Al-Alami J - Search Results

1

A novel mutation of IL1RN in the deficiency of interleukin-1 receptor antagonist syndrome: description of two unrelated cases from Brazil.

Jesus AA, Osman M, Silva CA, Kim PW, Pham TH, Gadina M, Yang B, Bertola DR, Carneiro-Sampaio M, Ferguson PJ, Renshaw BR, Schooley K, Brown M, Al-Dosari A, Al-Alami J, Sims JE, Goldbach-Mansky R, El-Shanti H. Jesus AA, et al. Among authors: al alami j. Arthritis Rheum. 2011 Dec;63(12):4007-17. doi: 10.1002/art.30588. Arthritis Rheum. 2011. PMID: 22127713 Free PMC article.

2

The pattern of peripheral blood chromosomal abnormalities in Northern Jordan.

El-Shanti H, Al-Alami J. El-Shanti H, et al. Among authors: al alami j. Saudi Med J. 2002 Dec;23(12):1552-4. Saudi Med J. 2002. PMID: 12518216 No abstract available.

3

Homozygous AMN mutation in hereditary selective intestinal malabsorption of vitamin B12 in Jordan.

Al-Alami JR, Tanner SM, Tayeh MK, de la Chapelle A, El-Shanti H. Al-Alami JR, et al. Saudi Med J. 2005 Jul;26(7):1061-4. Saudi Med J. 2005. PMID: 16047053

4

Linkage analysis of a large inbred family with congenital megaloblastic anemia.

Al-Alami JR, Tayeh MK, Al-Sheyyab MY, El-Shanti HI. Al-Alami JR, et al. Saudi Med J. 2002 Oct;23(10):1251-6. Saudi Med J. 2002. PMID: 12436132

5

Familial Mediterranean fever mutation frequencies and carrier rates among a mixed Arabic population.

Al-Alami JR, Tayeh MK, Najib DA, Abu-Rubaiha ZA, Majeed HA, Al-Khateeb MS, El-Shanti HI. Al-Alami JR, et al. Saudi Med J. 2003 Oct;24(10):1055-9. Saudi Med J. 2003. PMID: 14578967

6

Fine mapping of progressive pseudorheumatoid dysplasia: a tool for heterozygote identification.

Alkhateeb A, al-Alami J, Leal SM, el-Shanti H. Alkhateeb A, et al. Genet Test. 1999;3(4):329-33. doi: 10.1089/gte.1999.3.329. Genet Test. 1999. PMID: 10627939 Free PMC article.

7

Assignment of gene responsible for progressive pseudorheumatoid dysplasia to chromosome 6 and examination of COL10A1 as candidate gene.

el-Shanti H, Murray JC, Semina EV, Beutow KH, Scherpbier T, al-Alami J. el-Shanti H, et al. Eur J Hum Genet. 1998 May-Jun;6(3):251-6. doi: 10.1038/sj.ejhg.5200187. Eur J Hum Genet. 1998. PMID: 9781029

8

Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy.

Kambouris M, Thevenon J, Soldatos A, Cox A, Stephen J, Ben-Omran T, Al-Sarraj Y, Boulos H, Bone W, Mullikin JC; NISC Comparative Sequencing Program; Masurel-Paulet A, St-Onge J, Dufford Y, Chantegret C, Thauvin-Robinet C, Al-Alami J, Faivre L, Riviere JB, Gahl WA, Bassuk AG, Malicdan MC, El-Shanti H. Kambouris M, et al. Among authors: al alami j. Ann Clin Transl Neurol. 2016 Dec 20;4(1):26-35. doi: 10.1002/acn3.372. eCollection 2017 Jan. Ann Clin Transl Neurol. 2016. PMID: 28078312 Free PMC article.

9

Bcl-2 gene rearrangement in Jordanian follicular and diffuse large B-cell lymphomas.

Almasri NM, Al-Alami J, Faza M. Almasri NM, et al. Among authors: al alami j. Saudi Med J. 2005 Feb;26(2):251-5. Saudi Med J. 2005. PMID: 15770300

10

Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.

Hurvitz JR, Suwairi WM, Van Hul W, El-Shanti H, Superti-Furga A, Roudier J, Holderbaum D, Pauli RM, Herd JK, Van Hul EV, Rezai-Delui H, Legius E, Le Merrer M, Al-Alami J, Bahabri SA, Warman ML. Hurvitz JR, et al. Nat Genet. 1999 Sep;23(1):94-8. doi: 10.1038/12699. Nat Genet. 1999. PMID: 10471507

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