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1 . Academic Journal
A Case of 18p Chromosomal Deletion Encompassing GNAL in a Patient With Dystonia-Parkinsonism
저자
by
Valzania, Franco
;
Di Fonzo, Alessio
;
Versari, Annibale
;
Bauer, Peter
;
Paul, Jefri J.
, et al.
소스
Journal of Movement Disorders
. 17(2):236-238
View Record (KoreaMed)
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7 . Academic Journal
Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy
저자
by
Monfrini, Edoardo
;
Straniero, Letizia
;
Bonato, Sara
;
Monzio Compagnoni, Giacomo
;
Bordoni, Andreina
, et al.
소스
In
Parkinsonism and Related Disorders
June 2019 63:66-72
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7 . Academic Journal
Expression of C19MC miRNAs in HCC associates with stem-cell features and the cancer-testis genes signature
저자
by
Augello, Claudia
;
Colombo, Federico
;
Terrasi, Andrea
;
Trombetta, Elena
;
Maggioni, Marco
, et al.
소스
In
Digestive and Liver Disease
June 2018 50(6):583-593
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7 . Academic Journal
Rare interstitial deletion of chromosome 2p11.2p12. Report of a new patient with developmental delay and unusual clinical features
저자
by
Silipigni, Rosamaria
;
Cattaneo, Elisa
;
Baccarin, Marco
;
Fumagalli, Monica
;
Bedeschi, Maria Francesca
.
소스
In
European Journal of Medical Genetics
January 2016 59(1):39-42
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7 . Academic Journal
P616: Cell-based noninvasive prenatal screening for a comprehensive fetal genome profiling for pathogenic submicroscopic CNVs in circulating trophoblasts from maternal blood
저자
by
Doffini, Anna
;
Forcato, Claudio
;
Mangano, Chiara
;
Lattuada, Debora
;
Aversa, Roberta
, et al.
소스
In
Genetics in Medicine Open
2023 1(1) Supplement
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7 .
Generation of human induced pluripotent stem cell line EURACi015-A from a patient affected by dilated cardiomyopathy carrying the Lamin A/C p.Glu161Lys mutation
저자
by
Cattelan, Giada
;
Sophie Frommelt, Laura
;
Volani, Chiara
;
Colliva, Andrea
;
Ciucci, Giulio
, et al.
소스
In
Stem Cell Research
September 2023 71
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7 . Academic Journal
Congenital diaphragmatic hernia in Coffin Siris syndrome: Further evidence from two cases.
저자
by
Rimoldi, Martina
;
Rinaldi, Berardo
;
Villa, Roberta
;
Cerasani, Jacopo
;
Beltrami, Benedetta
, et al.
소스
American Journal of Medical Genetics. Part A; Feb2023, Vol. 191 Issue 2, p605-611, 7p
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7 . Academic Journal
Isolation of single circulating trophoblasts from maternal circulation for noninvasive fetal copy number variant profiling.
저자
by
Doffini, Anna
;
Forcato, Claudio
;
Mangano, Chiara
;
Lattuada, Debora
;
Aversa, Roberta
, et al.
소스
Prenatal Diagnosis; Jan2023, Vol. 43 Issue 1, p14-27, 14p
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7 . Academic Journal
Positive predictive values and outcomes for uninformative cell‐free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study).
저자
by
Grati, Francesca Romana
;
Bestetti, Ilaria
;
De Siero, Daria
;
Malvestiti, Francesca
;
Villa, Nicoletta
, et al.
소스
Prenatal Diagnosis; Dec2022, Vol. 42 Issue 13, p1575-1586, 12p
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7 . Academic Journal
Prenatal ultrasound findings associated with PIGW variants: One more piece in the FRYNS syndrome puzzle? PIGW‐related prenatal findings.
저자
by
Ronzoni, Luisa
;
Boito, Simona
;
Meossi, Camilla
;
Cesaretti, Claudia
;
Rinaldi, Berardo
, et al.
소스
Prenatal Diagnosis; Nov2022, Vol. 42 Issue 12, p1493-1502, 10p
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