E-LIB Suche - Ergebnisse für: Francesca Peluso

1

Identification of bi‐allelic LFNG variants in three patient..:

Lecca, Mauro ; Bedeschi, Maria Francesca ; Izzi, Claudia...
Clinical Genetics. 104 (2023) 2 - p. 230-237 , 2023

Link: https://doi.org/10.1111/..

2

Split Hand-Foot and Deafness in a Patient with 7q21.13-q21...:

Ambrosetti, Irene ; Bernardini, Laura ; Pollazzon, Marzia...
Genes. 14 (2023) 8 - p. 1526 , 2023

Link: https://doi.org/10.3390/..

3

Deep phenotyping of the neuroimaging and skeletal features ..:

Peluso, Francesca ; Caraffi, Stefano G ; Contrò, Gianluca...
Journal of Medical Genetics. 60 (2023) 12 - p. 1224-1234 , 2023

Link: https://doi.org/10.1136/..

4

Diprosopus: A Rare Case of Craniofacial Duplication and a S..:

Trevisani, Viola ; Balestri, Eleonora ; Napoli, Manuela...
Genes. 14 (2023) 9 - p. 1745 , 2023

Link: https://doi.org/10.3390/..

5

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/..

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

Leopard-like retinopathy and severe early-onset portal hype..:

Peluso, Francesca ; Palazzo, Viviana ; Indolfi, Giuseppe...
BMC Medical Genomics. 14 (2021) 1 - p. , 2021

Link: https://doi.org/10.1186/..

8

Whole Exome Sequencing Is the Minimal Technological Approac..:

Peluso, Francesca ; Caraffi, Stefano Giuseppe ; Zuntini, Roberta...
Genes. 12 (2021) 7 - p. 962 , 2021

Link: https://doi.org/10.3390/..

9

A monoallelicSEC23AvariantE599Kassociated withcranio‐lentic..:

Cisarova, Katarina ; Garavelli, Livia ; Caraffi, Stefano Giuseppe...
American Journal of Medical Genetics Part A. 188 (2021) 1 - p. 319-325 , 2021

Link: https://doi.org/10.1002/..

10

Clinical Manifestations in a Girl with NAA10-Related Syndro..:

Maini, Ilenia ; Caraffi, Stefano G. ; Peluso, Francesca...
Genes. 12 (2021) 6 - p. 900 , 2021

Link: https://doi.org/10.3390/..

11

Expanding the phenotype of Wiedemann‐Steiner syndrome: Cran..:

Giangiobbe, Sara ; Caraffi, Stefano Giuseppe ; Ivanovski, Ivan...
American Journal of Medical Genetics Part A. 182 (2020) 12 - p. 2877-2886 , 2020

Link: https://doi.org/10.1002/..

12

An early diagnosis of trichorhinophalangeal syndrome type 1..:

Trippella, Giulia ; Lionetti, Paolo ; Naldini, Sara...
Italian Journal of Pediatrics. 44 (2018) 1 - p. , 2018

Link: https://doi.org/10.1186/..

13

Diprosopus: A Rare Case of Craniofacial Duplication and a S..:

Viola Trevisani ; Eleonora Balestri ; Manuela Napoli...
Human Genomics and Genetic Diseases. , 2023

Link: https://doi.org/10.3390/..

14

Prenatal Clinical Findings in RASA1-Related Capillary Malfo..:

Emanuele Coccia ; Lara Valeri ; Roberta Zuntini...
Human Genomics and Genetic Diseases. , 2023

Link: https://doi.org/10.3390/..

15

Split Hand-Foot and Deafness in a Patient with 7q21.13-q21...:

Irene Ambrosetti ; Laura Bernardini ; Marzia Pollazzon...
https://www.mdpi.com/2073-4425/14/8/1526. , 2023

Link: https://doi.org/10.3390/..