E-LIB Suche - Ergebnisse für: Gioia, Silvio Alessandro Di

1

Expanding the genetics and phenotypes of ocular congenital ..:

Jurgens, Julie A. ; Barry, Brenda J. ; Chan, Wai-Man...
Genetics in Medicine. , 2024

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

2

Noncoding variants alter GATA2 expression in rhombomere 4 m..:

Tenney, Alan P. ; Di Gioia, Silvio Alessandro ; Webb, Bryn D....
Nature Genetics. 55 (2023) 7 - p. 1149-1163 , 2023

Link: https://doi.org/10.1038/..

3

ANGPTL7, a therapeutic target for increased intraocular pre..:

Praveen, Kavita ; Patel, Gaurang C. ; Gurski, Lauren...
Communications Biology. 5 (2022) 1 - p. , 2022

Link: https://doi.org/10.1038/..

4

24. WHOLE EXOME SEQUENCING META-ANALYSIS OF DEPRESSION SUGG..:

Moscati, Arden ; Rajagopal, Veera M. ; Gioia, Silvio Alessandro Di...
European Neuropsychopharmacology. 51 (2021) - p. e53 , 2021

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

5

Recurrent Rare Copy Number Variants Increase Risk for Esotr..:

Whitman, Mary C. ; Di Gioia, Silvio Alessandro ; Chan, Wai-Man...
Investigative Opthalmology & Visual Science. 61 (2020) 10 - p. 22 , 2020

Link: https://doi.org/10.1167/..

6

Decreased ACKR3 (CXCR7) function causes oculomotor synkines..:

Whitman, Mary C ; Miyake, Noriko ; Nguyen, Elaine H...
Human Molecular Genetics. 28 (2019) 18 - p. 3113-3125 , 2019

Link: https://doi.org/10.1093/..

7

The Liberfarb syndrome, a multisystem disorder affecting ey..:

Peter, Virginie G. ; Quinodoz, Mathieu ; Pinto-Basto, Jorge...
Genetics in Medicine. 21 (2019) 12 - p. 2734-2743 , 2019

Link: https://doi.org/10.1038/..

8

A defect in myoblast fusion underlies Carey-Fineman-Ziter s..:

Di Gioia, Silvio Alessandro ; Connors, Samantha ; Matsunami, Norisada...
Nature Communications. 8 (2017) 1 - p. , 2017

Link: https://doi.org/10.1038/..

9

Analysis of the genetic basis of periodic fever with aphtho..:

Gioia, Silvio Alessandro Di ; Bedoni, Nicola ; von Scheven-Gête, Annette...
Scientific Reports. 5 (2015) 1 - p. , 2015

Link: https://doi.org/10.1038/..

10

Identification of two novel mutations in CDHR1 in consangui..:

Nikopoulos, Konstantinos ; Avila-Fernandez, Almudena ; Corton, Marta...
Scientific Reports. 5 (2015) 1 - p. , 2015

Link: https://doi.org/10.1038/..

11

Molecular Genetics of FAM161A in North American Patients wi..:

Venturini, Giulia ; Di Gioia, Silvio Alessandro ; Harper, Shyana...
PLoS ONE. 9 (2014) 3 - p. e92479 , 2014

Link: https://doi.org/10.1371/..

12

FAM161A, associated with retinitis pigmentosa, is a compone..:

Di Gioia, Silvio Alessandro ; Letteboer, Stef J.F. ; Kostic, Corinne...
Human Molecular Genetics. 21 (2012) 23 - p. 5174-5184 , 2012

Link: https://doi.org/10.1093/..

13

Noncoding variants alter GATA2 expression in rhombomere 4 m..:

Tenney, Alan P ; Di Gioia, Silvio Alessandro ; Webb, Bryn D...
qt0w01w8fm. , 2023

Link: https://escholarship.org..

14

Noncoding variants alter GATA2 expression in rhombomere 4 m..:

Tenney, Alan P ; Di Gioia, Silvio Alessandro ; Webb, Bryn D...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10335940/. , 2023

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

15

Recessive variants in COL25A1 gene as novel cause of arthro..:

Natera-de Benito, Daniel ; Jurgens, Julie A ; Yeung, Alison...
https://discovery.ucl.ac.uk/id/eprint/10145932/1/Zaharieva_Manuscript%20COL25A1-Natera%20et%20al%20for%20Hum%20Mutation%20Jan%202022.pdf. , 2022

Link: https://discovery.ucl.ac..