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1 . Academic Journal
Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature.
저자
by
Trevisan, Valentina
;
Meroni, Anna
;
Leoni, Chiara
;
Sirchia, Fabio
;
Politano, Davide
, et al.
소스
Genes
. Mar2024, Vol. 15 Issue 3, p346. 22p.
Web of Science
Scopus
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7 . Academic Journal
Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4
저자
by
Bedeschi, Maria Francesca
;
Marangi, Giuseppe
;
Calvello, Maria Rosaria
;
Ricciardi, Stefania
;
Leone, Francesca Pia Chiara
, et al.
소스
In
European Journal of Medical Genetics
November 2017 60(11):565-571
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7 . Academic Journal
Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability.
저자
by
Pasquetti, Domizia
;
Gazzellone, Annalisa
;
Rossi, Salvatore
;
Orteschi, Daniela
;
L'Erario, Federica Francesca
, et al.
소스
International Journal of Molecular Sciences
. Jan2024, Vol. 25 Issue 1, p495. 7p.
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7 . Academic Journal
Pathogenic variants in SOX11 mimicking Pitt‐Hopkins syndrome phenotype.
저자
by
Pasquetti, Domizia
;
L'Erario, Federica Francesca
;
Marangi, Giuseppe
;
Panfili, Arianna
;
Chiurazzi, Pietro
, et al.
소스
Clinical Genetics
. Jan2024, Vol. 105 Issue 1, p81-86. 6p.
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7 . Academic Journal
Variable expressivity of a familial 1.9 Mb microdeletion in 3q28 leading to haploinsufficiency of TP63: Refinement of the critical region for a new microdeletion phenotype
저자
by
Ponzi, Emanuela
;
Asaro, Alessia
;
Orteschi, Daniela
;
Genuardi, Maurizio
;
Zollino, Marcella
, et al.
소스
In
European Journal of Medical Genetics
August 2015 58(8):400-405
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7 . Academic Journal
Investigating the "Fetal Side" in Recurrent Pregnancy Loss: Reliability of Cell-Free DNA Testing in Detecting Chromosomal Abnormalities of Miscarriage Tissue.
저자
by
D'Ippolito, Silvia
;
Longo, Giuliana
;
Orteschi, Daniela
;
Busnelli, Andrea
;
Di Simone, Nicoletta
, et al.
소스
Journal of Clinical Medicine
. Jun2023, Vol. 12 Issue 12, p3898. 11p.
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7 . Academic Journal
Acute erythroid leukemia with TP53 mutation and BCR/ABL1: challenges in classification and management
저자
by
Marra, John Donald
;
Frioni, Filippo
;
Minnella, Gessica
;
Rossi, Monica
;
Malara, Tanja
, et al.
소스
Annals of Hematology
. 103(3):1013-1014
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7 . Academic Journal
Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8.
저자
by
Pasquetti, Domizia
;
Marangi, Giuseppe
;
Orteschi, Daniela
;
Carapelle, Marina
;
L'Erario, Federica Francesca
, et al.
소스
Genes
. Feb2023, Vol. 14 Issue 2, p245. 12p.
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7 . Academic Journal
A common pattern of somatic mutations in t‐MDS/AML of patients treated with PARP inhibitors for metastatic ovarian cancer.
저자
by
Chiusolo, Patrizia
;
Marchetti, Claudia
;
Rossi, Monica
;
Minnella, Gessica
;
Salutari, Vanda
, et al.
소스
American Journal of Hematology; Nov2022, Vol. 97 Issue 11, pE400-E403, 4p
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7 .
Generation of an induced pluripotent stem cell line (UCSCi002-A) from a patient with a variant in TARDBP gene associated with familial amyotrophic lateral sclerosis and frontotemporal dementia
저자
by
Martello, Francesco
;
Lattante, Serena
;
Doronzio, Paolo Niccolò
;
Conte, Amelia
;
Bisogni, Giulia
, et al.
소스
In
Stem Cell Research
July 2022 62
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