E-LIB Suche - Ergebnisse für: Morlino, Silvia

1

Combined exome and whole transcriptome sequencing identifie..:

Morlino, Silvia ; Vaccaro, Lorenzo ; Leone, Maria Pia...
Journal of Human Genetics. 69 (2024) 6 - p. 287-290 , 2024

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

2

Placing joint hypermobility in context: traits, disorders a..:

Morlino, Silvia ; Castori, Marco
British Medical Bulletin. 147 (2023) 1 - p. 90-107 , 2023

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

3

Specifications and validation of the ACMG/AMP criteria for ..:

Leone, Maria Pia ; Morlino, Silvia ; Nardella, Grazia...
Human Genetics. 142 (2023) 6 - p. 785-808 , 2023

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

4

Nucleotide substitutions at the p.Gly117 and p.Thr180 mutat..:

Fusco, Carmela ; Nardella, Grazia ; Morlino, Silvia...
Journal of Human Genetics. 69 (2023) 1 - p. 53-58 , 2023

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

5

A novel homozygous variant in COX5A causes an attenuated ph..:

Torraco, Alessandra ; Morlino, Silvia ; Rizza, Teresa...
Clinical Genetics. 102 (2022) 1 - p. 56-60 , 2022

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

6

Opitz syndrome: improving clinical interpretation of intron..:

Micale, Lucia ; Russo, Federica ; Mascaro, Martina...
Pediatric Research. 93 (2022) 5 - p. 1208-1215 , 2022

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

7

Generation of the induced pluripotent stem cell line UNIBSi..:

Calamaio, Serena ; Serzanti, Marialaura ; Morlino, Silvia...
Stem Cell Research. 63 (2022) - p. 102837 , 2022

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

8

Loss-of-function variants in exon 4 of TAB2 cause a recogni..:

Micale, Lucia ; Morlino, Silvia ; Carbone, Annalucia...
Genetics in Medicine. 24 (2022) 2 - p. 439-453 , 2022

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

9

Clinical presentation and molecular characterization of a n..:

Majore, Silvia ; Agolini, Emanuele ; Micale, Lucia...
Clinical Genetics. 99 (2021) 4 - p. 540-546 , 2021

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

10

Craniosynostosis is a feature of CHD7‐related CHARGE syndro..:

De Luca, Chiara ; Picone, Simonetta ; Cassina, Matteo...
American Journal of Medical Genetics Part A. 185 (2021) 7 - p. 2160-2163 , 2021

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

11

Electroclinical features of MEF2C haploinsufficiency-relate..:

Raviglione, Federico ; Douzgou, Sofia ; Scala, Marcello...
Seizure. 88 (2021) - p. 60-72 , 2021

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

12

Review of clinical and molecular variability in autosomal r..:

Morlino, Silvia ; Nardella, Grazia ; Castellana, Stefano...
American Journal of Medical Genetics Part A. 185 (2020) 3 - p. 955-965 , 2020

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

13

Exon-Trapping Assay Improves Clinical Interpretation of COL..:

Micale, Lucia ; Morlino, Silvia ; Schirizzi, Annalisa...
Genes. 11 (2020) 12 - p. 1513 , 2020

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

14

Insights into the molecular pathogenesis of cardiospondyloc..:

Micale, Lucia ; Morlino, Silvia ; Biagini, Tommaso...
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1866 (2020) 6 - p. 165742 , 2020

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

15

TAB2c.1398dup variant leads to haploinsufficiency and impai..:

Morlino, Silvia ; Carbone, Annalucia ; Ritelli, Marco...
Human Mutation. 40 (2019) 10 - p. 1886-1898 , 2019

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