |
---|---|---|---|---|---|---|
Identification of rare alleles in an Italian population of 284 patients with 21- hydroxylase deficiency by complete sequencing of the CYP21 gene |
L. Baldazzi; M. Barbaro; A. Balsamo ;S. Menabò; L. Barp;N. Greggio; L. Iughetti; L. Garavelli; G.... Cangemi; A. Antelli; A. Cicognani |
2005-01-01 | HORMONE RESEARCH | - | 4.02 Riassunto (Abstract) | - |
Three new mutations in androgen receptor gene identified in patients with 46,XY SDS: Complications for genetic counselling | Nicoletti A.; Baldazzi L.; Menabò S.; Gennari M.; Cangemi G.; Maccaferri M.; Cicognani A. | 2008-01-01 | HORMONE RESEARCH | - | 4.02 Riassunto (Abstract) | - |
HESX1 gene analysis in a population of 45 patients with posterior pituitari ectopia (PPE) and GH deficiency (GHD): two novel mutations associated with a mild phenotype. | Baldazzi L.; Zucchini S.; Menabò S.; Nicoletti A.; Baronio F.; Cangemi G; Pirazzoli P.; Cicognani A. | 2010-01-01 | HORMONE RESEARCH IN PAEDIATRICS | - | 4.02 Riassunto (Abstract) | - |
Study of the NR5A1 gene in a cohort of Italian patients with 46,XY Disorders of Sex Development (DSD) without adrenal insufficiency: identification of 7 novel mutations. | Baldazzi L.; Balsamo A.; Nicoletti A.; Menabò S.; Rinaldini D.; Cangemi G.; Balsamo C.; Pirazzoli... P.; Cicognani A. | 2011-01-01 | HORMONE RESEARCH IN PAEDIATRICS | - | 4.02 Riassunto (Abstract) | - |
Determination of BMP15 gene dosage in a woman with TS and spontaneous menarche. | Nicoletti A; Mazzanti L.; Menabò S.; Scarano E.; Tamburrino F.; Cangemi G.; Pirazzoli P.; Baldazzi L | 2012-01-01 | HORMONE RESEARCH IN PAEDIATRICS | - | 1.06 Abstract in rivista | - |
Mostrati risultati da 1 a 5 di 5
Legenda icone
- file ad accesso aperto
- file disponibili sulla rete interna
- file disponibili agli utenti autorizzati
- file disponibili solo agli amministratori
- file sotto embargo
- nessun file disponibile