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1 . Academic Journal
SARS-CoV-2–Related Acute Respiratory Distress Syndrome Uncovers a Patient with Severe Combined Immunodeficiency Disease
저자
by
Al-Saud, Bandar
;
Hazzazi, Khaled M.
;
Mohammed, Reem
;
Al Najjar, Alaa
;
Al Hazmi, Tariq
, et al.
소스
Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases
. 41(7):1507-1510
Web of Science
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7 . Academic Journal
Established and candidate transthyretin amyloidosis variants identified in the Saudi population by data mining
저자
by
Abouelhoda, Mohamed
;
Mohty, Dania
;
Alayary, Islam
;
Meyer, Brian F.
;
Arold, Stefan T.
, et al.
소스
Human Genomics
. 15(1)
Open Access (BioMed Central)
Web of Science
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7 . Academic Journal
Familial Clustering of Juvenile Psoriatic Arthritis Associated with a Hemizygous FOXP3 Mutation
저자
by
Alzyoud, Raed
;
Alansari, Shahad
;
Maaitah, Heba
;
AlDossari, Haya
;
Monies, Dorota
, et al.
소스
Current Rheumatology Reports
. 23(8)
Web of Science
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7 . Academic Journal
Autozygome and high throughput confirmation of disease genes candidacy
저자
by
Maddirevula, Sateesh
;
Alzahrani, Fatema
;
Al-Owain, Mohammed
;
Al Muhaizea, Mohammad A.
;
Kayyali, Husam R.
, et al.
소스
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics
. 21(3):736-742
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7 . Academic Journal
Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases
저자
by
Al-Mousa, Hamoud
;
Abouelhoda, Mohamed
;
Monies, Dorota M.
;
Al-Tassan, Nada
;
Al-Ghonaium, Abdulaziz
, et al.
소스
In
The Journal of Allergy and Clinical Immunology
June 2016 137(6):1780-1787
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7 . Academic Journal
Correction to: Expanding the genetic heterogeneity of intellectual disability
저자
by
Anazi, Shams
;
Maddirevula, Sateesh
;
Salpietro, Vincenzo
;
Asi, Yasmine T.
;
Alsahli, Saud
, et al.
소스
Human Genetics
. :1-5
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7 . Academic Journal
Expanding the genetic heterogeneity of intellectual disability
저자
by
Anazi, Shams
;
Maddirevula, Sateesh
;
Salpietro, Vincenzo
;
Asi, Yasmine T.
;
Alsahli, Saud
, et al.
소스
Human Genetics
. :1-11
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7 . Academic Journal
Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency
저자
by
Balasubramanian, Ravikumar
;
Choi, Jin-Ho
;
Francescatto, Ludmila
;
Willer, Jason
;
Horton, Edward R.
, et al.
소스
Proceedings of the National Academy of Sciences of the United States of America, 2014 Dec . 111(50), 17953-17958.
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7 . Academic Journal
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes
저자
by
Monies, Dorota
;
Abouelhoda, Mohamed
;
AlSayed, Moeenaldeen
;
Alhassnan, Zuhair
;
Alotaibi, Maha
, et al.
소스
Human Genetics
. August 2017 136(8):921-939
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7 . Academic Journal
Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome
저자
by
Monies, Dorota M.
;
Al-Hindi, Hindi N.
;
Al-Muhaizea, Mohamed A.
;
Jaroudi, Dyala J.
;
Al-Younes, Banan
, et al.
소스
In
Neuromuscular Disorders
April 2014 24(4):353-359
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