E-LIB Suche - Ergebnisse für: Ronchetto, Patrizia

1

Expanding the phenotype associated with interstitial 6p25.1..:

Tassano, Elisa ; Uccella, Sara ; Severino, Mariasavina...
Journal of Genetics. 100 (2021) 1 - p. , 2021

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

2

Neurodevelopmental Disorders in Patients With Complex Pheno..:

Servetti, Martina ; Pisciotta, Livia ; Tassano, Elisa...
Frontiers in Genetics. 12 (2021) - p. , 2021

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

3

Atypical presentation of Dent disease in a patient with int..:

Drovandi, Stefania ; Servetti, Martina ; Angeletti, Andrea...
Journal of Nephrology. 34 (2021) 6 - p. 2111-2115 , 2021

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

4

1p31.1 microdeletion including only NEGR1 gene in two patie..:

Tassano, Elisa ; Uccella, Sara ; Giacomini, Thea...
European Journal of Medical Genetics. 63 (2020) 6 - p. 103919 , 2020

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

5

'Distal 16p12.2 microdeletion' in a patient with autosomal ..:

Tassano, Elisa ; Ronchetto, Patrizia ; Calcagno, Annalisa...
Journal of Genetics. 98 (2019) 2 - p. , 2019

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

6

Intragenic duplication of KCNQ5 gene results in aberrant sp..:

Rosti, Giulia ; Tassano, Elisa ; Bossi, Simone...
European Journal of Medical Genetics. 62 (2019) 9 - p. 103555 , 2019

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

7

3q29 microduplication syndrome: Description of two new case..:

Tassano, Elisa ; Uccella, Sara ; Giacomini, Thea...
European Journal of Medical Genetics. 61 (2018) 8 - p. 428-433 , 2018

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

8

Clinico-radiological and molecular characterization of a ch..:

Severino, Mariasavina ; Accogli, Andrea ; Gimelli, Giorgio...
Molecular Cytogenetics. 8 (2015) 1 - p. , 2015

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

9

RORB gene and 9q21.13 microdeletion: Report on a patient wi..:

Baglietto, Maria Giuseppina ; Caridi, Gianluca ; Gimelli, Giorgio...
European Journal of Medical Genetics. 57 (2014) 1 - p. 44-46 , 2014

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

10

Phenotypic and genetic characterization of a patient with a..:

Tassano, Elisa ; Accogli, Andrea ; Panigada, Serena...
Molecular Cytogenetics. 7 (2014) 1 - p. 49 , 2014

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

11

Microarray based analysis of an inherited terminal 3p26.3 d..:

Cuoco, Cristina ; Ronchetto, Patrizia ; Gimelli, Stefania...
Orphanet Journal of Rare Diseases. 6 (2011) 1 - p. , 2011

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

12

Point mutations affecting the tyrosine kinase domain of the..:

Romeo, Giovanni ; Ronchetto, Patrizia ; Luo, Yin...
Nature. 367 (1994) 6461 - p. 377-378 , 1994

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

13

Four new mutations of the CFTR gene (541delC, R347H, R352Q,..:

Cremonesi, Laura ; Ferrari, Maurizio ; Belloni, Elena...
Human Mutation. 1 (1992) 4 - p. 314-319 , 1992

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

14

A nonsense mutation (R1158X) and a splicing mutation (3849 ..:

Ronchetto, Patrizia ; Telleria Orriols, Juan Jose ; Fanen, Pascale...
Genomics. 12 (1992) 2 - p. 417-418 , 1992

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

15

Frequency of the ΔF508 mutation in a sample of 175 Italian ..:

Cremonesi, Laura ; Ruocco, Luca ; Seia, Manuela...
Human Genetics. 85 (1990) 4 - p. 400-402 , 1990

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