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Ronchetto, Patrizia
25
results:
Search for persons
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Format
Online (25)
Mediatypes
Articles (Online) (16)
OpenAccess-fulltext (9)
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1
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/..
?
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
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/..
?
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
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/..
?
6
'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/..
?
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
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/..
?
14
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/..
?
15
Preliminary results on the frequency of the ΔF508 mutation ..:
Ronchetto, Patrizia
;
Devoto, Marcella
;
Puliti, Aldamaria
...
Human Genetics. 85 (1990) 4 - p. 423-424 , 1990
Link:
https://doi.org/10.1007/..
1-15