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51

RP1 and retinitis pigmentosa: report of novel mutations and insight into mutational mechanism

Al-Rashed, M., Abu Safieh, L., Alkuraya, H., Aldahmesh, M. A., Alzahrani, J., Diya, M., Hashem, M., Hardcastle, A. J., Al-Hazzaa, S. A. F., Alkuraya, F. S.

Journal:

British Journal of Ophthalmology

Year:

2012

Language:

english

File:

PDF, 542 KB

english, 2012

52

Posterior Microphthalmos as a Genetically Heterogeneous Condition That Can Be Allelic to Nanophthalmos

Aldahmesh, Mohammed A.

Journal:

Archives of Ophthalmology

Year:

2011

Language:

english

File:

PDF, 166 KB

english, 2011

53

IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome

Aldahmesh, M. A., Li, Y., Alhashem, A., Anazi, S., Alkuraya, H., Hashem, M., Awaji, A. A., Sogaty, S., Alkharashi, A., Alzahrani, S., Al Hazzaa, S. A., Xiong, Y., Kong, S., Sun, Z., Alkuraya, F. S.

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 1.07 MB

english, 2014

54

Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping

Abu Safieh, L., Aldahmesh, M. A., Shamseldin, H., Hashem, M., Shaheen, R., Alkuraya, H., Al Hazzaa, S. A. F., Al-Rajhi, A., Alkuraya, F. S.

Journal:

Journal of Medical Genetics

Year:

2010

Language:

english

File:

PDF, 640 KB

english, 2010

55

Molecular Characterization of Newborn Glaucoma Including a Distinct Aniridic Phenotype

Khan, Arif O., Aldahmesh, Mohammed A., Al-Abdi, Lama, Mohamed, Jawahir Y., Hashem, Mais, Al-Ghamdi, Ismael, Alkuraya, Fowzan S.

Journal:

Ophthalmic Genetics

Year:

2011

Language:

english

File:

PDF, 729 KB

english, 2011

56

Clinical Characterization of LRPAP1-Related Pediatric High Myopia

Khan, Arif O., Aldahmesh, Mohammed A., Alkuraya, Fowzan S.

Journal:

Year:

2016

Language:

english

File:

PDF, 423 KB

english, 2016

57

Autozygosity Mapping with Exome Sequence Data

Carr, Ian M., Bhaskar, Sanjeev, O’ Sullivan, James, Aldahmesh, Mohammed A., Shamseldin, Hanan E., Markham, Alexander F., Bonthron, David T., Black, Graeme, Alkuraya, Fowzan S.

Journal:

Year:

2013

Language:

english

File:

PDF, 605 KB

english, 2013

58

Neuronal ceroid lipofuscinosis caused byMFSD8mutations: a common theme emerging

M. A. Aldahmesh, Z. N. Al-Hassnan, M. Aldosari, F. S. Alkuraya

Journal:

Year:

2009

Language:

english

File:

PDF, 674 KB

english, 2009

59

Recessive Cornea Plana in the Kingdom of Saudi Arabia

Arif O. Khan, Mohammed Aldahmesh, Brian Meyer

Journal:

Year:

2006

Language:

english

File:

PDF, 231 KB

english, 2006

60

Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus

Alazami, A. M., Hijazi, H., Al-Dosari, M. S., Shaheen, R., Hashem, A., Aldahmesh, M. A., Mohamed, J. Y., Kentab, A., Salih, M. A., Awaji, A., Masoodi, T. A., Alkuraya, F. S.

Journal:

Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 2.21 MB

english, 2013

61

Heterozygous FOXC1 Mutation (M161K) Associated with Congenital Glaucoma and Aniridia in an Infant and a Milder Phenotype in Her Mother

Khan, Arif O., Aldahmesh, Mohammad A., Al-Amri, Abdullah

Journal:

Ophthalmic Genetics

Year:

2008

Language:

english

File:

PDF, 1.27 MB

english, 2008

62

The enhanced S-cone syndrome in children

Khan, A. O, Aldahmesh, M., Meyer, B.

Journal:

British Journal of Ophthalmology

Year:

2007

Language:

english

File:

PDF, 642 KB

english, 2007

63

Congenital hereditary endothelial dystrophy, not glaucoma, in a child with iris colobomas

Khan, Arif O., Aldahmesh, Mohammed, Alkuraya, Fowzan

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Year:

2016

Language:

english

File:

PDF, 352 KB

english, 2016

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