Alia M Albalawi
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Explore the profile of Alia M Albalawi including associated specialties, affiliations and a list of published articles.
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Articles
22
Citations
133
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Recent Articles
1.
Alayoubi A, Alfadhli F, Mehnaz , Albalawi A, Ramzan K, Jelani M, et al.
Sci Rep
. 2024 Oct;
14(1):25291.
PMID: 39455833
Cerebellar vermis hypoplasia refers to a varying degree of incomplete development of the cerebellum and vermis. A Saudi family with four affected individuals with cerebellar vermis hypoplasia, facial dysmorphology, visual...
2.
Rafiullah R, Albalawi A, Alaradi S, Alluqmani M, Mushtaq M, Wali A, et al.
J Neurogenet
. 2022 Dec;
36(4):108-114.
PMID: 36508181
Global developmental delay (GDD) is a lifelong disability that affects 1-3% of the population around the globe. It is phenotypically variable and highly heterogeneous in terms of the underlying genetics....
3.
Ullah A, Shah A, Alluqmani M, Haider N, Aman H, Alfadhli F, et al.
Int J Dev Neurosci
. 2022 Oct;
82(8):789-805.
PMID: 36181241
Neurodevelopmental disorders (NDDs) are heterogeneous genetic conditions of the central nervous system (CNS). Primary phenotypes of NDDs include epilepsy, loss of developmental skills, abnormal movements, muscle weakness, ocular anomalies, hearing...
4.
Albalawi A, Hashmi J, Alfadhli F, Almatrafi A, Ramzan K, Basit S
Ann Dermatol
. 2021 Apr;
32(1):77-80.
PMID: 33911714
No abstract available.
5.
Alharbi A, Hashmi J, Alharby E, Albalawi A, Ramzan K, Basit S
Hematol Oncol Stem Cell Ther
. 2021 Feb;
15(1):21-26.
PMID: 33600779
Glanzmann's thrombasthenia (GT) is an autosomal recessive congenital bleeding disorder of platelet aggregation. Mutations in ITGA2B and ITGB3 genes result in quantitative and/or qualitative abnormalities of the glycoprotein receptor complex...
6.
Albarry M, Latif M, Alreheli A, Awadh M, Almatrafi A, Albalawi A, et al.
PLoS One
. 2021 Feb;
16(2):e0246607.
PMID: 33571247
Waardenburg syndrome (WS) is a hereditary disorder affecting the auditory system and pigmentation of hair, eyes, and skin. Different variants of the disease exist with the involvement of mutation in...
7.
Albalawi A, Al-Barry M
Int Ophthalmol
. 2020 Sep;
40(11):3175-3186.
PMID: 32974831
Purpose: Vogt-Koyanagi-Harada (VKH) disease is a rare autoimmune disease. The autoimmune response in VKH disease is against the melanin-producing cells; therefore, in affected individuals melanocyte-containing organs manifest disease symptoms including...
8.
Alharby E, Bakhsh M, Albalawi A, Almutairi S, Hashmi J, Basit S
Platelets
. 2020 Jul;
31(5):646-651.
PMID: 32609603
Inherited platelet function disorder-18 (IPD-18) is a relatively new non-syndromic autosomal recessive bleeding disorder. It is characterized by deficient or dysfunctional CalDAG-GEFI protein. The distinctive feature of the disease is...
9.
Almatrafi A, Umair M, Eldardear A, Al-Luqmani M, Hashmi J, Albalawi A, et al.
J Gene Med
. 2020 Apr;
22(8):e3196.
PMID: 32246862
Background: Progressive spastic ataxia is a heterogeneous disorder characterized by cerebellar ataxia and limb spasticity associated with other severe neurological complications. Spastic ataxia is classified into pure and complex types,...
10.
Albarry M, Alreheli A, Albalawi A, Basit S
Saudi J Ophthalmol
. 2020 Jan;
33(4):326-331.
PMID: 31920441
Objectives: Waardenburg syndrome is a rare genetic disorder. It is characterized by sensorineural hearing impairment and pigment defects of the skin, hair and iris. In some cases abnormalities in the...