Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

43 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability.
Amin M, Vignal C, Eltaraifee E, Mohammed IN, Hamed AAA, Elseed MA, Babai A, Elbadi I, Mustafa D, Abubaker R, Mustafa M, Drunat S, Elsayed LEO, Ahmed AE, Boespflug-Tanguy O, Dorboz I. Amin M, et al. Among authors: dorboz i. BMC Med Genomics. 2022 Nov 8;15(1):236. doi: 10.1186/s12920-022-01354-1. BMC Med Genomics. 2022. PMID: 36348459 Free PMC article.
Novel variants causing megalencephalic leukodystrophy in Sudanese families.
Amin M, Vignal C, Hamed AAA, Mohammed IN, Elseed MA, Drunat S, Babai A, Eltaraifee E, Elbadi I, Abubaker R, Mustafa D, Yahia A, Koko M, Osman M, Bakhit Y, Elshafea A, Alsiddig M, Haroun S, Lelay G, Elsayed LEO, Ahmed AE, Boespflug-Tanguy O, Dorboz I. Amin M, et al. Among authors: dorboz i. J Hum Genet. 2022 Mar;67(3):127-132. doi: 10.1038/s10038-021-00945-7. Epub 2021 Sep 10. J Hum Genet. 2022. PMID: 34504271
Case Report: A New Family With Pontocerebellar Hypoplasia 10 From Sudan.
Amin M, Vignal C, Hamed AAA, Mohammed IN, Elseed MA, Abubaker R, Bakhit Y, Babai A, Elbadi E, Eltaraifee E, Mustafa D, Yahia A, Osman M, Koko M, Mustafa M, Alsiddig M, Haroun S, Elshafea A, Drunat S, Elsayed LEO, Ahmed AE, Boespflug-Tanguy O, Dorboz I. Amin M, et al. Among authors: dorboz i. Front Genet. 2022 Jun 2;13:883211. doi: 10.3389/fgene.2022.883211. eCollection 2022. Front Genet. 2022. PMID: 35719383 Free PMC article.
Mutation in the AGK gene in two siblings with unusual Sengers syndrome.
Allali S, Dorboz I, Samaan S, Slama A, Rambaud C, Boespflug-Tanguy O, Sarret C. Allali S, et al. Among authors: dorboz i. Metab Brain Dis. 2017 Dec;32(6):2149-2154. doi: 10.1007/s11011-017-0101-6. Epub 2017 Sep 3. Metab Brain Dis. 2017. PMID: 28868593
Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease.
Masliah-Planchon J, Dupont C, Vartzelis G, Trimouille A, Eymard-Pierre E, Gay-Bellile M, Renaldo F, Dorboz I, Pagan C, Quentin S, Elmaleh M, Kotsogianni C, Konstantelou E, Drunat S, Tabet AC, Boespflug-Tanguy O. Masliah-Planchon J, et al. Among authors: dorboz i. BMC Med Genet. 2015 Sep 2;16:77. doi: 10.1186/s12881-015-0226-6. BMC Med Genet. 2015. PMID: 26329556 Free PMC article.
43 results