Al-Harbi N - Search Results

1

A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families.

Al-Hamed MH, Al-Sabban E, Al-Mojalli H, Al-Harbi N, Faqeih E, Al Shaya H, Alhasan K, Al-Hissi S, Rajab M, Edwards N, Al-Abbad A, Al-Hassoun I, Sayer JA, Meyer BF. Al-Hamed MH, et al. J Hum Genet. 2013 Jul;58(7):480-9. doi: 10.1038/jhg.2013.27. Epub 2013 Apr 18. J Hum Genet. 2013. PMID: 23595123

2

Hyperglycemia and hypoinsulinemia in patients with Fanconi-Bickel syndrome.

Taha D, Al-Harbi N, Al-Sabban E. Taha D, et al. J Pediatr Endocrinol Metab. 2008 Jun;21(6):581-6. J Pediatr Endocrinol Metab. 2008. PMID: 18717244

3

Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update.

Maddirevula S, Shamseldin HE, Sirr A, AlAbdi L, Lo RS, Ewida N, Al-Qahtani M, Hashem M, Abdulwahab F, Aboyousef O, Kaya N, Monies D, Salem MH, Al Harbi N, Aldhalaan HM, Alzaidan H, Almanea HM, Alsalamah AK, Al Mutairi F, Ismail S, Abdel-Salam GMH, Alhashem A, Asery A, Faqeih E, AlQassmi A, Al-Hamoudi W, Algoufi T, Shagrani M, Dudley AM, Alkuraya FS. Maddirevula S, et al. Front Genet. 2020 Dec 31;11:580484. doi: 10.3389/fgene.2020.580484. eCollection 2020. Front Genet. 2020. PMID: 33456446 Free PMC article.

4

[No title available]

[No authors listed] [No authors listed] PMID: 33600694

5

Insight into prevalence, etiology, and modalities of pediatric chronic dialysis: a comprehensive nationwide analysis.

Alhasan K, Alsalmi AA, Almaiman W, Al Herbish AJ, Farhat A, Sandokji I, Aloufi M, Faqeehi HY, Abdulmajeed N, Alanazi A, AlHassan A, Alshathri A, Almalki AM, Bafageeh AA, Aldajani AM, AlMuzain A, Almuteri FS, Nasser HH, Al Alsheikh K, Almokali KM, Maghfuri M, Abukhatwah MW, Ahmed MAM, Fatani N, Al-Harbi N, AlDhaferi RF, Amohaimeed S, AlSannaa ZH, Shalaby MA, Raina R, Broering DC, Kari JA, Temsah MH. Alhasan K, et al. Among authors: al harbi n. Pediatr Nephrol. 2024 May;39(5):1559-1566. doi: 10.1007/s00467-023-06245-w. Epub 2023 Dec 13. Pediatr Nephrol. 2024. PMID: 38091245

6

Congenital insensitivity to pain in four related Saudi families.

Karkashan EM, Joharji HS, Al-Harbi NN. Karkashan EM, et al. Pediatr Dermatol. 2002 Jul-Aug;19(4):333-5. doi: 10.1046/j.1525-1470.2002.00095.x. Pediatr Dermatol. 2002. PMID: 12220280

7

Arthrogryposis, renal tubular acidosis and cholestasis (ARC) syndrome: two new cases and review.

Abu-Sa'da O, Barbar M, Al-Harbi N, Taha D. Abu-Sa'da O, et al. Clin Dysmorphol. 2005 Oct;14(4):191-196. Clin Dysmorphol. 2005. PMID: 16155421 Review.

8

Next-generation sequencing for molecular diagnosis of autosomal recessive polycystic kidney disease.

Edrees BM, Athar M, Al-Allaf FA, Taher MM, Khan W, Bouazzaoui A, Al-Harbi N, Safar R, Al-Edressi H, Alansary K, Anazi A, Altayeb N, Ahmed MA, Abduljaleel Z. Edrees BM, et al. Gene. 2016 Oct 10;591(1):214-226. doi: 10.1016/j.gene.2016.07.021. Epub 2016 Jul 9. Gene. 2016. PMID: 27401137

9

Functional alterations due to amino acid changes and evolutionary comparative analysis of ARPKD and ADPKD genes.

Edrees BM, Athar M, Abduljaleel Z, Al-Allaf FA, Taher MM, Khan W, Bouazzaoui A, Al-Harbi N, Safar R, Al-Edressi H, Alansary K, Anazi A, Altayeb N, Ahmed MA. Edrees BM, et al. Genom Data. 2016 Nov 3;10:127-134. doi: 10.1016/j.gdata.2016.10.009. eCollection 2016 Dec. Genom Data. 2016. PMID: 27843768 Free PMC article.

10

Apparent Mineralocorticoid Excess Caused by a Novel Mutation in 11-β Hydroxysteroid Dehydrogenase Type 2 Enzyme: Its Genetics and Response to Therapy.

Alzahrani AS, Aljuhani N, Qasem E, Almohanna M, Hamoudh E, AlOmair A, Alharbi N. Alzahrani AS, et al. Endocr Pract. 2014 Sep;20(9):e151-6. doi: 10.4158/EP14094.CR. Endocr Pract. 2014. PMID: 24936560

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