Heba Y El Khashab
Overview
Explore the profile of Heba Y El Khashab including associated specialties, affiliations and a list of published articles.
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14
Citations
480
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Recent Articles
1.
Aldhilan A, Alhakeem A, Al Hajjaj S, Abukhalid M, Aldhalaan H, Salah E, et al.
Pediatr Neurol
. 2022 Jul;
134:78-82.
PMID: 35841715
Background: Hyperekplexia is a rare disorder characterized by exaggerated startle responses to unexpected sensory stimuli, recurrent apneas, and stiffness. Only few studies have been published on this disorder in populations...
2.
Bahbah W, ElHodhod M, Salah M, Alrefaee F, AlTuraiki M, Mousa S, et al.
Nutrients
. 2022 Mar;
14(5).
PMID: 35268042
Background: Cow's milk allergy (CMA) and cow's milk intolerance (CMI) are the major cow's milk disorders observed in infants and young children. This study investigates, for the first time, physician...
3.
Alshenaifi J, Ewida N, Anazi S, Shamseldin H, Patel N, Maddirevula S, et al.
Clin Genet
. 2018 Dec;
95(2):310-319.
PMID: 30561787
Defects in the peroxisomes biogenesis and/or function result in peroxisomal disorders. In this study, we describe the largest Arab cohort to date (72 families) of clinically, biochemically and molecularly characterized...
4.
Maddirevula S, Alzahrani F, Al-Owain M, Al Muhaizea M, Kayyali H, Alhashem A, et al.
Genet Med
. 2018 Sep;
21(3):736-742.
PMID: 30237576
Purpose: Establishing links between Mendelian phenotypes and genes enables the proper interpretation of variants therein. Autozygome, a rich source of homozygous variants, has been successfully utilized for the high throughput...
5.
Monies D, Abouelhoda M, AlSayed M, Alhassnan Z, Alotaibi M, Kayyali H, et al.
Hum Genet
. 2017 Jun;
136(8):921-939.
PMID: 28600779
In this study, we report the experience of the only reference clinical next-generation sequencing lab in Saudi Arabia with the first 1000 families who span a wide-range of suspected Mendelian...
6.
Moen M, Fjaer R, Hamdani E, Laerdahl J, Menchini R, Vigeland M, et al.
Brain
. 2016 Oct;
139(Pt 12):3109-3120.
PMID: 27742667
Progressive myoclonus epilepsy is a heterogeneous group of disorders characterized by myoclonic and tonic-clonic seizures, ataxia and cognitive decline. We here present two affected brothers. At 9 months of age...
7.
Bashiri F, Al-Rasheed A, Hassan S, Hamad M, El Khashab H, Kentab A, et al.
Paediatr Int Child Health
. 2016 Jun;
37(3):222-226.
PMID: 27329512
Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis is a recently identified auto-immune disorder characterised by severe memory deficit, a decreased level of consciousness, seizures, autonomic dysfunction and movement disorders. Three girls with the...
8.
Madeo M, Stewart M, Sun Y, Sahir N, Wiethoff S, Chandrasekar I, et al.
Am J Hum Genet
. 2016 May;
98(6):1249-1255.
PMID: 27236917
Glutamatergic neurotransmission governs excitatory signaling in the mammalian brain, and abnormalities of glutamate signaling have been shown to contribute to both epilepsy and hyperkinetic movement disorders. The etiology of many...
9.
Bosley T, Salih M, Alkhalidi H, Oystreck D, El Khashab H, Kondkar A, et al.
Ophthalmic Genet
. 2016 Feb;
37(3):276-80.
PMID: 26849454
Purpose: We describe the clinical features of a boy with bilateral Duane retraction syndrome (DRS), Duchenne muscular dystrophy (DMD), and other medical problems. Methods: The child was followed-up for five...
10.
Shamseldin H, Anazi S, Wakil S, Faqeih E, El Khashab H, Salih M, et al.
Am J Med Genet A
. 2016 Jan;
170A(5):1245-50.
PMID: 26749485
Limb reduction malformations are highly heterogeneous in their clinical presentation and so, predicting the underlying mutation on a clinical basis can be challenging. Molecular karyotyping is a powerful genomic tool...