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1 . Academic Journal
Recurrent prenatal PIEZO1-related lymphatic dysplasia: Expanding molecular and ultrasound findings
저자
by
Mastromoro, Gioia
;
Guadagnolo, Daniele
;
Giancotti, Antonella
;
Di Gregorio, Maria Grazia
;
Marchionni, Enrica
, et al.
소스
In
European Journal of Medical Genetics
January 2021 64(1)
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7 . Academic Journal
Obstetrical and perinatal outcomes in fetuses with early versus late sonographic diagnosis of short femur length: A single-center, prospective, cohort study
저자
by
D’Ambrosio, Valentina
;
Vena, Flaminia
;
Boccherini, Chiara
;
Di Mascio, Daniele
;
Squarcella, Antonia
, et al.
소스
In
European Journal of Obstetrics & Gynecology and Reproductive Biology
November 2020 254:170-174
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7 . Academic Journal
Small 7p22.3 microdeletion: Case report of Snx8 haploinsufficiency and neurological findings
저자
by
Mastromoro, Gioia
;
Capalbo, Anna
;
Guido, Cristiana Alessia
;
Torres, Barbara
;
Fabbretti, Maria
, et al.
소스
In
European Journal of Medical Genetics
April 2020 63(4)
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7 . Periodical
Prenatal Genome-Wide Sequencing analysis (Exome or Genome) in detecting pathogenic Single Nucleotide Variants in fetal Central Nervous System Anomalies: systematic review and meta-analysis
저자
by
Marchionni, Enrica
;
Guadagnolo, Daniele
;
Mastromoro, Gioia
;
Pizzuti, Antonio
.
소스
European Journal of Human Genetics: EJHG; 20240101, Issue: Preprints p1-11, 11p
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6 . Academic Journal
Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region.
저자
by
Guadagnolo, Daniele
;
Mastromoro, Gioia
;
Torres, Barbara
;
Marchionni, Enrica
;
di Palma, Francesca
, et al.
소스
Genes
. Dec2023, Vol. 14 Issue 12, p2157. 8p.
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7 .
“Neurodevelopmental outcome of a child with UPD(16)mat: A case report”
저자
by
Novelli, Maria
;
Mammarella, Valeria
;
Calandriello, Francesca
;
Temofonte, Sara
;
Goldoni, Marina
, et al.
소스
In
Global Pediatrics
September 2024 9
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7 . Academic Journal
Additional lesions identified by genomic microarrays are associated with an inferior outcome in low‐risk chronic lymphocytic leukaemia patients.
저자
by
Rigolin, Gian Matteo
;
Traversa, Alice
;
Caputo, Viviana
;
Del Giudice, Ilaria
;
Bardi, Antonella
, et al.
소스
British Journal of Haematology
. Sep2023, Vol. 202 Issue 5, p953-959. 7p.
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7 . Academic Journal
Hyperechogenic fetal bowel: Current evidence‐based prenatal diagnosis and management.
저자
by
Vena, Flaminia
;
Mazza, Alessandra
;
Bartolone, Martina
;
Vasta, Adele
;
D'Alberti, Elena
, et al.
소스
Journal of Clinical Ultrasound; Sep2023, Vol. 51 Issue 7, p1172-1178, 7p
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7 . Academic Journal
Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer Susceptibility.
저자
by
Guadagnolo, Daniele
;
Mastromoro, Gioia
;
Marchionni, Enrica
;
Germani, Aldo
;
Libi, Fabio
, et al.
소스
Biomedicines; Jul2023, Vol. 11 Issue 7, p2062, 6p
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7 .
The role of genetic testing in suspected fulminant myocarditis: A case report
저자
by
Mistrulli, Raffaella
;
Micolonghi, Caterina
;
Follesa, Federico
;
Fabiani, Marco
;
Pagannone, Erika
, et al.
소스
In
Molecular Genetics and Metabolism Reports
December 2023 37
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