IRIS

Sfoglia per Autore  

Opzioni
Mostrati risultati da 1 a 18 di 18
Titolo Data di pubblicazione Autore(i) File
Delayed Diagnosis of Potocki-Shaffer Syndrome in a Woman with Multiple Exostoses and Mental Retardation 2011 Palka, Chiara; Alfonsi, Melissa; Mohn, Angelika Anna; GUANCIALI FRANCHI, Paolo Emilio; Chiarelli, Francesco; Calabrese, Giuseppe
Array-CGH characterization of a prenatally detected de novo 46,X,der(Y)t(X;Y)(p22.3;q11.2) in a male fetus 2011 Palka, Chiara; Alfonsi, Melissa; Morizio, Elisena; Soranno, Alessandra; LA ROVERE, Daniela; Matarrelli, B; Rullo, Al; Zori, R; Chiarelli, Francesco; Calabrese, Giuseppe
Mosaic 7q31 deletion involving FOXP2 gene associated with language impairment. 2012 Palka, Chiara; Alfonsi, Melissa; Mohn, Angelika Anna; Cerbo, R; GUANCIALI FRANCHI, Paolo Emilio; Fantasia, Daniela; Morizio, Elisena; Stuppia, Liborio; Calabrese, Giuseppe; Zori, R; Chiarelli, Francesco; Palka, Giandomenico
Array-CGH characterization of a de novo t(X;Y)(p22;q11) in a female with short stature and mental retardation. 2012 Palka Bayard de Volo, C; DE MARCO, Stefania; Chiavaroli, Valentina; Alfonsi, Melissa; Calabrese, Giuseppe; Chiarelli, Francesco; Mohn, Angelika Anna
De novo 9q33 microdeletion identified by array-comparative genomic hybridization in a foetus with sex reversal and congenital heart defects. 2013 Alfonsi, Melissa; Palka, Chiara; Morizio, Elisena; Gatta, Valentina; Antonucci, Ivana; Ruggeri, G; Chiarelli, Francesco; Stuppia, Liborio; Palka, Giandomenico; Calabrese, Giuseppe
Human second trimester amniotic fluid cells are able to create embryoid body-like structures in vitro and to show typical expression profiles of embryonic and primordial germ cells 2014 Antonucci, Ivana; DI PIETRO, Roberta; Alfonsi, M; Centurione, Ma; Centurione, Lucia; Sancilio, Silvia; D'Amico, MARIA ANGELA; DI BALDASSARRE, Angela; Piattelli, Adriano; Tetè, S; Palka, Giandomenico; Stuppia, Liborio
Deletion 18p11.32p11.31 in a Child with Global Developmental Delay and Atypical, Drug-Resistant Absence Seizures 2015 Verrotti, Alberto; Palka, Chiara; Prezioso, Giovanni; Alfonsi, Melissa; Calabrese, Giuseppe; Palka, Giandomenico; Chiarelli, Francesco
16p13.3 microduplication syndrome: A new characteristic case without intellectual disability 2016 Palka, Chiara; Alfonsi, Melissa; Morizio, Elisena; Guanciali-Franchi, Paolo; Mohn, Angelika; Chiarelli, Francesco; Palka, Giandomenico; Calabrese, Giuseppe
Aneuploidy screening using circulating fetal cells in maternal blood by dual-probe FISH protocol: A prospective feasibility study on a series of 172 pregnant women 2016 Calabrese, G.; Fantasia, D.; Alfonsi, M.; Morizio, E.; Celentano, C.; Guanciali Franchi, P.; Sabbatinelli, G.; Palka, C.; Benn, P.; Sitar, G.
Aneuploidy screening using circulating fetal cells in maternal blood by dual-probe FISH protocol: a prospective feasibility study on a series of 172 pregnant women 2016 Calabrese, G; Fantasia, D; Alfonsi, M; Morizio, E; Celentano, C; Franchi, Pg; Palka, G; Benn, P; Sitar, G
Sequential combined test, second trimester maternal serum markers, and circulating fetal cells to select women for invasive prenatal diagnosis 2017 Franchi, Paolo Guanciali; Palka, Chiara; Morizio, Elisena; Sabbatinelli, Giulia; Alfonsi, Melissa; Fantasia, Donatella; Sitar, Giammaria; Benn, Peter; Calabrese, Giuseppe
An 11.4-Mb Interstitial Deletion in a Fetus with No Apparent Phenotypic Alterations 2017 Guanciali-Franchi, Paolo; Celentano, Claudio; Alfonsi, Melissa; Palka, Chiara; Di Pasqua, Giulietta; Matarrelli, Barbara; Palka, Giandomenico
Discovering a familial Xp11.4 microduplication: Does the mother matter? 2018 PALKA BAYARD DE VOLO, Chiara; DE MARCO, Stefania; Alfonsi, Melissa; Matricardi, Sara; Errichiello, Edoardo; Morizio, Elisena; GUANCIALI FRANCHI, Paolo Emilio; Calabrese, Giuseppe; Mohn, Angelika Anna; Chiarelli, Francesco
Case report of newborn with de novo partial trisomy 2q31.2–37.3 and monosomy 9p24.3 2018 Colangelo, Maurizia; Alfonsi, Melissa; Palka, Chiara; Zio, Eleonora Di; Renzo, Silvana Di; Guanciali-Franchi, Paolo; Palka, Giandomenico
Non-invasive prenatal screening: a 20-year experience in Italy 2019 PALKA BAYARD DE VOLO, Chiara; GUANCIALI FRANCHI, Paolo Emilio; Morizio, Elisena; Alfonsi, Melissa; Papponetti, Marco; Sabbatinelli, Giulia; Palka, Giandomenico; Calabrese, Giuseppe; Peter, Benn
Yq Microdeletion in a Patient with VACTERL Association and Shawl Scrotum with Bifid Scrotum: A Real Pathogenetic Association or a Coincidence? 2019 Tumini, Stefano; Alfonsi, Melissa; Carinci, Silvia; Morizio, Elisena; Antonucci, Ivana; Gatta, Valentina; Lisi, Gabriele; Lelli Chiesa, Pierluigi; Calabrese, Giuseppe; Stuppia, Liborio; Palka, Chiara
A 343 Italian cohort of patients analysed with array-comparative genomic hybridization: unsolved problems and genetic counselling difficulties 2021 Palka Bayard de Volo, C.; Alfonsi, M.; Morizio, E.; Guaciali-Franchi, P.; Mohn, A.; Chiarelli, F.
Isolation and enrichment of circulating fetal cells for nipd: An overview 2021 Sabbatinelli, G.; Fantasia, D.; Palka, C.; Morizio, E.; Alfonsi, M.; Calabrese, G.
Mostrati risultati da 1 a 18 di 18
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