E-LIB Suche - Ergebnisse für: Pisaneschi, Elisa

1

First report of Coffin-Siris Syndrome with SMARCB1 variant,..:

Apicella, Massimo ; Battisti, Andrea ; Pisaneschi, Elisa...
The Clinical Neuropsychologist. , 2024

2

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/..

3

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/..

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/..

5

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/..

6

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..

7

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/..

8

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/..

9

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/..

10

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/..

11

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/..

12

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/..

13

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/..

14

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/..

15

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/..