Suchergebnisse - "Sensi, Alberto"

PubPharm (39)

1

A familial case of NOG -related symphalangism spectrum disorder due to a novel NOG variant

enthalten in: Clinical dysmorphology | 2022

von Parmeggiani, G. | Gualandi, F. | Limarzi, M. | +4

2

MED12 Mutation in Two Families with X-Linked Ohdo Syndrome

enthalten in: Genes | 2021

von Rocchetti, L. | Evangelista, E. | De Falco, L. | +6

3

Deciphering the pathogenesis of the COL4-related hematuric nephritis : A genotype/phenotype study

enthalten in: Molecular genetics & genomic medicine | 2021

von Uliana, V. | Sebastio, P. | Riva, M. | +11

4

Frequency of Usher gene mutations in non-syndromic hearing loss : higher variability of the Usher phenotype

enthalten in: Journal of human genetics | 2020

von Cesca, F. | Bettella, E. | Polli, R. | +12

5

Gene expression profile predicts response to the combination of tosedostat and low-dose cytarabine in elderly AML

enthalten in: Blood advances | 2020

von Visani, G. | Loscocco, F. | Dennis, M. | +13

6

Corrigendum to "Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders" [Gene 706 (2019) 162-171

enthalten in: Gene | 2020

von Magini, P. | Scarano, E. | Donati, I. | +10

ErratumFor: Gene. 2019 Jul 20;706:162-171. - PMID 31085274

7

Age and sex prevalence estimate of Joubert syndrome in Italy

enthalten in: Neurology | 2020

von Nuovo, S. | Bacigalupo, I. | Ginevrino, M. | +111

CommentIn: Neurology. 2020 Feb 25;94(8):337-338. - PMID 31969464

8

Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders

enthalten in: Gene | 2019

von Magini, P. | Scarano, E. | Donati, I. | +10

ErratumIn: Gene. 2020 Apr 20;735:144393. - PMID 32037035

9

Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations

enthalten in: Frontiers in genetics | 2018

von Morgan, A. | Lenarduzzi, S. | Cappellani, S. | +16

10

A rare case of Hemoglobin Leiden interfering with the DIFF channel of Sysmex XE-2100

enthalten in: Scandinavian journal of clinical and laboratory investigation | 2015

von Rosetti, M. | Poletti, G. | Sensi, A. | +4