E-LIB Suche - Ergebnisse für: Mohamed, Jawahir Y.

1

Expanding the phenome and variome of skeletal dysplasia:

Maddirevula, Sateesh ; Alsahli, Saud ; Alhabeeb, Lamees...
Genetics in Medicine. 20 (2018) 12 - p. 1609-1616 , 2018

2

Mutations in LRPAP1 Are Associated with Severe Myopia in Hu..:

Aldahmesh, Mohammed A. ; Khan, Arif O. ; Alkuraya, Hisham...
The American Journal of Human Genetics. 93 (2013) 2 - p. 313-320 , 2013

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

3

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/..

4

The Syndrome of Microcornea, Myopic Chorioretinal Atrophy, ..:

Aldahmesh, Mohammed A. ; Alshammari, Muneera J. ; Khan, Arif O....
Human Mutation. 34 (2013) 9 - p. 1195-1199 , 2013

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

5

Corneal enlargement without optic disk cupping in children ..:

Khan, Arif O. ; Aldahmesh, Mohammed A. ; Mohamed, Jawahir Y..
Journal of American Association for Pediatric Ophthalmology and Strabismus. 17 (2013) 6 - p. 643-645 , 2013

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

6

CYP1B1 analysis of unilateral primary newborn glaucoma in S..:

Khan, Arif O. ; Aldahmesh, Mohammed A. ; Mohamed, Jawahir Y...
Journal of American Association for Pediatric Ophthalmology and Strabismus. 16 (2012) 6 - p. 571-572 , 2012

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

7

Genomic analysis of pediatric cataract in Saudi Arabia reve..:

Aldahmesh, Mohammed A. ; Khan, Arif O. ; Mohamed, Jawahir Y....
Genetics in Medicine. 14 (2012) 12 - p. 955-962 , 2012

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

8

Identification of a truncation mutation of acylglycerol kin..:

Aldahmesh, Mohammed A. ; Khan, Arif O. ; Mohamed, Jawahir Y...
Human Mutation. 33 (2012) 6 - p. 960-962 , 2012

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

9

Familial juvenile glaucoma with underlying homozygous p.G61..:

Khan, Arif O. ; Al-Abdi, Lama ; Mohamed, Jawahir Y...
Journal of American Association for Pediatric Ophthalmology and Strabismus. 15 (2011) 2 - p. 198-199 , 2011

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

10

Mutations in ASPH Cause Facial Dysmorphism, Lens Dislocatio..:

Patel, Nisha ; Khan, Arif O ; Mansour, Ahmad...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC. , 2014

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

11

Mutations in MEOX1, Encoding Mesenchyme Homeobox 1, Cause K..:

Mohamed, Jawahir Y ; Faqeih, Eissa ; Alsiddiky, Abdulmonem...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3542464. , 2013

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

12

Mutations in LRPAP1 Are Associated with Severe Myopia in Hu..:

Aldahmesh, Mohammed A ; Khan, Arif O ; Alkuraya, Hisham...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3738831. , 2013

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

13

In search of triallelism in Bardet–Biedl syndrome:

Abu-Safieh, Leen ; Al-Anazi, Shamsa ; Al-Abdi, Lama...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3306854. , 2012

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

14

Recessive Mutations in ELOVL4 Cause Ichthyosis, Intellectua..:

Aldahmesh, Mohammed A ; Mohamed, Jawahir Y ; Alkuraya, Hisham S...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3234380. , 2011

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

15

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/..