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1 . Academic Journal
Consensus-based expert recommendations on the management of MPS IVa and VI in Saudi Arabia
저자
by
Moeenaldeen AlSayed
;
Dia Arafa
;
Huda Al-Khawajha
;
Manal Afqi
;
Nouriya Al-Sanna’a
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-12 (2024)
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7 . Academic Journal
P339: Vosoritide therapy in patients with achondroplasia: Early experience and practical considerations for clinical practice
저자
by
Oliver Semler
;
Valérie Cormier-Daire
;
Ekkehart Lausch
;
Michael Bober
;
Ricki Carroll
, et al.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100367- (2023)
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7 . Academic Journal
KDM5A mutations identified in autism spectrum disorder using forward genetics
저자
by
Lauretta El Hayek
;
Islam Oguz Tuncay
;
Nadine Nijem
;
Jamie Russell
;
Sara Ludwig
, et al.
소스
eLife, Vol 9 (2020)
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7 .
KDM5A mutations identified in autism spectrum disorder using forward genetics
저자
by
R. Curtis Rogers
;
Henry Houlden
;
Miao Tang
;
Priscilla Anderton
;
Jamie Russell
, et al.
소스
eLife, Vol 9 (2020)
eLife
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7 .
Author response: KDM5A mutations identified in autism spectrum disorder using forward genetics
저자
by
Priscilla Anderton
;
Miao Tang
;
Aboulfazl Rad
;
Barbara R. DuPont
;
Xiaohong Li
, et al.
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7 .
Management of Mucopolysaccharidosis Type I in Saudi Arabia: Insights from Saudi Arabia
저자
by
Omar M. Hussein
;
Bassam Bin-Abbas
;
Maha Faden
;
Rawdah Al-Sunbul
;
Marwan ElBagoury
, et al.
소스
Open Access Macedonian Journal of Medical Sciences; Vol. 8 No. F (2020): F-Review Articles; 304-309
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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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7 .
Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations
저자
by
Taila Hartley
;
Fowzan S. Alkuraya
;
Richard L. Maas
;
Kym M. Boycott
;
Julian Raiman
, et al.
소스
The American Journal of Human Genetics
. 97:608-615
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7 .
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes
저자
by
Hesham Aldhalaan
;
Hana Akleh
;
Saeed Bohlega
;
Imaduddin Kanaan
;
Fathiya Al-Murshedi
, et al.
소스
Human Genetics
Open Access (OpenAIRE)
Scopus
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7 .
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population
저자
by
Malak Alghamdi
;
Susan Alhumaidi
;
Saeed Altala
;
Mirna Assoum
;
Aziza Chedrawi
, et al.
소스
The American Journal of Human Genetics
. 105:879
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