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PALKA BAYARD DE VOLO, CHIARA

PALKA BAYARD DE VOLO, CHIARA  

DIPARTIMENTO DI SCIENZE PSICOLOGICHE, DELLA SALUTE E DEL TERRITORIO  

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Risultati 1 - 20 di 33 (tempo di esecuzione: 0.041 secondi).
Titolo Data di pubblicazione Autore(i) File
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
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.
A new case of mosaicism for invdup(15) duplicated for Prader-Willi/Angelman syndrome critical region (PWACR) in an adult healthy man. 2008 GUANCIALI FRANCHI, Paolo Emilio; Calabrese, Giuseppe; Morizio, Elisena; Gatta, Valentina; Palka, Chiara; Stuppia, Liborio; Zuffardi, O.
A new case of pure partial 7q duplication 2012 Alfonsi, M; Palka, Chiara; Morizio, Elisena; Gatta, Valentina; Franchi, S; GUANCIALI FRANCHI, Paolo Emilio; Zori, R; Calabrese, Giuseppe; Palka, Giandomenico; Chiarelli, Francesco
A novel mutation of the IRF6 gene in an Italian family with Van der Woude syndrome 2004 Gatta, V.; Scarciolla, O.; Cupaioli, M.; Palka, C.; Chiesa, P. L.; Stuppia, L.
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
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.
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
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
Comparison of combined, stepwise sequential, contingent, and integrated screening in 7292 high-risk pregnant women 2011 GUANCIALI FRANCHI, Paolo Emilio; Iezzi, I; Palka, Chiara; Matarrelli, B; Morizio, Elisena; Calabrese, Giuseppe; Benn, P.
Cystic hygroma and mid-trimester maternal serum screening. 2007 Celentano, C; Prefumo, F; Iezzi, I; GUANCIALI FRANCHI, Paolo Emilio; PALKA BAYARD DE VOLO, Chiara; Liberati, Marco; Rotmensch, S.
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
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
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
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
I nuovi orizzonti della diagnosi prenatale 2007 Palka, Giandomenico; GUANCIALI FRANCHI, Paolo Emilio; Iezzi, I; Morizio, Elisena; Palka, Chiara; Calabrese, Giuseppe
Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay 2007 Gatta, V.; Antonucci, I.; Morizio, E.; Palka, C.; Fischetto, R.; Mokini, V.; Tumini, S.; Calabrese, G.; Stuppia, L.
Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA). 2005 Gatta, Valentina; Scarciolla, O; Gaspari, Anna Rita; Palka, Chiara; DE ANGELIS, Maria; DI MUZIO, Antonietta; GUANCIALI FRANCHI, Paolo Emilio; Calabrese, Giuseppe; Uncini, Antonino; Stuppia, Liborio
Lack of correlation between elevated maternal serum hCG during second-trimester biochemical screening and fetal congenital anomaly. 2005 Celentano, C; GUANCIALI FRANCHI, Paolo Emilio; Liberati, Marco; Palka, Chiara; Fantasia, Donatella; Morizio, Elisena; Calabrese, Giuseppe; Stuppia, Liborio; Rotmensch, S.
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