E-LIB Suche - Ergebnisse für: Richards, Allan J.

1

Peripapillary Hyperreflective Ovoid Mass-Like Structures in..:

Khatib, Tasneem Z. ; Safi, Antoine ; Nixon, Thomas Ralph William...
Ophthalmology Retina. , 2024

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

2

Ophthalmic manifestations of Czech dysplasia:

Soh, Zack ; Martin, Howard ; Richards, Allan J...
American Journal of Medical Genetics Part A. 194 (2023) 4 - p. , 2023

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

3

Use of vitreous phenotype as a key clinical marker to ident..:

Malik, Hammad ; Soh, Zack ; Nixon, Thomas R. W....
European Journal of Ophthalmology. 34 (2023) 1 - p. NP1-NP5 , 2023

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

4

Autosomal Recessive Stickler Syndrome:

Nixon, Thomas R. W. ; Richards, Allan J. ; Martin, Howard..
Genes. 13 (2022) 7 - p. 1135 , 2022

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

5

Molecular Basis of Pathogenic Variants in the Fibrillar Col..:

Richards, Allan J. ; Snead, Martin P.
Genes. 13 (2022) 7 - p. 1199 , 2022

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

6

Dominant Stickler Syndrome:

Soh, Zack ; Richards, Allan J. ; McNinch, Annie...
Genes. 13 (2022) 6 - p. 1089 , 2022

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

7

From First to Second: How Stickler's Diagnostic Genetics Ha..:

Martin, Howard ; Richards, Allan J. ; Snead, Martin P.
Genes. 13 (2022) 7 - p. 1123 , 2022

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

8

Auditory dysfunction in type 2 Stickler Syndrome:

Alexander, Philip ; Gomersall, Philip ; Stancel-Lewis, Jack...
European Archives of Oto-Rhino-Laryngology. 278 (2020) 7 - p. 2261-2268 , 2020

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

9

Inherited and de novo biallelic pathogenic variants in COL1..:

Nixon, Thomas ; Richards, Allan J. ; Lomas, Adrian...
Molecular Genetics & Genomic Medicine. 8 (2020) 9 - p. , 2020

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

10

PAPSS2‐related brachyolmia: Clinical and radiological pheno..:

Bownass, Lucy ; Abbs, Stephen ; Armstrong, Ruth...
American Journal of Medical Genetics Part A. 179 (2019) 9 - p. 1884-1894 , 2019

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

11

Stickler Syndrome: Airway Complications in a Case Series of..:

Zimmermann, Julia ; Stubbs, Daniel J. ; Richards, Allan J....
Anesthesia & Analgesia. 132 (2019) 1 - p. 202-209 , 2019

Link: https://doi.org/10.1213/..

12

Homozygous Type IX collagen variants (COL9A1, COL9A2, and C..:

Nixon, Thomas R. W. ; Alexander, Philip ; Richards, Allan...
American Journal of Medical Genetics Part A. 179 (2019) 8 - p. 1498-1506 , 2019

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

13

Posterior Vitreous Detachment and the Posterior Hyaloid Mem..:

Fincham, Gregory S. ; James, Sean ; Spickett, Carl...
Ophthalmology. 125 (2018) 2 - p. 227-236 , 2018

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

14

The JMC Innovation Project: A Pivotal Moment for Journalism..:

Richards, Allan ; Fitzpatrick, Kathy R.
Journalism & Mass Communication Educator. 73 (2018) 2 - p. 136-146 , 2018

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

15

Bone morphogenetic protein 4 (BMP4) loss-of-function varian..:

Nixon, Thomas R. W. ; Richards, Allan ; Towns, Laura K....
European Journal of Human Genetics. 27 (2018) 3 - p. 369-377 , 2018

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