Jamuar SS - Search Results

1

RETINITIS PIGMENTOSA ASSOCIATED WITH THE EYS C2139Y VARIANT : An Important Cause of Blindness in East Asian Populations.

Chan CM, Tan TE, Jain K, Bylstra Y, Mathur RS, Tang RWC, Lee BJH, Jamuar SS, Kam S, Vithana EN, Lim WK, Fenner BJ. Chan CM, et al. Among authors: jamuar ss. Retina. 2023 Oct 1;43(10):1788-1796. doi: 10.1097/IAE.0000000000003874. Retina. 2023. PMID: 37418643

2

Amelioration of oxidative stress in red blood cells from patients with beta-thalassemia major and intermedia and E-beta-thalassemia following administration of a fermented papaya preparation.

Fibach E, Tan ES, Jamuar S, Ng I, Amer J, Rachmilewitz EA. Fibach E, et al. Phytother Res. 2010 Sep;24(9):1334-8. doi: 10.1002/ptr.3116. Phytother Res. 2010. PMID: 20127662 Clinical Trial.

3

Safety and efficacy of iron chelation therapy with deferiprone in patients with transfusion-dependent thalassemia.

Jamuar SS, Lai AH. Jamuar SS, et al. Ther Adv Hematol. 2012 Oct;3(5):299-307. doi: 10.1177/2040620712450252. Ther Adv Hematol. 2012. PMID: 23616917 Free PMC article.

4

Somatic mutations in cerebral cortical malformations.

Jamuar SS, Walsh CA. Jamuar SS, et al. N Engl J Med. 2014 Nov 20;371(21):2038. doi: 10.1056/NEJMc1411784. N Engl J Med. 2014. PMID: 25409382 No abstract available.

5

Design and simulation of pseudo-resistor with extremely high linearity for an improved neural signal recording.

Sharma K, Jamuar SS, Sharma R. Sharma K, et al. Among authors: jamuar ss. Rev Sci Instrum. 2020 Jun 1;91(6):066102. doi: 10.1063/1.5125409. Rev Sci Instrum. 2020. PMID: 32611068

6

Somatic mutations in cerebral cortical malformations.

Jamuar SS, Lam AT, Kircher M, D'Gama AM, Wang J, Barry BJ, Zhang X, Hill RS, Partlow JN, Rozzo A, Servattalab S, Mehta BK, Topcu M, Amrom D, Andermann E, Dan B, Parrini E, Guerrini R, Scheffer IE, Berkovic SF, Leventer RJ, Shen Y, Wu BL, Barkovich AJ, Sahin M, Chang BS, Bamshad M, Nickerson DA, Shendure J, Poduri A, Yu TW, Walsh CA. Jamuar SS, et al. N Engl J Med. 2014 Aug 21;371(8):733-43. doi: 10.1056/NEJMoa1314432. N Engl J Med. 2014. PMID: 25140959 Free PMC article.

7

Clinical and radiological findings in Pallister-Killian syndrome.

Jamuar S, Lai A, Unger S, Nishimura G. Jamuar S, et al. Eur J Med Genet. 2012 Mar;55(3):167-72. doi: 10.1016/j.ejmg.2012.01.019. Epub 2012 Feb 10. Eur J Med Genet. 2012. PMID: 22387057

8

Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey.

van Wegberg AMJ, Trefz F, Gizewska M, Ahmed S, Chabraoui L, Zaki MS, Maillot F, van Spronsen FJ; Study Group on Missed PKU and Missed to Follow-Up. van Wegberg AMJ, et al. J Pediatr. 2021 Dec;239:231-234.e2. doi: 10.1016/j.jpeds.2021.08.070. Epub 2021 Aug 30. J Pediatr. 2021. PMID: 34474089 Free article.

9

Rhabdomyolysis, acute renal failure, and cardiac arrest secondary to status dystonicus in a child with glutaric aciduria type I.

Jamuar SS, Newton SA, Prabhu SP, Hecht L, Costas KC, Wessel AE, Harris DJ, Anselm I, Berry GT. Jamuar SS, et al. Mol Genet Metab. 2012 Aug;106(4):488-90. doi: 10.1016/j.ymgme.2012.05.018. Epub 2012 May 30. Mol Genet Metab. 2012. PMID: 22771013

10

Deletion of chromosome 8q22.1, a critical region for Nablus mask-like facial syndrome: four additional cases support a role of genetic modifiers in the manifestation of the phenotype.

Jamuar SS, Duzkale H, Duzkale N, Zhang C, High FA, Kaban L, Bhattacharya S, Crandall B, Kantarci S, Stoler JM, Lin AE. Jamuar SS, et al. Am J Med Genet A. 2015 Jun;167(6):1400-5. doi: 10.1002/ajmg.a.36848. Epub 2015 Apr 2. Am J Med Genet A. 2015. PMID: 25846266 No abstract available.

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