E-LIB Suche - Ergebnisse für: Inglehearn, Christopher

1

Genetic linkage of cone–rod retinal dystrophy to chromosome..:

Evans, Kevin ; Fryer, Alan ; Inglehearn, Christopher...
Nature Genetics. 6 (1994) 2 - p. 210-213 , 1994

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

2

Mutations in the human retinal degeneration slow (RDS) gene..:

Wells, John ; Wroblewski, John ; Keen, Jeffrey...
Nature Genetics. 3 (1993) 3 - p. 213-218 , 1993

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

3

A Fourth KLK4 Mutation Is Associated with Enamel Hypominera..:

Smith, Claire E. L. ; Kirkham, Jennifer ; Day, Peter F....
Frontiers in Physiology. 8 (2017) - p. , 2017

Link: https://doi.org/10.3389/..

4

The Meckel-Gruber syndrome protein TMEM67 controls basal bo..:

Abdelhamed, Zakia A. ; Natarajan, Subaashini ; Wheway, Gabrielle...
Disease Models & Mechanisms. 8 (2015) 6 - p. 527-541 , 2015

Link: https://doi.org/10.1242/..

5

Heimler Syndrome Is Caused by Hypomorphic Mutations in the ..:

Ratbi, Ilham ; Falkenberg, Kim D. ; Sommen, Manou...
The American Journal of Human Genetics. 97 (2015) 4 - p. 535-545 , 2015

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

6

The D153del Mutation in GNB3 Gene Causes Tissue Specific Si..:

Tummala, Hemanth ; Fleming, Stewart ; Hocking, Paul M....
PLoS ONE. 6 (2011) 8 - p. e21156 , 2011

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

7

Molecular genetics of inherited retinal degenerations:

Lindsay, Susan ; Inglehearn, Christopher F. ; Curtis, Ann.
Current Opinion in Genetics & Development. 2 (1992) 3 - p. 459-466 , 1992

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

8

Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosoma..:

Jaureguiberry, Graciana ; De la Dure-Molla, Muriel ; Parry, David...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3782194. , 2013

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

9

Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosoma..:

Jaureguiberry, Graciana ; De la Dure-Molla, Muriel ; Parry, David...
Nephron. Physiology -- 1660-2137. , 2012

Link: https://doi.org/10.1159/..

10

A Fourth KLK4 Mutation Is Associated with Enamel Hypominera..:

Smith, Claire E. L ; Kirkham, Jennifer ; Day, Peter F...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5447068/. , 2017

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

11

Heimler Syndrome Is Caused by Hypomorphic Mutations in the ..:

Ratbi, Ilham ; Falkenberg, Kim D ; Sommen, Manou...
Ratbi , I , Falkenberg , K D , Sommen , M , Al-Sheqaih , N , Guaoua , S , Vandeweyer , G , Urquhart , J , Chandler , K E , Williams , S , Roberts , N , El Alloussi , M , Black , G , Ferdinandusse , S , Ramdi , H , Heimler , A , Fryer , A , Lynch , S-A , Cooper , N , Ong , K R , Smith , C E L , Inglehearn , C F , Mighell , A J , Elcock , C , Poulter , J A , Tischkowitz , M , Davies , S J , Sefiani , A , Mironov , A , Newman , W , Waterham , H R & Van Camp , G 2015 , ' Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. ' , American Journal of Human Genetics , vol. 97 , no. 4 , pp. 535-545 . https://doi.org/10.1016/j.ajhg.2015.08.011. , 2015

Link: https://research.manches..

12

Heimler Syndrome Is Caused by Hypomorphic Mutations in the ..:

Ratbi, Ilham ; Falkenberg, Kim D ; Sommen, Manou...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4596894/. , 2015

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

13

The D153del mutation in GNB3 gene causes tissue specific si..:

Tummala, Hemanth ; Fleming, Stewart ; Hocking, Paul M...
Tummala , H , Fleming , S , Hocking , P M , Wehner , D , Naseem , Z , Ali , M , Inglehearn , C F , Zhelev , N & Lester , D H 2011 , ' The D153del mutation in GNB3 gene causes tissue specific signalling patterns and an abnormal renal morphology in rge chickens ' , PLoS One , vol. 6 , no. 8 , e21156. . https://doi.org/10.1371/journal.pone.0021156. , 2011

Link: https://rke.abertay.ac.u..

14

Abnormal dark adaptation kinetics in autosomal dominant sec..:

Moore, Anthony T ; Fitzke, Fred W ; Kemp, Colin M...
issn: 0007-1161. , 1992

Link: http://hdl.handle.net/10..

15

A 3-bp Deletion in the Rhodopsin Gene in a Family with Auto..:

Inglehearn, Christopher F ; Bhattacharya, Shom Shanker
American journal of human genetics 48(1): 26-30 (1991). , 1991

Link: http://hdl.handle.net/10..