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1 . Academic Journal
Variability of polygenic prediction for body mass index in Africa
저자
by
Tinashe Chikowore
;
Kristi Läll
;
Lisa K. Micklesfield
;
Zane Lombard
;
Julia H. Goedecke
, et al.
소스
Genome Medicine, Vol 16, Iss 1, Pp 1-13 (2024)
Open Access (BioMed Central)
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7 . Academic Journal
Retrospective file review shows limited genetic services fail most patients – an argument for the implementation of exome sequencing as a first-tier test in resource-constrained settings
저자
by
Emma K. Wiener
;
James Buchanan
;
Amanda Krause
;
Zané Lombard
;
for the DDD-Africa Study, as members of the H3Africa Consortium
.
소스
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)
Open Access (BioMed Central)
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7 . Academic Journal
Incorporating CNV analysis improves the yield of exome sequencing for rare monogenic disorders—an important consideration for resource-constrained settings
저자
by
Nadja Louw
;
Nadia Carstens
;
Zané Lombard
;
for DDD-Africa as members of the H3Africa Consortium
.
소스
Frontiers in Genetics, Vol 14 (2023)
Open Access (DOAJ)
Web of Science
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6 . Academic Journal
Identifying the genetic causes of developmental disorders and intellectual disability in Africa: a systematic literature review
저자
by
Fiona Baine-Savanhu
;
Shelley Macaulay
;
Nadja Louw
;
Alanna Bollweg
;
Kaitlyn Flynn
, et al.
소스
Frontiers in Genetics, Vol 14 (2023)
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7 . Academic Journal
Increasing African genomic data generation and sharing to resolve rare and undiagnosed diseases in Africa: a call-to-action by the H3Africa rare diseases working group
저자
by
Aimé Lumaka
;
Nadia Carstens
;
Koenraad Devriendt
;
Amanda Krause
;
Benard Kulohoma
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-6 (2022)
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7 . Academic Journal
Short- and long-read metagenomics of urban and rural South African gut microbiomes reveal a transitional composition and undescribed taxa
저자
by
Fiona B. Tamburini
;
Dylan Maghini
;
Ovokeraye H. Oduaran
;
Ryan Brewster
;
Michaella R. Hulley
, et al.
소스
Nature Communications, Vol 13, Iss 1, Pp 1-18 (2022)
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7 . Academic Journal
Glucocorticoids associate with cardiometabolic risk factors in black South Africans
저자
by
Siphiwe N Dlamini
;
Zané Lombard
;
Lisa K Micklesfield
;
Nigel Crowther
;
Shane A Norris
, et al.
소스
Endocrine Connections, Vol 10, Iss 8, Pp 873-884 (2021)
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7 . Academic Journal
Ending a diagnostic odyssey—The first case of Takenouchi–Kosaki syndrome in an African patient
저자
by
Kaitlyn Flynn
;
Candice Feben
;
Lindiwe Lamola
;
Nadia Carstens
;
Amanda Krause
, et al.
소스
Clinical Case Reports, Vol 9, Iss 4, Pp 2144-2148 (2021)
Open Access (Wiley)
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7 . Academic Journal
Associations Between CYP17A1 and SERPINA6/A1 Polymorphisms, and Cardiometabolic Risk Factors in Black South Africans
저자
by
Siphiwe N. Dlamini
;
Ananyo Choudhury
;
Michèle Ramsay
;
Lisa K. Micklesfield
;
Shane A. Norris
, et al.
소스
Frontiers in Genetics, Vol 12 (2021)
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7 . Academic Journal
Potential Impact of DPYD Variation on Fluoropyrimidine Drug Response in sub-Saharan African Populations
저자
by
Jorge E. B. da Rocha
;
Zané Lombard
;
Michèle Ramsay
.
소스
Frontiers in Genetics, Vol 12 (2021)
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