E-LIB Suche - Ergebnisse für: Cinquina, Valeria

1

Deciphering disease signatures and molecular targets in vas..:

Chiarelli, Nicola ; Cinquina, Valeria ; Martini, Paolo...
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1870 (2024) 1 - p. 166915 , 2024

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

2

Looking back and beyond the 2017 diagnostic criteria for hy..:

Ritelli, Marco ; Chiarelli, Nicola ; Cinquina, Valeria...
American Journal of Medical Genetics Part A. 194 (2023) 2 - p. 174-194 , 2023

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

3

Truncating variants in the penultimate exon of TGFBR1 escap..:

Fortugno, Paola ; Monetta, Rosanna ; Cinquina, Valeria...
European Journal of Human Genetics. 31 (2023) 5 - p. 596-601 , 2023

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

4

RNA-Seq of Dermal Fibroblasts from Patients with Hypermobil..:

Ritelli, Marco ; Chiarelli, Nicola ; Cinquina, Valeria...
Cells. 11 (2022) 24 - p. 4040 , 2022

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

5

Phacomatosis pigmentovascularis spilorosea mit Mutation im ..:

Maione, Vincenzo ; Soglia, Simone ; Miccio, Laura...
JDDG: Journal der Deutschen Dermatologischen Gesellschaft. 20 (2022) 8 - p. 1133-1136 , 2022

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

6

Phacomatosis pigmentovascularis spilorosea and mutation in ..:

Maione, Vincenzo ; Soglia, Simone ; Miccio, Laura...
JDDG: Journal der Deutschen Dermatologischen Gesellschaft. 20 (2022) 8 - p. 1133-1136 , 2022

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

7

Expanding the PURA syndrome phenotype: A child with the rec..:

Cinquina, Valeria ; Ciaccio, Claudia ; Venturini, Marina...
Molecular Genetics & Genomic Medicine. 9 (2020) 1 - p. , 2020

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

8

Genome-first approach for the characterization of a complex..:

Ritelli, Marco ; Palagano, Eleonora ; Cinquina, Valeria...
Bone. 140 (2020) - p. 115571 , 2020

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

9

Identification of the novel COL5A1 c.3369_3431dup, p.(Glu11..:

Ritelli, Marco ; Cinquina, Valeria ; Venturini, Marina.
Molecular Genetics & Genomic Medicine. 8 (2020) 10 - p. , 2020

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

10

Multisystemic manifestations in a cohort of 75 classical Eh..:

Ritelli, Marco ; Venturini, Marina ; Cinquina, Valeria..
Orphanet Journal of Rare Diseases. 15 (2020) 1 - p. , 2020

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

11

Application of the 2017 criteria for vascular Ehlers‐Danlos..:

Ritelli, Marco ; Rovati, Chiara ; Venturini, Marina...
Clinical Genetics. 97 (2019) 2 - p. 287-295 , 2019

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

12

Further Defining the Phenotypic Spectrum of B3GAT3 Mutation..:

Ritelli, Marco ; Cinquina, Valeria ; Giacopuzzi, Edoardo...
Genes. 10 (2019) 9 - p. 631 , 2019

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

13

Clinical and Molecular Characterization of Classical-Like E..:

Rymen, Daisy ; Ritelli, Marco ; Zoppi, Nicoletta...
Genes. 10 (2019) 11 - p. 843 , 2019

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

14

Expanding the Clinical and Mutational Spectrum of Recessive..:

Ritelli, Marco ; Cinquina, Valeria ; Venturini, Marina...
Genes. 10 (2019) 2 - p. 135 , 2019

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

15

Genotypic Categorization of Loeys-Dietz Syndrome Based on 2..:

Camerota, Letizia ; Ritelli, Marco ; Wischmeijer, Anita...
Genes. 10 (2019) 10 - p. 764 , 2019

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