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Items: 9

1.

Intrinsic Resistance to Immune Checkpoint Blockade in a Mismatch Repair-Deficient Colorectal Cancer.

Gurjao C, Liu D, Hofree M, AlDubayan SH, Wakiro I, Su MJ, Felt K, Gjini E, Brais LK, Rotem A, Rosenthal MH, Rozenblatt-Rosen O, Rodig S, Ng K, Van Allen EM, Corsello SM, Ogino S, Regev A, Nowak JA, Giannakis M.

Cancer Immunol Res. 2019 Aug;7(8):1230-1236. doi: 10.1158/2326-6066.CIR-18-0683. Epub 2019 Jun 19.

PMID:
31217164
2.

Association of Inherited Pathogenic Variants in Checkpoint Kinase 2 (CHEK2) With Susceptibility to Testicular Germ Cell Tumors.

AlDubayan SH, Pyle LC, Gamulin M, Kulis T, Moore ND, Taylor-Weiner A, Hamid AA, Reardon B, Wubbenhorst B, Godse R, Vaughn DJ, Jacobs LA, Meien S, Grgic M, Kastelan Z, Markt SC, Damrauer SM, Rader DJ, Kember RL, Loud JT, Kanetsky PA, Greene MH, Sweeney CJ, Kubisch C, Nathanson KL, Van Allen EM, Stewart DR, Lessel D; Regeneron Genetics Center (RGC) Research Team.

JAMA Oncol. 2019 Apr 1;5(4):514-522. doi: 10.1001/jamaoncol.2018.6477.

PMID:
30676620
3.

The many faces of peroxisomal disorders: Lessons from a large Arab cohort.

Alshenaifi J, Ewida N, Anazi S, Shamseldin HE, Patel N, Maddirevula S, Al-Sheddi T, Alomar R, Alobeid E, Ibrahim N, Hashem M, Abdulwahab F, Jacob M, Alhashem A, Alzaidan HI, Seidahmed MZ, Alhashemi N, Rawashdeh R, Eyaid W, Al-Hassnan ZN, Rahbeeni Z, Alswaid A, Hadid A, Qari A, Mohammed DA, El Khashab HY, Alfadhel M, Abanemai M, Sunbul R, Al Tala S, Alkhalifi S, Alkharfi T, Abouelhoda M, Monies D, Al Tassan N, AlDubayan SH, Kurdi W, Al-Owain M, Dasouki MJ, Kentab AY, Atyani S, Makhseed N, Faqeih E, Shaheen R, Alkuraya FS.

Clin Genet. 2019 Feb;95(2):310-319. doi: 10.1111/cge.13481. Epub 2018 Dec 18.

PMID:
30561787
4.

Inherited DNA-Repair Defects in Colorectal Cancer.

AlDubayan SH, Giannakis M, Moore ND, Han GC, Reardon B, Hamada T, Mu XJ, Nishihara R, Qian Z, Liu L, Yurgelun MB, Syngal S, Garraway LA, Ogino S, Fuchs CS, Van Allen EM.

Am J Hum Genet. 2018 Mar 1;102(3):401-414. doi: 10.1016/j.ajhg.2018.01.018. Epub 2018 Feb 22.

5.

Acute Illness Protocol for Urea Cycle Disorders.

Rodan LH, Aldubayan SH, Berry GT, Levy HL.

Pediatr Emerg Care. 2018 Jun;34(6):e115-e119. doi: 10.1097/PEC.0000000000001298.

PMID:
29135898
6.

Acute Illness Protocol for Maple Syrup Urine Disease.

Rodan LH, Aldubayan SH, Berry GT, Levy HL.

Pediatr Emerg Care. 2018 Jan;34(1):64-67. doi: 10.1097/PEC.0000000000001299.

PMID:
29095391
7.

Acute Illness Protocol for Fatty Acid Oxidation and Carnitine Disorders.

Aldubayan SH, Rodan LH, Berry GT, Levy HL.

Pediatr Emerg Care. 2017 Apr;33(4):296-301. doi: 10.1097/PEC.0000000000001093.

PMID:
28353532
8.

Acute Illness Protocol for Organic Acidemias: Methylmalonic Acidemia and Propionic Acidemia.

Aldubayan SH, Rodan LH, Berry GT, Levy HL.

Pediatr Emerg Care. 2017 Feb;33(2):142-146. doi: 10.1097/PEC.0000000000001028.

PMID:
28141776
9.

The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys-Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD).

Lerner-Ellis JP, Aldubayan SH, Hernandez AL, Kelly MA, Stuenkel AJ, Walsh J, Joshi VA.

Mol Genet Metab. 2014 Jun;112(2):171-6. doi: 10.1016/j.ymgme.2014.03.011. Epub 2014 Apr 2.

PMID:
24793577

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