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1 . Academic Journal
Genome-wide non-invasive prenatal testing in single- and multiple-pregnancies at any risk: Identification of maternal polymorphisms to reduce the number of unnecessary invasive confirmation testing
저자
by
Oneda, Beatrice
;
Sirleto, Pietro
;
Baldinger, Rosa
;
Taralczak, Malgorzata
;
Joset, Pascal
, et al.
소스
In
European Journal of Obstetrics & Gynecology and Reproductive Biology
September 2020 252:19-29
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7 . Academic Journal
Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders.
저자
by
Boonsawat, Paranchai
;
Horn, Anselm H. C.
;
Steindl, Katharina
;
Baumer, Alessandra
;
Joset, Pascal
, et al.
소스
NPJ Genomic Medicine; 7/29/2022, Vol. 7 Issue 1, p1-12, 12p
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7 . Academic Journal
Two novel cases of trilateral retinoblastoma: genetics and review of the literature
저자
by
D’Elia, Gemma
;
Grotta, Simona
;
Del Bufalo, Francesca
;
De Ioris, Maria Antonietta
;
Surace, Cecilia
, et al.
소스
In
Cancer Genetics
November 2013 206(11):398-401
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7 . Academic Journal
Sometimes it is better to wait: First Italian case of a newborn with transient abnormal myelopoiesis and a favorable prognosis.
저자
by
SALVATORI, GUGLIELMO
;
FOLIGNO, SILVIA
;
SIRLETO, PIETRO
;
GENOVESE, SILVIA
;
RUSSO, SERENA
, et al.
소스
Oncology Letters
. Jan2017, Vol. 13 Issue 1, p191-195. 5p.
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7 . Academic Journal
Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.
저자
by
Diociaiuti, Andrea
;
Hachem, May El
;
Pisaneschi, Elisa
;
Giancristoforo, Simona
;
Genovese, Silvia
, et al.
소스
Orphanet Journal of Rare Diseases
. 1/13/2016, Vol. 11, p1-12. 12p. 2 Color Photographs, 8 Charts.
Open Access (BioMed Central)
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7 . Academic Journal
Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma.
저자
by
Grotta, Simona
;
D'Elia, Gemma
;
Scavelli, Rossana
;
Genovese, Silvia
;
Surace, Cecilia
, et al.
소스
BMC Cancer
. 11/4/2015, Vol. 15, p1-9. 9p. 5 Charts, 1 Graph.
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7 . Academic Journal
Comprehensive characterization of mesenchymal stromal cells from patients with Fanconi anaemia
저자
by
Mantelli, Melissa
;
Avanzini, Maria Antonia
;
Rosti, Vittorio
;
Ingo, Daniela M.
;
Conforti, Antonella
, et al.
소스
British Journal of Haematology
. Sep 01, 2015 170(6):826-836
Full Text (Wiley)
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7 . Academic Journal
Borderline cognitive level in a family with Bazex-Dupré-Christol syndrome
저자
by
Gonfiantini, Michaela Veronika
;
Armando, Marco
;
Pucciarini, Maria Laura
;
Macchiaiolo, Marina
;
Buonuomo, Paola Sabrina
, et al.
소스
American Journal Of Medical Genetics - A
. Jul 01, 2015 167(7):1637-1643
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7 . Academic Journal
Hypoplastic Left Heart Syndrome and 21q22.3 Deletion
저자
by
Ciocca, Laura
;
Digilio, Cristina M.
;
Lombardo, Antonietta
;
DʼElia, Gemma
;
Baban, Anwar
, et al.
소스
American Journal Of Medical Genetics - A
. Mar 01, 2015 167(3):579-586
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7 . Academic Journal
Identification of TBX5 Mutations in a Series of 94 Patients With Tetralogy of Fallot
저자
by
Baban, Anwar
;
Postma, Alex Vincent
;
Marini, Monica
;
Trocchio, Gianluca
;
Santilli, Antonella
, et al.
소스
American Journal Of Medical Genetics - A
. Dec 01, 2014 164(12):3100-3107
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