Nadirah Damseh
Overview
Explore the profile of Nadirah Damseh including associated specialties, affiliations and a list of published articles.
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14
Citations
119
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Recent Articles
1.
Hodrob T, Abusalameh A, Ismail I, Dweikat I, Rmeilah S, Sultan M, et al.
Clin Genet
. 2024 Nov;
107(3):335-340.
PMID: 39548873
This study aims to investigate the clinical, biochemical, and genetic characteristics of Fanconi-Bickel syndrome (FBS) in a cohort of 20 individuals from Palestine and to identify novel pathogenic variants. A...
2.
Layo-Carris D, Lubin E, Sangree A, Clark K, Durham E, Gonzalez E, et al.
Eur J Hum Genet
. 2024 Jul;
32(8):1032.
PMID: 39060653
No abstract available.
3.
Layo-Carris D, Lubin E, Sangree A, Clark K, Durham E, Gonzalez E, et al.
Eur J Hum Genet
. 2024 Apr;
32(8):928-937.
PMID: 38678163
Bryant-Li-Bhoj syndrome (BLBS), which became OMIM-classified in 2022 (OMIM: 619720, 619721), is caused by germline variants in the two genes that encode histone H3.3 (H3-3A/H3F3A and H3-3B/H3F3B) [1-4]. This syndrome...
4.
Lin X, Wang W, Yang M, Damseh N, de Sousa M, Jacob F, et al.
Genome Biol
. 2023 Sep;
24(1):216.
PMID: 37773136
Background: Oxidation Resistance 1 (OXR1) gene is a highly conserved gene of the TLDc domain-containing family. OXR1 is involved in fundamental biological and cellular processes, including DNA damage response, antioxidant...
5.
Shieh J, Tintos-Hernandez J, Murali C, Penon-Portmann M, Flores-Mendez M, Santana A, et al.
HGG Adv
. 2023 Sep;
4(4):100236.
PMID: 37660254
Ferritin, the iron-storage protein, is composed of light- and heavy-chain subunits, encoded by FTL and FTH1, respectively. Heterozygous variants in FTL cause hereditary neuroferritinopathy, a type of neurodegeneration with brain...
6.
Sczakiel H, Zhao M, Wollert-Wulf B, Danyel M, Ehmke N, Stoltenburg C, et al.
Eur J Hum Genet
. 2023 May;
31(8):905-917.
PMID: 37188825
FINCA syndrome [MIM: 618278] is an autosomal recessive multisystem disorder characterized by fibrosis, neurodegeneration and cerebral angiomatosis. To date, 13 patients from nine families with biallelic NHLRC2 variants have been...
7.
Shieh J, Tintos-Hernandez J, Murali C, Penon-Portmann M, Flores-Mendez M, Santana A, et al.
medRxiv
. 2023 Feb;
PMID: 36778397
Ferritin, the iron storage protein, is composed of light and heavy chain subunits, encoded by and , respectively. Heterozygous variants in cause hereditary neuroferritinopathy, a type of neurodegeneration with brain...
8.
Hartley T, Soubry E, Acker M, Osmond M, Couse M, Gillespie M, et al.
Clin Genet
. 2022 Nov;
103(3):288-300.
PMID: 36353900
We examined the utility of clinical and research processes in the reanalysis of publicly-funded clinical exome sequencing data in Ontario, Canada. In partnership with eight sites, we recruited 287 families...
9.
Damseh N, Dupuis L, OConnor C, Oh R, Wang Y, Stavropoulos D, et al.
Am J Med Genet A
. 2022 Feb;
188(5):1376-1383.
PMID: 35128800
Ehlers-Danlos syndrome (EDS) is a heterogeneous group of connective tissue disorders characterized by hyperextensible skin, hypermobile joints, easy bruisability, and fragility of the connective tissues. The diagnosis is based on...
10.
Damseh N, Stimec J, OBrien A, Marshall C, Savarirayan R, Jawad A, et al.
Orphanet J Rare Dis
. 2019 Jun;
14(1):156.
PMID: 31248428
Background: Familial digital arthropathy-brachydactyly (FDAB) and Thiemann disease are non-inflammatory digital arthropathies with many phenotypic similarities. Thirty-three cases of Thiemann disease have been described so far (Mangat et al, Ann...