E-LIB Suche - Ergebnisse für: Ronchetto, Patrizia

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

Table1_Neurodevelopmental Disorders in Patients With Comple..:

Martina Servetti ; Livia Pisciotta ; Elisa Tassano...
doi:10.3389/fgene.2021.732002.s002. , 2021

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

5

Neurodevelopmental Disorders in Patients With Complex Pheno..:

Martina Servetti ; Livia Pisciotta ; Elisa Tassano...
https://www.frontiersin.org/articles/10.3389/fgene.2021.732002/full. , 2021

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

6

DataSheet1_Neurodevelopmental Disorders in Patients With Co..:

Martina Servetti ; Livia Pisciotta ; Elisa Tassano...
doi:10.3389/fgene.2021.732002.s001. , 2021

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

7

Table1_Neurodevelopmental Disorders in Patients With Comple..:

Martina Servetti (10159493) ; Livia Pisciotta (10159490) ; Elisa Tassano (385898)...
https://figshare.com/articles/dataset/Table1_Neurodevelopmental_Disorders_in_Patients_With_Complex_Phenotypes_and_Potential_Complex_Genetic_Basis_Involving_Non-Coding_Genes_and_Double_CNVs_XLSX/16651624. , 2021

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

8

Neurodevelopmental Disorders in Patients With Complex Pheno..:

Servetti, Martina ; Pisciotta, Livia ; Tassano, Elisa...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8490884/. , 2021

Link: http://www.ncbi.nlm.nih...

9

DataSheet1_Neurodevelopmental Disorders in Patients With Co..:

Martina Servetti (10159493) ; Livia Pisciotta (10159490) ; Elisa Tassano (385898)...
https://figshare.com/articles/dataset/DataSheet1_Neurodevelopmental_Disorders_in_Patients_With_Complex_Phenotypes_and_Potential_Complex_Genetic_Basis_Involving_Non-Coding_Genes_and_Double_CNVs_PDF/16651618. , 2021

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

10

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/..

11

'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/..

12

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/..

13

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/..

14

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/..

15

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/..