Kamal NM - Search Results

1

First report of SYNE1 arthrogryposis multiplex congenita from Saudi Arabia with a novel mutation: a case report.

Kamal NM, Alzeky AM, Omair MR, Attar RA, Alotaibi AM, Safar A, Alosaimi NS, Abosabie SAS. Kamal NM, et al. Ital J Pediatr. 2022 Jun 23;48(1):107. doi: 10.1186/s13052-022-01301-x. Ital J Pediatr. 2022. PMID: 35739559 Free PMC article.

2

A case report of biotin-thiamine-responsive basal ganglia disease in a Saudi child: Is extended genetic family study recommended?

Aljabri MF, Kamal NM, Arif M, AlQaedi AM, Santali EYM. Aljabri MF, et al. Among authors: kamal nm. Medicine (Baltimore). 2016 Oct;95(40):e4819. doi: 10.1097/MD.0000000000004819. Medicine (Baltimore). 2016. PMID: 27749535 Free PMC article.

3

A randomized clinical trial comparing 3 different replacement regimens of vitamin D in clinically asymptomatic pediatrics and adolescents with vitamin D insufficiency.

Talaat IM, Kamal NM, Alghamdi HA, Alharthi AA, Alshahrani MA. Talaat IM, et al. Among authors: kamal nm. Ital J Pediatr. 2016 Dec 7;42(1):106. doi: 10.1186/s13052-016-0314-z. Ital J Pediatr. 2016. PMID: 27927221 Free PMC article. Clinical Trial.

4

Idiopathic hypoparathyroidism with extensive intracranial calcification in children: First report from Saudi Arabia.

Kamal NM, Alghamdi HA, Halabi AA, Bakkar AA, Algarni A, Alharbi A, Alharthi AA, Alharbi RA, Sherief LM. Kamal NM, et al. Medicine (Baltimore). 2017 Apr;96(16):e6347. doi: 10.1097/MD.0000000000006347. Medicine (Baltimore). 2017. PMID: 28422826 Free PMC article.

5

Sotos syndrome: A case report of 1st genetically proven case from Saudi Arabia with a novel mutation in NSD1 gene.

Kamal NM, Althobiti JM, Alsaedi A, Bakkar A, Alkaabi T. Kamal NM, et al. Medicine (Baltimore). 2018 Nov;97(47):e12867. doi: 10.1097/MD.0000000000012867. Medicine (Baltimore). 2018. PMID: 30461603 Free PMC article.

6

Factor VIII inhibitor development in Egyptian hemophilia patients: does intron 22 inversion mutation play a role?

Sherief LM, Gaber OA, Youssef HM, Sherbiny HS, Mokhtar WA, Ali AAA, Kamal NM, Abdel Maksoud YH. Sherief LM, et al. Among authors: kamal nm. Ital J Pediatr. 2020 Sep 14;46(1):129. doi: 10.1186/s13052-020-00878-5. Ital J Pediatr. 2020. PMID: 32928254 Free PMC article.

7

Sjogren-Larsson Syndrome: A case series of five members from an extended family with a novel mutation.

Abidi KT, Kamal NM, Bakkar A AA, Alotaibi M, Asseri H, Bokari KA. Abidi KT, et al. Among authors: kamal nm. Mol Genet Genomic Med. 2020 Nov;8(11):e1487. doi: 10.1002/mgg3.1487. Epub 2020 Sep 15. Mol Genet Genomic Med. 2020. PMID: 32930514 Free PMC article.

8

Vici syndrome with pathogenic homozygous EPG5 gene mutation: A case report and literature review.

Abidi KT, Kamal NM, Bakkar AA, Almarri S, Abdullah R, Alsufyani M, Alharbi A. Abidi KT, et al. Among authors: kamal nm. Medicine (Baltimore). 2020 Oct 23;99(43):e22302. doi: 10.1097/MD.0000000000022302. Medicine (Baltimore). 2020. PMID: 33120733 Free PMC article. Review.

9

Favorable response to carbamazepine therapy in genetically proven myoclonus-dystonia child.

Aljabri MF, Kamal NM, Alghamdi A, Alghamdi H, Alomairi N. Aljabri MF, et al. Among authors: kamal nm. Ital J Pediatr. 2021 Feb 15;47(1):33. doi: 10.1186/s13052-021-00986-w. Ital J Pediatr. 2021. PMID: 33588860 Free PMC article.

10

Identification of a Rare Exon 19 Skipping Mutation in ALMS1 Gene in Alström Syndrome Patients From Two Unrelated Saudi Families.

Saadah OI, Banaganapalli B, Kamal NM, Sahly AN, Alsufyani HA, Mohammed A, Ahmad A, Nasser KK, Al-Aama JY, Shaik NA, Elango R. Saadah OI, et al. Among authors: kamal nm. Front Pediatr. 2021 Apr 26;9:652011. doi: 10.3389/fped.2021.652011. eCollection 2021. Front Pediatr. 2021. PMID: 33981653 Free PMC article.

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