E-LIB Suche - Ergebnisse für: RENIERI, A

1

An Italian family carrying a new mutation in the COL4A1 gen:

Russo, A. ; Pinto, A.M. ; Lopergolo, D...
Journal of the Neurological Sciences. 414 (2020) - p. 116815 , 2020

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

2

Non-collagen genes role in digenic Alport syndrome:

Daga, S. ; Fallerini, C. ; Furini, S....
BMC Nephrology. 20 (2019) 1 - p. , 2019

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

3

CKAP2L mutation confirms the diagnosis of Filippi syndrome:

Capecchi, G. ; Baldassarri, M. ; Ferranti, S....
Clinical Genetics. 93 (2018) 5 - p. 1109-1110 , 2018

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

4

Alport syndrome: impact of digenic inheritance in patients ..:

Fallerini, C. ; Baldassarri, M. ; Trevisson, E....
Clinical Genetics. 92 (2017) 1 - p. 34-44 , 2017

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

5

A GEFI collaborative exercise on DNA/RNA co-analysis and mR..:

Carnevali, E. ; Lacerenza, D. ; Severini, S....
Forensic Science International: Genetics Supplement Series. 6 (2017) - p. e18-e20 , 2017

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

6

Visual impairment in FOXG1-mutated individuals and mice:

Boggio, E.M. ; Pancrazi, L. ; Gennaro, M....
Neuroscience. 324 (2016) - p. 496-508 , 2016

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

7

Capping of the N-terminus of PSD-95 by calmodulin triggers ..:

Zhang, Y. ; Matt, L. ; Patriarchi, T....
The EMBO Journal. , 2014

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

8

Unbiased next generation sequencing analysis confirms the e..:

Fallerini, C. ; Dosa, L. ; Tita, R....
Clinical Genetics. 86 (2013) 3 - p. 252-257 , 2013

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

9

Exome sequencing overrides formal genetics: ASPM mutations ..:

Ariani, F ; Mari, F ; Amitrano, S...
Clinical Genetics. 83 (2013) 3 - p. 288-290 , 2013

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

10

9q31.1q31.3 deletion in two patients with similar clinical ..:

Mucciolo, M. ; Magini, P. ; Marozza, A....
American Journal of Medical Genetics Part A. 164 (2013) 3 - p. 685-690 , 2013

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

11

Effects of Hyper-Early (<12 Hours) Endovascular Treatment o..:

Consoli, A. ; Grazzini, G. ; Renieri, L....
Interventional Neuroradiology. 19 (2013) 2 - p. 195-202 , 2013

Link: https://doi.org/10.1177/..

12

Five to Ten Years Follow-up after Coiling of 241 Patients w..:

Consoli, A. ; Renieri, L. ; Mura, R....
Interventional Neuroradiology. 18 (2012) 1 - p. 5-13 , 2012

Link: https://doi.org/10.1177/..

13

Vav1Haploinsufficiency in a Common Variable Immunodeficienc..:

Capitani, N. ; Ariani, F. ; Amedei, A....
International Journal of Immunopathology and Pharmacology. 25 (2012) 3 - p. 811-817 , 2012

Link: https://doi.org/10.1177/..

14

P01.02: May the Silver‐Russell syndrome be suspected in ute..:

Centini, G. ; Mencarelli, M. A. ; Mari, F...
Ultrasound in Obstetrics & Gynecology. 40 (2012) S1 - p. 171-171 , 2012

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

15

Xq28 duplications including MECP2 in five females: Expandin..:

Bijlsma, E.K. ; Collins, A. ; Papa, F.T....
European Journal of Medical Genetics. 55 (2012) 6-7 - p. 404-413 , 2012

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