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1 . Academic Journal
The phenotypic spectrum of dihydrolipoamide dehydrogenase deficiency in Saudi Arabia
저자
by
Anar Alfarsi
;
Majid Alfadhel
;
Seham Alameer
;
Amal Alhashem
;
Brahim Tabarki
, et al.
소스
Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100817- (2021)
Full Text (ScienceDirect)
Open Access (DOAJ)
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7 . Academic Journal
Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I
저자
by
Ahmad Alahmad
;
Alessia Nasca
;
Juliana Heidler
;
Kyle Thompson
;
Monika Oláhová
, et al.
소스
EMBO Molecular Medicine, Vol 12, Iss 11, Pp n/a-n/a (2020)
Open Access (DOAJ)
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7 .
Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort
저자
by
Mohammed Almannai
;
Fowzan S. Alkuraya
;
Ali Al-Otaibi
;
Naif A.M. Almontashiri
;
Lamya Jad
, et al.
소스
Genetics in Medicine
. 22:2071-2080
Full Text (ScienceDirect O/A)
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7 .
The phenotypic spectrum of dihydrolipoamide dehydrogenase deficiency in Saudi Arabia
저자
by
Majid Alfadhel
;
Anar Alfarsi
;
Ahmed Al Fares
;
Faroug Ababneh
;
Brahim Tabarki
, et al.
소스
Molecular Genetics and Metabolism Reports, Vol 29, Iss, Pp 100817-(2021)
Molecular Genetics and Metabolism Reports
Open Access (OpenAIRE)
Scopus
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7 .
Diagnostic comparison between cord blood and filter paper for the screening of congenital hypothyroidism
저자
by
Abeer Al-Sofyani
;
Saud F. Alshaikh
;
Meshari A. Turjoman
;
Eman Althobaiti
;
Anwar Borai
, et al.
소스
Journal of Clinical Laboratory Analysis
Open Access (Wiley)
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Scopus
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7 .
NBAS variants are associated with quantitative and qualitative NK and B cell deficiency
저자
by
Seham Alameer
;
Tobias Schwerd
;
Giuseppe Indolfi
;
Joseph A. Church
;
Adelheid Cerwenka
, et al.
소스
J. Clin. Immunol., DOI: 10.1007/s10875-021-01110-7 (2021)
Journal of Clinical Immunology
Open Access (OpenAIRE)
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7 .
Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I
저자
by
Eleonora Lamantea
;
Robert McFarland
;
Langping He
;
Alessia Nasca
;
Anna Ardissone
, et al.
소스
EMBO Molecular Medicine, Vol 12, Iss 11, Pp n/a-n/a (2020)
EMBO Molecular Medicine
Open Access (OpenAIRE)
Scopus
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7 .
Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients
저자
by
Seham Alameer
;
Carlo Dionisi-Vici
;
Fabian Hauck
;
Joseph A. Church
;
Martin W. Laass
, et al.
소스
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2019, ⟨10.1038/s41436-019-0698-4⟩
Genet. Med. 22, 610-621 (2020)
Open Access (OpenAIRE)
Scopus
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7 .
Expanding the clinical and genetic spectra of NKX6-2 -related disorder
저자
by
Hanadi A. Abdelrahman
;
Arndt Rolfs
;
Fahad Al-Hakami
;
L.I. Al-Gazali
;
Nouriya Al-Sannaa
, et al.
소스
Clinical Genetics
. 93:1087-1092
Web of Science
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7 .
Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability
저자
by
Oliver Brandau
;
Omid Paknia
;
Anett Marais
;
Lia Abbasi Moheb
;
Makia J. Marafi
, et al.
소스
European Journal of Human Genetics
. 26:592-598
Open Access (OpenAIRE)
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