Nadia Alhashmi
Overview
Explore the profile of Nadia Alhashmi including associated specialties, affiliations and a list of published articles.
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Articles
10
Citations
439
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0
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Recent Articles
1.
Donis R, Al Badi M, Alhashmi N, Hattersley A, Flanagan S, De Franco E
J Diabetes Investig
. 2025 Mar;
PMID: 40062559
Neonatal diabetes mellitus (NDM) is a monogenic condition diagnosed <6 months of age with >40 genetic causes. International guidelines recommend referral for genetic testing immediately after diagnosis since the genetic...
2.
Akinci G, Alyaarubi S, Patni N, Alhashmi N, Al-Shidhani A, Prodam F, et al.
Am J Med Genet A
. 2024 Jan;
194(6):e63533.
PMID: 38234231
Morbidity and mortality rates in patients with autosomal recessive, congenital generalized lipodystrophy type 4 (CGL4), an ultra-rare disorder, remain unclear. We report on 30 females and 16 males from 10...
3.
Alawbathani S, Westenberger A, Ordonez-Herrera N, Al-Hilali M, Al Hebby H, Alabbas F, et al.
Clin Genet
. 2021 Oct;
101(2):247-254.
PMID: 34708404
Biallelic changes in the ZNFX1 gene have been recently reported to cause severe familial immunodeficiency. Through a search of our bio/databank with information from genetic testing of >55 000 individuals,...
4.
Beetz C, Westenberger A, Al-Ali R, Ameziane N, Alhashmi N, Boustany R, et al.
Mov Disord
. 2021 Jan;
36(4):1029-1031.
PMID: 33433017
No abstract available.
5.
Efthymiou S, Salpietro V, Malintan N, Poncelet M, Kriouile Y, Fortuna S, et al.
Brain
. 2019 Sep;
142(10):2948-2964.
PMID: 31501903
Axon pathfinding and synapse formation are essential processes for nervous system development and function. The assembly of myelinated fibres and nodes of Ranvier is mediated by a number of cell...
6.
Maddirevula S, Alsahli S, Alhabeeb L, Patel N, Alzahrani F, Shamseldin H, et al.
Genet Med
. 2018 Apr;
20(12):1609-1616.
PMID: 29620724
Purpose: To describe our experience with a large cohort (411 patients from 288 families) of various forms of skeletal dysplasia who were molecularly characterized. Methods: Detailed phenotyping and next-generation sequencing...
7.
Anazi S, Maddirevula S, Salpietro V, Asi Y, Alsahli S, Alhashem A, et al.
Hum Genet
. 2017 Dec;
137(1):105-109.
PMID: 29288388
Variant nomenclature discrepancy was identified in the article.
8.
Anazi S, Maddirevula S, Salpietro V, Asi Y, Alsahli S, Alhashem A, et al.
Hum Genet
. 2017 Sep;
136(11-12):1419-1429.
PMID: 28940097
Intellectual disability (ID) is a common morbid condition with a wide range of etiologies. The list of monogenic forms of ID has increased rapidly in recent years thanks to the...
9.
Shaheen R, AlAzami A, Alshammari M, Faqeih E, Alhashmi N, Mousa N, et al.
J Med Genet
. 2012 Oct;
49(10):630-5.
PMID: 23054245
Background: Osteogenesis imperfecta (OI) is an hereditary bone disease in which increased bone fragility leads to frequent fractures and other complications, usually in an autosomal dominant fashion. An expanding list...
10.
Khalifa O, Rahbeeni Z, Alhashmi N, Almane K
Clin Dysmorphol
. 2011 Nov;
21(2):77-79.
PMID: 22123492
No abstract available.