Suchergebnisse - "Di Gioia, Silvio Alessandro"

PubPharm (30)

1

Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders

enthalten in: bioRxiv.org | 2024

von Jurgens, J. | Barry, B. | Chan, W. | +37

2

Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders

enthalten in: medRxiv : the preprint server for health sciences | 2024

von Jurgens, J. | Barry, B. | Chan, W. | +38

3

NOTCH3p.Arg1231Cys is Markedly Enriched in South Asians and Associated with Stroke

enthalten in: bioRxiv.org | 2024

von Rodriguez-Flores, J. | Khalid, S. | Parikshak, N. | +46

4

Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis

enthalten in: Nature genetics | 2023

von Tenney, A. | Di Gioia, S. | Webb, B. | +55

5

ANGPTL7, a therapeutic target for increased intraocular pressure and glaucoma

enthalten in: Communications biology | 2022

von Praveen, K. | Patel, G. | Gurski, L. | +154

6

Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder

enthalten in: Human mutation | 2022

von Natera-de Benito, D. | Jurgens, J. | Yeung, A. | +21

7

Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder

enthalten in: Human mutation | 2022

von Natera‐de Benito, D. | Jurgens, J. | Yeung, A. | +21

8

Recurrent Rare Copy Number Variants Increase Risk for Esotropia

enthalten in: Investigative ophthalmology & visual science | 2020

von Whitman, M. | Di Gioia, S. | Chan, W. | +19

9

Brain phenotyping in Moebius syndrome and other congenital facial weakness disorders by diffusion MRI morphometry

enthalten in: Brain communications | 2020

von Sadeghi, N. | Hutchinson, E. | Van Ryzin, C. | +56

10

The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2019

von Peter, V. | Quinodoz, M. | Pinto-Basto, J. | +14