E-LIB Suche - Ergebnisse für: Tassano, Elisa

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

Small interstitial 9p24.3 deletions principally involving K..:

Wallis, Mathew J. ; Boys, Amber ; Tassano, Elisa.
European Journal of Medical Genetics. 63 (2020) 1 - p. 103618 , 2020

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

5

Prenatal Diagnosis of an Uncommon 48,XX,+18+21 Karyotype in..:

Fiorio, Patrizia ; Donarini, Gloria ; Fulcheri, Ezio...
Journal of Ultrasound in Medicine. 39 (2020) 11 - p. 2277-2279 , 2020

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

6

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/..

7

'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/..

8

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/..

9

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/..

10

Interstitial 9p24.3 deletion involving only DOCK8 and KANK1..:

Tassano, Elisa ; Accogli, Andrea ; Pavanello, Marco...
European Journal of Medical Genetics. 59 (2016) 1 - p. 20-25 , 2016

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

11

Interstitial 11q24 deletion: a new case and review of the l..:

Tassano, Elisa ; Janis, Sara ; Canepa, Alberto...
Journal of Applied Genetics. 57 (2016) 3 - p. 357-362 , 2016

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

12

Assessment of copy number variations in 120 patients with P..:

Vaccari, Carlotta Maria ; Tassano, Elisa ; Torre, Michele...
BMC Medical Genetics. 17 (2016) 1 - p. , 2016

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

13

Interstitial de novo 18q22.3q23 deletion: clinical, neurora..:

Tassano, Elisa ; Severino, Mariasavina ; Rosina, Silvia...
Molecular Cytogenetics. 9 (2016) 1 - p. , 2016

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

14

Association of achondroplasia with sagittal synostosis and ..:

Accogli, Andrea ; Pacetti, Mattia ; Fiaschi, Pietro...
American Journal of Medical Genetics Part A. 167 (2015) 3 - p. 646-652 , 2015

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

15

Congenital aural atresia associated with agenesis of intern..:

Tassano, Elisa ; Jagannathan, Vidhya ; Drögemüller, Cord...
American Journal of Medical Genetics Part A. 167 (2015) 3 - p. 537-544 , 2015

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