E-LIB Suche - Ergebnisse für: Sorrentino, Ugo

1

A yeast based assay establishes the pathogenicity of novel ..:

Calderan, Cristina ; Sorrentino, Ugo ; Persano, Luca...
European Journal of Human Genetics. 32 (2024) 7 - p. 804-812 , 2024

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

2

The impact of a second embryo biopsy for preimplantation ge..:

Guarneri, Cristina ; Reschini, Marco ; Pinna, Monica...
Journal of Assisted Reproduction and Genetics. 41 (2024) 5 - p. 1173-1179 , 2024

Link: https://doi.org/10.1007/..

3

CHD8-related disorders redefined: an expanding spectrum of ..:

Sorrentino, Ugo ; Boesch, Sylvia ; Doummar, Diane...
Journal of Neurology. 271 (2024) 5 - p. 2859-2865 , 2024

Link: https://doi.org/10.1007/..

4

Myoclonus and Dystonia as Recurrent Presenting Features in ..:

Sorrentino, Ugo ; Romito, Luigi M. ; Garavaglia, Barbara...
Tremor and Other Hyperkinetic Movements. 14 (2024) 1 - p. , 2024

Link: https://doi.org/10.5334/..

5

Public Awareness and Acceptability of PGT-M in Cancer Predi..:

Calosci, Davide ; Passaglia, Lisa ; Gabbiato, Ilaria...
Genes. 14 (2023) 11 - p. 2069 , 2023

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

6

ZFHX4 truncating variant and orofacial clefting:

Sorrentino, Ugo ; Fedrigo, Marny ; Calò, Anna Paola...
American Journal of Medical Genetics Part A. 194 (2023) 1 - p. 115-116 , 2023

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

7

PGT-M for Premature Ovarian Failure Related to CGG Repeat E..:

Persico, Tiziana ; Tranquillo, Maria Lucrezia ; Seracchioli, Renato..
Genes. 15 (2023) 1 - p. 6 , 2023

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

8

Homozygous TNNI3 Mutations and Severe Early Onset Dilated C..:

Sorrentino, Ugo ; Gabbiato, Ilaria ; Canciani, Chiara...
Genes. 14 (2023) 3 - p. 748 , 2023

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

9

Preimplantation Genetic Testing for Genetic Diseases: Limit..:

Giuliano, Roberta ; Maione, Anna ; Vallefuoco, Angela..
Genes. 14 (2023) 11 - p. 2095 , 2023

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

10

Severe trichothiodystrophy and cardiac malformation in a ne..:

Sorrentino, Ugo ; Agosto, Caterina ; Benini, Franca...
Clinical Genetics. 104 (2023) 5 - p. 604-606 , 2023

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

11

Epigenetics of pregnancy: looking beyond the DNA code:

Zuccarello, Daniela ; Sorrentino, Ugo ; Brasson, Valeria...
Journal of Assisted Reproduction and Genetics. 39 (2022) 4 - p. 801-816 , 2022

Link: https://doi.org/10.1007/..

12

Epilepsy in NF1: Epidemiologic, Genetic, and Clinical Featu..:

Sorrentino, Ugo ; Bellonzi, Silvia ; Mozzato, Chiara...
Cancers. 13 (2021) 24 - p. 6336 , 2021

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

13

DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Rep..:

Sorrentino, Ugo ; Piccolo, Chiara ; Rigon, Chiara...
Audiology Research. 11 (2021) 4 - p. 582-593 , 2021

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

14

The multiple roles of coenzyme Q in cellular homeostasis an..:

Baschiera, Elisa ; Sorrentino, Ugo ; Calderan, Cristina..
Free Radical Biology and Medicine. 166 (2021) - p. 277-286 , 2021

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

15

Genetics & Epigenetics of Hereditary Deafness: An Historica..:

Martini, Alessandro ; Sorrentino, Flavia ; Sorrentino, Ugo.
Audiology Research. 11 (2021) 4 - p. 629-635 , 2021

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