Almureikhi M - Search Results

1

Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome.

Anastasio N, Ben-Omran T, Teebi A, Ha KC, Lalonde E, Ali R, Almureikhi M, Der Kaloustian VM, Liu J, Rosenblatt DS, Majewski J, Jerome-Majewska LA. Anastasio N, et al. Among authors: almureikhi m. Am J Hum Genet. 2010 Oct 8;87(4):553-9. doi: 10.1016/j.ajhg.2010.09.005. Am J Hum Genet. 2010. PMID: 20887961 Free PMC article.

2

Further delineation of the Van den Ende-Gupta syndrome.

Ali R, Almureikhi M, Al-Musaifri F, Bhat V, Teebi A, Ben-Omran T. Ali R, et al. Among authors: almureikhi m. Am J Med Genet A. 2010 Dec;152A(12):3095-100. doi: 10.1002/ajmg.a.33725. Am J Med Genet A. 2010. PMID: 21108395

3

Phenotypic heterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene.

Ben-Omran T, Ali R, Almureikhi M, Alameer S, Al-Saffar M, Walsh CA, Felie JM, Teebi A. Ben-Omran T, et al. Among authors: almureikhi m. Am J Med Genet A. 2011 Nov;155A(11):2647-53. doi: 10.1002/ajmg.a.34219. Epub 2011 Sep 30. Am J Med Genet A. 2011. PMID: 21964978 Free PMC article.

4

Cono-spondylar dysplasia: clinical, radiographic, and molecular findings of a previously unreported disorder.

Ben-Omran T, Lakhani S, Almureikhi M, Ali R, Takahashi A, Miyake N, Matsumoto N, Ikegawa S, Superti-Furga A, Unger S. Ben-Omran T, et al. Among authors: almureikhi m. Am J Med Genet A. 2014 Sep;164A(9):2147-52. doi: 10.1002/ajmg.a.36632. Epub 2014 Jun 26. Am J Med Genet A. 2014. PMID: 24975242

5

High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders.

Yavarna T, Al-Dewik N, Al-Mureikhi M, Ali R, Al-Mesaifri F, Mahmoud L, Shahbeck N, Lakhani S, AlMulla M, Nawaz Z, Vitazka P, Alkuraya FS, Ben-Omran T. Yavarna T, et al. Hum Genet. 2015 Sep;134(9):967-80. doi: 10.1007/s00439-015-1575-0. Epub 2015 Jun 16. Hum Genet. 2015. PMID: 26077850

6

A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type.

Faiyaz-Ul-Haque M, Zaidi SH, Al-Ali M, Al-Mureikhi MS, Kennedy S, Al-Thani G, Tsui LC, Teebi AS. Faiyaz-Ul-Haque M, et al. Am J Med Genet A. 2004 Jul 1;128A(1):39-45. doi: 10.1002/ajmg.a.30005. Am J Med Genet A. 2004. PMID: 15211654

7

Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.

Marin-Valencia I, Gerondopoulos A, Zaki MS, Ben-Omran T, Almureikhi M, Demir E, Guemez-Gamboa A, Gregor A, Issa MY, Appelhof B, Roosing S, Musaev D, Rosti B, Wirth S, Stanley V, Baas F, Barr FA, Gleeson JG. Marin-Valencia I, et al. Among authors: almureikhi m. Am J Hum Genet. 2017 Sep 7;101(3):441-450. doi: 10.1016/j.ajhg.2017.07.015. Epub 2017 Aug 17. Am J Hum Genet. 2017. PMID: 28823706 Free PMC article.

8

Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience.

Al-Dewik N, Mohd H, Al-Mureikhi M, Ali R, Al-Mesaifri F, Mahmoud L, Shahbeck N, El-Akouri K, Almulla M, Al Sulaiman R, Musa S, Al-Marri AA, Richard G, Juusola J, Solomon BD, Alkuraya FS, Ben-Omran T. Al-Dewik N, et al. Am J Med Genet A. 2019 Jun;179(6):927-935. doi: 10.1002/ajmg.a.61126. Epub 2019 Mar 27. Am J Med Genet A. 2019. PMID: 30919572 Free PMC article.

9

A founder RAB27A variant causes Griscelli syndrome type 2 with phenotypic heterogeneity in Qatari families.

Al-Sulaiman R, Othman A, El-Akouri K, Fareed S, AlMulla H, Sukik A, Al-Mureikhi M, Shahbeck N, Ali R, Al-Mesaifri F, Musa S, Al-Mulla M, Ibrahim K, Mohamed K, Al-Nesef MA, Ehlayel M, Ben-Omran T. Al-Sulaiman R, et al. Am J Med Genet A. 2020 Nov;182(11):2570-2580. doi: 10.1002/ajmg.a.61829. Epub 2020 Aug 28. Am J Med Genet A. 2020. PMID: 32856792

10

Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle-Eastern origin.

Balobaid A, Ben-Omran T, Ramzan K, Altassan R, Almureikhi M, Musa S, Al-Hashmi N, Al-Owain M, Al-Zaidan H, Al-Hassnan Z, Imtiaz F, Al-Sayed M. Balobaid A, et al. Among authors: almureikhi m. Am J Med Genet A. 2018 Dec;176(12):2850-2857. doi: 10.1002/ajmg.a.40627. Epub 2018 Oct 22. Am J Med Genet A. 2018. PMID: 30345601

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