E-LIB Suche - Ergebnisse für: Bruno, Lucia Pia

1

Patient preferences in genetic newborn screening for rare d..:

MARTIN, Sylvia ; Angolini, Emanuele ; Audi, Jennifer...
BMJ Open. 14 (2024) 4 - p. e081835 , 2024

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

2

Elucidating the clinical and molecular spectrum of SMARCC2-..:

Bosch, Elisabeth ; Popp, Bernt ; Güse, Esther...
Genetics in Medicine. 25 (2023) 11 - p. 100950 , 2023

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

3

SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndro..:

Khan, Amjad ; Bruno, Lucia Pia ; Alomar, Fadhel...
Frontiers in Molecular Neuroscience. 15 (2022) - p. , 2022

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

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

Expanding the clinical spectrum associated with the PACS1 p..:

Bruno, Lucia Pia ; Doddato, Gabriella ; Baldassarri, Margherita...
American Journal of Medical Genetics Part A. 191 (2022) 1 - p. 284-288 , 2022

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

6

Exome Sequencing in 200 Intellectual Disability/Autistic Pa..:

Valentino, Floriana ; Bruno, Lucia Pia ; Doddato, Gabriella...
Brain Sciences. 11 (2021) 7 - p. 936 , 2021

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

7

Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias..:

Doddato, Gabriella ; Valentino, Floriana ; Giliberti, Annarita...
Frontiers in Oncology. 11 (2021) - p. , 2021

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

8

Exome Sequencing in BRCA1-2 Candidate Familias: The Contrib..:

Doddato, Gabriella ; Valentino, Floriana ; Giliberti, Annarita...
Frontiers in Oncology. 11 (2021) - p. , 2021

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

9

New Candidates for Autism/Intellectual Disability Identifie..:

Bruno, Lucia Pia ; Doddato, Gabriella ; Valentino, Floriana...
International Journal of Molecular Sciences. 22 (2021) 24 - p. 13439 , 2021

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

10

Identification of a Novel Pathogenic Variant in the NAGLU G..:

Bruno, Lucia Pia ; Fava, Francesca ; Baldassarri, Margherita...
Journal of Autism and Developmental Disorders. 52 (2021) 10 - p. 4605-4607 , 2021

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

11

Elucidating the clinical and molecular spectrum of SMARCC2-..:

Bosch, Elisabeth ; Popp, Bernt ; Güse, Esther...
https://research.rug.nl/en/publications/eab0ba2a-eda7-42fc-bc42-e9859dc89f35. , 2023

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

12

Expanding the clinical spectrum associated with the PACS1 p..:

Bruno, Lucia Pia ; Doddato, Gabriella ; Baldassarri, Margherita...
info:eu-repo/semantics/altIdentifier/pmid/36210549. , 2023

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

13

Expanding the clinical spectrum associated with the PACS1 p..:

Bruno, Lucia Pia ; Doddato, Gabriella ; Baldassarri, Margherita...
info:eu-repo/semantics/altIdentifier/pmid/36210549. , 2023

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

14

Exploring genetic bases of Intellectual disability and Auti..:

Bruno, Lucia Pia
numberofpages:90. , 2022

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

15

Natural history of KBG syndrome in a large European cohort:

Loberti, Lorenzo ; Bruno, Lucia Pia ; Granata, Stefania...
info:eu-repo/semantics/altIdentifier/pmid/35861666. , 2022

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