Ganesh A - Search Results

1

Further phenotypic delineation of Alazami syndrome.

Al-Hinai A, Al-Hashmi S, Ganesh A, Al-Hashmi N, Al-Saegh A, Al-Mamari W, Al-Murshedi F, Al-Thihli K, Al-Kindi A, Al-Maawali A. Al-Hinai A, et al. Among authors: ganesh a. Am J Med Genet A. 2022 Aug;188(8):2485-2490. doi: 10.1002/ajmg.a.62778. Epub 2022 May 14. Am J Med Genet A. 2022. PMID: 35567578

2

Escobar variant with pursed mouth, creased tongue, ophthalmologic features, and scoliosis in 6 children from Oman.

Rajab A, Hoffmann K, Ganesh A, Sethu AU, Mundlos S. Rajab A, et al. Among authors: ganesh a. Am J Med Genet A. 2005 Apr 15;134A(2):151-7. doi: 10.1002/ajmg.a.30583. Am J Med Genet A. 2005. PMID: 15704180

3

The phenotypic spectrum of baraitser-winter syndrome: a new case and review of literature.

Ganesh A, Al-Kindi A, Jain R, Raeburn S. Ganesh A, et al. J AAPOS. 2005 Dec;9(6):604-6. doi: 10.1016/j.jaapos.2005.05.001. J AAPOS. 2005. PMID: 16414535

4

An update on ocular involvement in mucopolysaccharidoses.

Ganesh A, Bruwer Z, Al-Thihli K. Ganesh A, et al. Curr Opin Ophthalmol. 2013 Sep;24(5):379-88. doi: 10.1097/ICU.0b013e3283644ea1. Curr Opin Ophthalmol. 2013. PMID: 23872816 Review.

5

A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking.

Al-Kindi A, Kizhakkedath P, Xu H, John A, Sayegh AA, Ganesh A, Al-Awadi M, Al-Anbouri L, Al-Gazali L, Leitinger B, Ali BR. Al-Kindi A, et al. Among authors: ganesh a. BMC Med Genet. 2014 Apr 11;15:42. doi: 10.1186/1471-2350-15-42. BMC Med Genet. 2014. PMID: 24725993 Free PMC article.

6

New Ocular Associations in Sanjad-Sakati Syndrome: Case report from Oman.

Haider AS, Ganesh A, Al-Kindi A, Al-Hinai A, Al-Kharousi N, Al-Yaroubi S, Al-Zuhaibi S. Haider AS, et al. Among authors: ganesh a. Sultan Qaboos Univ Med J. 2014 Aug;14(3):e401-4. Epub 2014 Jul 24. Sultan Qaboos Univ Med J. 2014. PMID: 25097779 Free PMC article.

7

Co-inheritance of the membrane frizzled-related protein ocular phenotype and glycogen storage disease type Ib.

Mameesh M, Ganesh A, Harikrishna B, Al Zuhaibi S, Scott P, Al Kalbani S, Al Thihli K. Mameesh M, et al. Among authors: ganesh a. Ophthalmic Genet. 2017 Dec;38(6):544-548. doi: 10.1080/13816810.2017.1323340. Epub 2017 May 16. Ophthalmic Genet. 2017. PMID: 28511025

8

Normal electro-oculography in a young Omani male with genetically confirmed best disease complicated by choroidal neovascularization.

Al-Abri M, Al-Hinai A, Al Zuhaibi S, Ganesh A, Al Ghafri A, Al-Thihli K. Al-Abri M, et al. Among authors: ganesh a. Oman J Ophthalmol. 2019 Jan-Apr;12(1):37-41. doi: 10.4103/ojo.OJO_74_2018. Oman J Ophthalmol. 2019. PMID: 30787533 Free PMC article.

9

Microphthalmos-anophthalmos-coloboma (MAC) spectrum in two brothers with Renpenning syndrome due to a truncating mutation in the polyglutamine tract binding protein 1 (PQBP1) gene.

Mameesh MM, Al-Kindy A, Al-Yahyai M, Ganesh A. Mameesh MM, et al. Among authors: ganesh a. Ophthalmic Genet. 2019 Dec;40(6):534-540. doi: 10.1080/13816810.2019.1686158. Epub 2019 Nov 13. Ophthalmic Genet. 2019. PMID: 31718390

10

CNP deficiency causes severe hypomyelinating leukodystrophy in humans.

Al-Abdi L, Al Murshedi F, Elmanzalawy A, Al Habsi A, Helaby R, Ganesh A, Ibrahim N, Patel N, Alkuraya FS. Al-Abdi L, et al. Among authors: ganesh a. Hum Genet. 2020 May;139(5):615-622. doi: 10.1007/s00439-020-02144-4. Epub 2020 Mar 3. Hum Genet. 2020. PMID: 32128616

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