E-LIB Suche - Ergebnisse für: Feresin, Agnese

1

Contiguous Gene Syndromes and Hearing Loss: A Clinical Repo..:

Bonati, Maria Teresa ; Feresin, Agnese ; Prontera, Paolo...
Genes. 15 (2024) 6 - p. 677 , 2024

2

Expanding the phenotypic spectrum of LIG4 pathogenic variat..:

Nicolle, Romain ; Boutaud, Lucile ; Loeuillet, Laurence...
European Journal of Human Genetics. 32 (2024) 5 - p. 545-549 , 2024

Link: https://doi.org/10.1038/..

3

Obliterated cavum septi pellucidi: is it always a benign fi..:

Fantasia, Ilaria ; Faletra, Flavio ; Bussani, Rossana...
The Journal of Maternal-Fetal & Neonatal Medicine. 36 (2023) 2 - p. , 2023

Link: https://doi.org/10.1080/..

4

The clinical impact of the first‐trimester nuchal transluce..:

Fantasia, Ilaria ; Catagini, Silvia ; Zamagni, Giulia...
Prenatal Diagnosis. 43 (2023) 7 - p. 929-936 , 2023

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

5

Things come in threes: A new complex allele and a novel del..:

Persico, Ilaria ; Feresin, Agnese ; Faleschini, Michela...
Molecular Genetics & Genomic Medicine. 10 (2022) 6 - p. , 2022

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

6

Case Report: Two cases of apparent discordance between non-..:

Feresin, Agnese ; Stampalija, Tamara ; Cappellani, Stefania...
Frontiers in Genetics. 13 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

7

Neonatal presentation of Loeys-Dietz syndrome: two case rep..:

Baldo, Francesco ; Morra, Laura ; Feresin, Agnese...
Italian Journal of Pediatrics. 48 (2022) 1 - p. , 2022

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

8

TTC5syndrome: Clinical and molecular spectrum of a severe a..:

Musante, Luciana ; Faletra, Flavio ; Meier, Kolja...
American Journal of Medical Genetics Part A. 188 (2022) 9 - p. 2652-2665 , 2022

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

9

The Influence of Hearing Impairment on Mental Age in Down S..:

Saksida, Amanda ; Brotto, Davide ; Pizzamiglio, Giulia...
Frontiers in Pediatrics. 9 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

10

The Role of Knockout Olfactory Receptor Genes in Odor Discr..:

Concas, Maria Pina ; Cocca, Massimiliano ; Francescatto, Margherita...
Genes. 12 (2021) 5 - p. 631 , 2021

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

11

Prenatal findings of cataract and arthrogryposis: recurrenc..:

Sirchia, Fabio ; Fantasia, Ilaria ; Feresin, Agnese...
BMC Medical Genomics. 14 (2021) 1 - p. , 2021

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

12

Modeling Postnatal Hearing Case Finding Within the Italian ..:

Orzan, Eva ; Pizzamiglio, Giulia ; Marchi, Raffaella...
Frontiers in Pediatrics. 9 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

13

Who misses the newborn hearing screening? Five years' exper..:

Feresin, Agnese ; Ghiselli, Sara ; Marchi, Raffaella...
International Journal of Pediatric Otorhinolaryngology. 124 (2019) - p. 193-199 , 2019

Link: https://doi.org/10.1016/..

14

Differential and shared genetic effects on kidney function ..:

Winkler, Thomas W ; Rasheed, Humaira ; Teumer, Alexander...
Communications Biology. , 2022

Link: http://hdl.handle.net/10..

15

Case Report: Two cases of apparent discordance between non-..:

Feresin, Agnese ; Stampalija, Tamara ; Cappellani, Stefania...
info:eu-repo/semantics/altIdentifier/pmid/36386832. , 2022

Link: https://hdl.handle.net/1..