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1 . Academic Journal
Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes
저자
by
Irene Ambrosetti
;
Laura Bernardini
;
Marzia Pollazzon
;
Maria Grazia Giuffrida
;
Valentina Guida
, et al.
소스
Genes, Vol 14, Iss 8, p 1526 (2023)
Open Access (DOAJ)
Scopus
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7 . Academic Journal
3′UTR Deletion of NONO Leads to Corpus Callosum Anomaly, Left Ventricular Non-Compaction and Ebstein’s Anomaly in a Male Fetus
저자
by
Maria Grazia Giuffrida
;
Marina Goldoni
;
Maria Luce Genovesi
;
Giovanna Carpentieri
;
Barbara Torres
, et al.
소스
Diagnostics, Vol 12, Iss 10, p 2354 (2022)
Open Access (DOAJ)
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7 . Academic Journal
Chromosomal Microarray Analysis in Fetuses Detected with Isolated Cardiovascular Malformation: A Multicenter Study, Systematic Review of the Literature and Meta-Analysis
저자
by
Gioia Mastromoro
;
Nader Khaleghi Hashemian
;
Daniele Guadagnolo
;
Maria Grazia Giuffrida
;
Barbara Torres
, et al.
소스
Diagnostics, Vol 12, Iss 1328, p 1328 (2022)
Open Access (DOAJ)
Scopus
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7 . Academic Journal
Il Mediterraneo allargato e la Cina come 'offshore balancer' - The Wider Mediterranean and China as an 'Offshore Balancer'
저자
by
Andrea Ghiselli
;
Maria Grazia Giuffrida
.
소스
OrizzonteCina, Vol 11, Iss 2 (2020)
Open Access (DOAJ)
Find it @ DONGA
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4 .
2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature review
저자
by
Malek Bouassida
;
Matthieu Egloff
;
Jonathan Levy
;
Nicolas Chatron
;
Laura Bernardini
, et al.
소스
European Journal of Human Genetics
.
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7 .
Copy number variation analysis implicates novel pathways in patients with oculo‐auriculo‐vertebral‐spectrum and congenital heart defects
저자
by
Maria Teresa Fadda
;
Sebastiano Bianca
;
Dario Cocciadiferro
;
Bruno Dallapiccola
;
Marina Goldoni
, et al.
소스
Clinical Genetics
. 100:268-279
Web of Science
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7 .
Critical prenatal diagnosis and management of incidental exon 43-44 deletion in the dystrophin gene
저자
by
Gioia Mastromoro
;
Daniele Guadagnolo
;
Enrica Marchionni
;
Antonella Giancotti
;
Maria Grazia Giuffrida
, et al.
소스
European journal of obstetrics, gynecology, and reproductive biology
. 272
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7 .
A novel complex genomic rearrangement affecting the KCNJ2 regulatory region causes a variant of Cooks syndrome
저자
by
Elena Manara
;
Luigia Cinque
;
Orazio Palumbo
;
Matteo Bertelli
;
Lucia Micale
, et al.
소스
Open Access (OpenAIRE)
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7 .
China as an Offshore Balancer in the Middle East and North Africa
저자
by
Andrea Ghiselli
;
Maria Grazia Giuffrida
.
소스
The RUSI Journal
. 165:10-20
Scopus
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4 .
12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including
SYT1
and
PPP1R12A
저자
by
Frédéric Bilan
;
Antonio Pizzuti
;
Madeleine Joubert
;
Claire Beneteau
;
Brigitte Gilbert-Dussardier
, et al.
소스
American Journal of Medical Genetics Part A
. 182:2133-2138
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