E-LIB Suche - Ergebnisse für: Vaisfeld, Alessandro

1

Genomic analysis of 116 autism families strengthens known r..:

Viggiano, Marta ; Ceroni, Fabiola ; Visconti, Paola...
npj Genomic Medicine. 9 (2024) 1 - p. , 2024

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

2

Two more families supporting the existence of monogenic spi..:

Palombo, Flavia ; Vaisfeld, Alessandro ; Tropeano, Valentina Concetta...
Neurogenetics. 25 (2024) 3 - p. 277-280 , 2024

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

3

Ring Chromosome 14:

, In: Human Ring Chromosomes,

Vaisfeld, Alessandro ; Crimi, Marco ; Rinaldi, Berardo - p. 215-220 , 2024

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

4

Simpson–Golabi–Behmel syndrome:

Vaisfeld, Alessandro ; Neri, Giovanni
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. , 2024

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

5

Early neurological signs in infants identified through neon..:

Pane, Marika ; Stanca, Giulia ; Ticci, Chiara...
European Journal of Pediatrics. 183 (2024) 7 - p. 2995-2999 , 2024

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

6

Structural brain abnormalities in Pallister-Killian syndrom..:

Fetta, Anna ; Toni, Francesco ; Pettenuzzo, Ilaria...
Orphanet Journal of Rare Diseases. 19 (2024) 1 - p. , 2024

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

7

Neurological assessment of newborns with spinal muscular at..:

Pane, Marika ; Donati, Maria Alice ; Cutrona, Costanza...
European Journal of Pediatrics. 181 (2022) 7 - p. 2821-2829 , 2022

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

8

3′UTR Deletion of NONO Leads to Corpus Callosum Anomaly, Le..:

Giuffrida, Maria Grazia ; Goldoni, Marina ; Genovesi, Maria Luce...
Diagnostics. 12 (2022) 10 - p. 2354 , 2022

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

9

Phenotypic Spectrum and Molecular Findings in 17 ATR-X Synd..:

Vaisfeld, Alessandro ; Taormina, Sara ; Simonati, Alessandro.
Genes. 13 (2022) 10 - p. 1792 , 2022

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

10

Neuroacanthocytosis Syndromes in an Italian Cohort: Clinica..:

Vaisfeld, Alessandro ; Bruno, Giorgia ; Petracca, Martina...
Genes. 12 (2021) 3 - p. 344 , 2021

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

11

Chromosome 14 deletions, rings, and epilepsy genes: A riddl..:

Vaisfeld, Alessandro ; Spartano, Serena ; Gobbi, Giuseppe..
Epilepsia. 62 (2020) 1 - p. 25-40 , 2020

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

12

Lynch syndrome with exclusive skin involvement: time to con..:

Vaisfeld, Alessandro ; Calicchia, Martina ; Pomponi, Maria Grazia...
Familial Cancer. 18 (2019) 4 - p. 421-427 , 2019

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

13

Guideline recommendations for diagnosis and clinical manage..:

Rinaldi, Berardo ; Vaisfeld, Alessandro ; Amarri, Sergio...
Orphanet Journal of Rare Diseases. 12 (2017) 1 - p. , 2017

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

14

A novel truncating variant within exon 7 of KAT6B associate..:

Marangi, Giuseppe ; Di Giacomo, Marilena C. ; Lattante, Serena...
American Journal of Medical Genetics Part A. 176 (2017) 2 - p. 455-459 , 2017

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

15

Simpson–Golabi–Behmel syndrome in a female: A case report a..:

Vaisfeld, Alessandro ; Pomponi, Maria Grazia ; Pietrobono, Roberta..
American Journal of Medical Genetics Part A. 173 (2016) 1 - p. 285-288 , 2016

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