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1 . Academic Journal
Clinical and Molecular Characteristics of Neuronal Ceroid Lipofuscinosis in Saudi Arabia
저자
by
Kentab, Amal
;
Muddathir, H.H.
;
Salih, M.A.
;
Mushiba, Aziza M.
;
Zada, A.P.
, et al.
소스
In
Pediatric Neurology
June 2024 155:149-155
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7 . Academic Journal
Developmental and/or epileptic encephalopathy with spike-and-wave activation in sleep in Saudi Arabia: Electroclinical, etiologic, genetic, and outcome multicenter study
저자
by
Alsini, Hanin
;
Alghamdi, Abdulaziz
;
Alshafi, Shatha
;
Hundallah, Khalid
;
Almehmadi, Sameer
, et al.
소스
In
Seizure: European Journal of Epilepsy
April 2023 107:146-154
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7 . Academic Journal
Genotype–Phenotype Analysis of Children with Epilepsy Referred for Whole-Exome Sequencing at a Tertiary Care University Hospital.
저자
by
Bashiri, Fahad A.
;
AlSheikh, Rawan
;
Hamad, Muddathir H.
;
Alsheikh, Hamad
;
Alsheikh, Rana Abdullah
, et al.
소스
Children; Aug2023, Vol. 10 Issue 8, p1334, 13p
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7 . Academic Journal
Vici syndrome: Experience at a tertiary care center.
저자
by
Kentab, Amal
.
소스
Journal of the Neurological Sciences
. 2023 Supplement, Vol. 455, pN.PAG-N.PAG. 1p.
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3 . Academic Journal
Neurodevelopmental and epilepsy outcomes of patients with infantile spasms treated in a tertiary care center.
저자
by
Bashiri, Fahad A.
;
Al-Sehemi, Matar A.
;
Hamad, Muddathir H.
;
Alshammari, Nawaf R.
;
Aljumah, Mujtaba A.
, et al.
소스
Neurosciences; Jan2021, Vol. 26 Issue 1, p21-25, 5p
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7 . Academic Journal
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue.
저자
by
Alazami, Anas
;
Al-Qattan, Sarah
;
Faqeih, Eissa
;
Alhashem, Amal
;
Alshammari, Muneera
, et al.
소스
Human Genetics
. May2016, Vol. 135 Issue 5, p525-540. 16p.
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7 . Academic Journal
Genomic and phenotypic delineation of congenital microcephaly
저자
by
Shaheen, Ranad
;
Maddirevula, Sateesh
;
Ewida, Nour
;
Alsahli, Saud
;
Abdel-Salam, Ghada M. H.
, et al.
소스
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics
. 21(3):545-552
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7 . Academic Journal
Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans.
저자
by
Shamseldin, Hanan
;
Smith, Laura
;
Kentab, Amal
;
Alkhalidi, Hisham
;
Summers, Brady
, et al.
소스
Human Genetics
. Jan2016, Vol. 135 Issue 1, p21-30. 10p.
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7 . Academic Journal
Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus
저자
by
Alazami, Anas M
;
Hijazi, Hadia
;
Al-Dosari, Mohammed S
;
Shaheen, Ranad
;
Hashem, Amal
, et al.
소스
Journal of Medical Genetics
. Jul 01, 2013 50(7):425-430
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7 . Academic Journal
Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes
저자
by
Shamseldin, Hanan E
;
Alshammari, Muneera
;
Al-Sheddi, Tarfa
;
Salih, Mustafa A
;
Alkhalidi, Hisham
, et al.
소스
Journal of Medical Genetics
. Apr 01, 2012 49(4):234-241
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