E-LIB Suche - Ergebnisse für: Stanzial, Franco

1

Natural history of adults with KBG syndrome: a physician-re..:

Bayat, Allan ; Grimes, Hannah ; de Boer, Elke...
Genetics in Medicine. , 2024

2

Recurrent, founder and hypomorphic variants contribute to t..:

Serpieri, Valentina ; Mortarini, Giulia ; Loucks, Hailey...
Journal of Medical Genetics. 60 (2023) 9 - p. 885-893 , 2023

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

3

Expanding the genetics and phenotypic spectrum of Lysine-sp..:

Leonardi, Emanuela ; Aspromonte, Maria Cristina ; Drongitis, Denise...
European Journal of Human Genetics. 31 (2022) 2 - p. 202-215 , 2022

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

4

Natural history of KBG syndrome in a large European cohort:

Loberti, Lorenzo ; Bruno, Lucia Pia ; Granata, Stefania...
Human Molecular Genetics. 31 (2022) 24 - p. 4131-4142 , 2022

Link: https://doi.org/10.1093/..

5

Induced Pluripotent Stem Cell (iPSC) Lines from a Family wi..:

Cattelani, Cecilia ; Battistella, Ingrid ; Di Leva, Francesca...
International Journal of Molecular Sciences. 23 (2022) 21 - p. 13095 , 2022

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

6

TFIIH stabilization recovers the DNA repair and transcripti..:

Lanzafame, Manuela ; Nardo, Tiziana ; Ricotti, Roberta...
Human Mutation. 43 (2022) 12 - p. 2222-2233 , 2022

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

7

Copy number variation analysis implicates novel pathways in..:

Guida, Valentina ; Sparascio, Francesca Piceci ; Bernardini, Laura...
Clinical Genetics. 100 (2021) 3 - p. 268-279 , 2021

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

8

Clinical aspects of Hyaline Fibromatosis Syndrome and ident..:

Härter, Bettina ; Benedicenti, Francesco ; Karall, Daniela...
Molecular Genetics & Genomic Medicine. 8 (2020) 6 - p. , 2020

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

9

Characterization of intellectual disability and autism como..:

Aspromonte, Maria C. ; Bellini, Mariagrazia ; Gasparini, Alessandra...
Human Mutation. 41 (2020) 6 - p. 1183-1183 , 2020

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

10

Frequency of Usher gene mutations in non-syndromic hearing ..:

Cesca, Federica ; Bettella, Elisa ; Polli, Roberta...
Journal of Human Genetics. 65 (2020) 10 - p. 855-864 , 2020

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

11

Characterization of intellectual disability and autism como..:

Aspromonte, Maria C. ; Bellini, Mariagrazia ; Gasparini, Alessandra...
Human Mutation. 40 (2019) 9 - p. 1346-1363 , 2019

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

12

Compound heterozygous SZT2 mutations in two siblings with e..:

Domingues, Francisco S. ; König, Eva ; Schwienbacher, Christine...
Seizure. 66 (2019) - p. 81-85 , 2019

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

13

The Clinical Phenotype of CNGA3-Related Achromatopsia: Pret..:

Zobor, Ditta ; Werner, Annette ; Stanzial, Franco...
Investigative Opthalmology & Visual Science. 58 (2017) 2 - p. 821 , 2017

Link: https://doi.org/10.1167/..

14

"Spot diagnosis" or "spot the diagnosis"?:

Benedicenti, Francesco ; Stanzial, Franco ; Wischmeijer, Anita.
Journal of the Neurological Sciences. 379 (2017) - p. 335-336 , 2017

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

15

Haploinsufficiency for ANKRD11-flanking genes makes the dif..:

Novara, Francesca ; Rinaldi, Berardo ; Sisodiya, Sanjay M...
European Journal of Human Genetics. 25 (2017) 6 - p. 694-701 , 2017

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