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Pisaneschi, Elisa
63
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Online (63)
Mediatypes
Articles (Online) (33)
OpenAccess-fulltext (30)
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1
Cross-Sectional Study on Autosomal Recessive Congenital Ich..:
Diociaiuti, Andrea
;
Corbeddu, Marialuisa
;
Rossi, Sabrina
...
Dermatology. 240 (2024) 3 - p. 397-413 , 2024
Link:
https://doi.org/10.1159/..
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2
DNA methylation profiling in Kabuki syndrome: reclassificat..:
Niceta, Marcello
;
Ciolfi, Andrea
;
Ferilli, Marco
...
European Journal of Human Genetics. 32 (2024) 7 - p. 819-826 , 2024
Link:
https://doi.org/10.1038/..
?
3
First report of Coffin-Siris Syndrome with SMARCB1 variant,..:
Apicella, Massimo
;
Battisti, Andrea
;
Pisaneschi, Elisa
...
The Clinical Neuropsychologist. , 2024
Link:
https://doi.org/10.1080/..
?
4
Assessment of gene–disease associations and recommendations..:
Revencu, Nicole
;
Eijkelenboom, Astrid
;
Bracquemart, Claire
...
Orphanet Journal of Rare Diseases. 19 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1186/..
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5
Prenatal identification of a pathogenic maternalFGFR1varian..:
Graziani, Ludovico
;
Nuovo, Sara
;
Pisaneschi, Elisa
...
The Journal of Maternal-Fetal & Neonatal Medicine. 37 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1080/..
?
6
Neurodevelopmental and genetic findings in neonates with in..:
Campi, Francesca
;
De Rose, Domenico Umberto
;
Pugnaloni, Flaminia
...
Frontiers in Pediatrics. 11 (2023) - p. , 2023
Link:
https://doi.org/10.3389/..
?
7
Prenatal Clinical Findings in RASA1-Related Capillary Malfo..:
Coccia, Emanuele
;
Valeri, Lara
;
Zuntini, Roberta
...
Genes. 14 (2023) 3 - p. 549 , 2023
Link:
https://doi.org/10.3390/..
?
8
Prenatal ultrasound detection of collodion membrane in asso..:
Cordisco, Adalgisa
;
Lozza, Virginia
;
Di Marco, Chiara
...
Pediatric Dermatology. 41 (2023) 3 - p. 512-514 , 2023
Link:
https://doi.org/10.1111/..
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9
A New Case of Autosomal-Dominant POLR3B-Related Disorder: W..:
Colona, Vito Luigi
;
Bertini, Enrico
;
Digilio, Maria Cristina
...
Brain Sciences. 13 (2023) 11 - p. 1567 , 2023
Link:
https://doi.org/10.3390/..
?
10
Novel EDA mutations cause X-linked hypohidrotic ectodermal ..:
Cammarata-Scalisi, Francisco
;
Callea, Michele
;
Chaudhary, Ajay Kumar
...
Clinical and Experimental Dermatology. 48 (2023) 12 - p. 1409-1413 , 2023
Link:
https://doi.org/10.1093/..
?
11
A Particular Case of Autosomal Recessive Progressive Symmet..:
Gelmetti, Alessandra
;
Besagni, Francesca
;
Garavelli, Livia
...
Journal of Rare Diseases and Orphan Drugs. 4 (2023) - p. 10-18 , 2023
Link:
https://doi.org/10.36013..
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12
PIK3CA-related overgrowth with an uncommon phenotype: case ..:
Rotunno, Roberta
;
Diociaiuti, Andrea
;
Pisaneschi, Elisa
...
Italian Journal of Pediatrics. 48 (2022) 1 - p. , 2022
Link:
https://doi.org/10.1186/..
?
13
Clinical and Molecular Spectrum of Sporadic Vascular Malfor..:
Diociaiuti, Andrea
;
Rotunno, Roberta
;
Pisaneschi, Elisa
...
Biomedicines. 10 (2022) 6 - p. 1460 , 2022
Link:
https://doi.org/10.3390/..
?
14
ITGB4-mutated Junctional Epidermolysis Bullosa without Pylo..:
Mattioli, Girolamo
;
Diociaiuti, Andrea
;
Rossi, Sabrina
...
Acta Dermato-Venereologica. 102 (2022) - p. adv00706 , 2022
Link:
https://doi.org/10.2340/..
?
15
TRAPPC9-CDG: A novel congenital disorder of glycosylation w..:
Radenkovic, Silvia
;
Martinelli, Diego
;
Zhang, Yuebo
...
Genetics in Medicine. 24 (2022) 4 - p. 894-904 , 2022
Link:
https://doi.org/10.1016/..
1-15