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1 . Academic Journal
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases
저자
by
Lama AlAbdi
;
Hanan E. Shamseldin
;
Ebtissal Khouj
;
Rana Helaby
;
Bayan Aljamal
, et al.
소스
Genome Medicine, Vol 15, Iss 1, Pp 1-16 (2023)
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7 . Academic Journal
Further Delineation of the Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4
저자
by
Saud Alsahli
;
Muhammad Talal Alrifai
;
Saeed Al Tala
;
Fuad Al Mutairi
;
Majid Alfadhel
.
소스
Journal of Central Nervous System Disease, Vol 10 (2018)
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7 . Academic Journal
Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families
저자
by
Anas M. Alazami
;
Nisha Patel
;
Hanan E. Shamseldin
;
Shamsa Anazi
;
Mohammed S. Al-Dosari
, et al.
소스
Cell Reports, Vol 10, Iss 2, Pp 148-161 (2015)
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7 .
Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
저자
by
Jenny Carmichael
;
Federico Zara
;
Konstantinos Ampatzis
;
Somayeh Bakhtiari
;
Sherifa A. Hamed
, et al.
소스
Brain
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7 .
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
저자
by
Juliane S Müller
;
Adriana P. Rebelo
;
Fatima Rahman
;
Isabella Ceccherini
;
Shoji Tsuji
, et al.
소스
Brain
Brain 144(5), 1422-1434 (2021). doi:10.1093/brain/awab041
Brain, 144, 5, pp. 1422-1434
Brain, 144, 1422-1434
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7 .
Mutations of the Histone Linker H1-4: An Expanded Cohort and Functional Characterization of Frameshift Mutant H1.4 in Neurons
저자
by
Martine W Tremblay
;
Matthew V Green
;
Jill A Rosenfeld
;
Haley Streff
;
William Craigen
, et al.
소스
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7 .
Molecular autopsy in maternal–fetal medicine
저자
by
Alya Alkaff
;
Wafaa Eyaid
;
Nada Alsahan
;
Rubina Khan
;
Niema Meriki
, et al.
소스
Genetics in Medicine
. 20:420-427
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7 .
The landscape of early infantile epileptic encephalopathy in a consanguineous population
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by
Waleed Al-Twaijri
;
Amal Al Hashem
;
Brahim Tabarki
;
Sateesh Maddirevula
;
Xena S. Al Qahtani
, et al.
소스
Seizure
. 69
Open Access (OpenAIRE)
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7 .
The many faces of peroxisomal disorders: Lessons from a large Arab cohort
저자
by
Nawal Makhseed
;
Majid Alfadhel
;
Hanan E. Shamseldin
;
Nisha Patel
;
Eissa Faqeih
, et al.
소스
Clinical genetics
. 95(2)
Scopus
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7 .
Autozygome and high throughput confirmation of disease genes candidacy
저자
by
Seham Alameer
;
Mariam Almureikhi
;
Zuhair Rahbeeni
;
Mohamed Abouelhoda
;
Ameera Balobaid
, et al.
소스
Genetics in Medicine
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