E-LIB Suche - Ergebnisse für: Aldahmesh, Mohammed A.

1

Congenital glaucoma and CYP1B1: an old story revisited:

Alsaif, Hessa S. ; Khan, Arif O. ; Patel, Nisha...
Human Genetics. 138 (2018) 8-9 - p. 1043-1049 , 2018

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

2

Infantile Nephropathic Cystinosis: A Novel CTNS Mutation:

Aldahmesh, Mohammed ; Döneray, Hakan ; Orbak, Zerrin..
cd558bbd-5471-478c-bfd3-da72e461041c. , 2017

Link: https://doi.org/10.5152/..

3

Infantile Nephropathic Cystinosis: A Novel CTNS Mutation:

Doneray, Hakan ; Aldahmesh, Mohammed ; Yilmaz, Gulsah..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5469843/. , 2017

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

4

Novel phenotypes and loci identified through clinical genom..:

Patel, Nisha ; Anand, Deepti ; Monies, Dorota...
Human Genetics. 136 (2016) 2 - p. 205-225 , 2016

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

5

Expanding the clinical, allelic, and locus heterogeneity of..:

Patel, Nisha ; Aldahmesh, Mohammed A. ; Alkuraya, Hisham...
Genetics in Medicine. 18 (2016) 6 - p. 554-562 , 2016

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

6

Characterizing the morbid genome of ciliopathies:

Ciliopathy WorkingGroup ; Shaheen, Ranad ; Szymanska, Katarzyna...
Genome Biology. 17 (2016) 1 - p. , 2016

Link: https://doi.org/10.1186/..

7

Congenital hereditary endothelial dystrophy, not glaucoma, ..:

Khan, Arif O. ; Aldahmesh, Mohammed A. ; Alkuraya, Fowzan
Journal of American Association for Pediatric Ophthalmology and Strabismus. 20 (2016) 4 - p. 370-372 , 2016

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

8

Novel phenotypes and loci identified through clinical genom..:

Patel, Nisha ; Anand, Deepti ; Monies, Dorota...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5783298/. , 2016

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

9

Characterizing the morbid genome of ciliopathies:

Shaheen, Ranad ; Szymanska, Katarzyna ; Basu, Basudha...
http://genomebiology.com/2016/17/1/242. , 2016

Link: http://genomebiology.com..

10

Exome-based case–control association study using extreme ph..:

Shtir, Corina ; Aldahmesh, Mohammed A. ; Al-Dahmash, Saad...
Human Genetics. 135 (2015) 2 - p. 193-200 , 2015

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

11

Accelerating Novel Candidate Gene Discovery in Neurogenetic..:

Alazami, Anas M. ; Patel, Nisha ; Shamseldin, Hanan E....
Cell Reports. 10 (2015) 2 - p. 148-161 , 2015

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

12

Phenotypes of Recessive Pediatric Cataract in a Cohort of C..:

Khan, Arif O ; Aldahmesh, Mohammed A ; Alkuraya, Fowzan S
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4634221/. , 2015

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

13

An siRNA-based functional genomics screen for the identific..:

Wheway, Gabrielle ; Schmidts, Miriam ; Mans, Dorus A...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4536769/. , 2015

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

14

Accelerating Novel Candidate Gene Discovery in Neurogenetic..:

Anas M. Alazami ; Nisha Patel ; Hanan E. Shamseldin...
http://www.sciencedirect.com/science/article/pii/S2211124714010444. , 2015

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

15

Congenital glaucoma with acquired peripheral circumferentia..:

Khan, Arif O. ; Aldahmesh, Mohammed A. ; Mohamed, Jawahir Y..
Journal of American Association for Pediatric Ophthalmology and Strabismus. 17 (2013) 1 - p. 105-107 , 2013

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