E-LIB Suche - Ergebnisse für: Chan, Wai‐Man

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

A recurrent missense variant in the E3 ubiquitin ligase sub..:

Lecoquierre, François ; Punt, A. Mattijs ; Ebstein, Frédéric...
Genetics in Medicine. 26 (2024) 6 - p. 101119 , 2024

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

3

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/..

4

Optic Nerve Head and Retinal Abnormalities Associated with ..:

Thomas, Mervyn G. ; Maconachie, Gail D. E. ; Kuht, Helen J....
International Journal of Molecular Sciences. 22 (2021) 5 - p. 2575 , 2021

Link: https://doi.org/10.3390/..

5

TUBB3 Arg262His causes a recognizable syndrome including CF..:

Whitman, Mary C. ; Barry, Brenda J. ; Robson, Caroline D....
Human Genetics. 140 (2021) 12 - p. 1709-1731 , 2021

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

6

Novel variants in TUBA1A cause congenital fibrosis of the e..:

Jurgens, Julie A. ; Barry, Brenda J. ; Lemire, Gabrielle...
European Journal of Human Genetics. 29 (2021) 5 - p. 816-826 , 2021

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

7

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/..

8

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/..

9

Congenital monocular elevation deficiency associated with a..:

Thomas, Mervyn G ; Maconachie, Gail D E ; Constantinescu, Cris S...
British Journal of Ophthalmology. 104 (2019) 4 - p. 547-550 , 2019

Link: https://doi.org/10.1136/..

10

Genetic associations in esotropia: genome-wide association ..:

Whitman, Mary C. ; Shaaban, Sherin ; MacKinnon, Sarah...
Journal of American Association for Pediatric Ophthalmology and Strabismus. 23 (2019) 4 - p. e63 , 2019

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

11

Altered White Matter Organization in the TUBB3 E410K Syndro..:

Grant, P Ellen ; Im, Kiho ; Ahtam, Banu...
Cerebral Cortex. 29 (2018) 8 - p. 3561-3576 , 2018

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

12

Genome-Wide Association Study Identifies a Susceptibility L..:

Shaaban, Sherin ; MacKinnon, Sarah ; Andrews, Caroline...
Investigative Opthalmology & Visual Science. 59 (2018) 10 - p. 4054 , 2018

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

13

Biallelic mutations in human DCC cause developmental split-..:

Jamuar, Saumya S ; Schmitz-Abe, Klaus ; D'Gama, Alissa M...
Nature Genetics. 49 (2017) 4 - p. 606-612 , 2017

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

14

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/..

15

Human Schwann cells exhibit long‐term cell survival, are no..:

Bastidas, Johana ; Athauda, Gagani ; De La Cruz, Gabriela...
Glia. 65 (2017) 8 - p. 1278-1301 , 2017

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