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1 . Academic Journal
GIGYF1 loss of function is associated with clonal mosaicism and adverse metabolic health
저자
by
Yajie Zhao
;
Stasa Stankovic
;
Mine Koprulu
;
Eleanor Wheeler
;
Felix R. Day
, et al.
소스
Nature Communications, Vol 12, Iss 1, Pp 1-6 (2021)
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7 . Academic Journal
Differential IRF8 Transcription Factor Requirement Defines Two Pathways of Dendritic Cell Development in Humans
저자
by
Cytlak, Urszula
;
Resteu, Anastasia
;
Pagan, Sarah
;
Green, Kile
;
Milne, Paul
, et al.
소스
In
Immunity
18 August 2020 53(2):353-370
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7 . Dissertation/ Thesis
The role of common genetic variation in model polygenic and monogenic traits
저자
by
Lango Allen, Hana
;
Weedon, Michael
;
Frayling, Timothy
.
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5 .
Detection and characterization of male sex chromosome abnormalities in the UK Biobank study
저자
by
Yajie Zhao
;
Eugene J. Gardner
;
Marcus A. Tuke
;
Huairen Zhang
;
Maik Pietzner
, et al.
소스
Open Access (OpenAIRE)
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7 . Academic Journal
Copy number variation of LINGO1 in familial dystonic tremor
저자
by
Alakbarzade, Vafa
;
Iype, Thomas
;
Chioza, Barry A.
;
Singh, Royana
;
Harlalka, Gaurav V.
, et al.
소스
Neurology: Genetics
. Feb 04, 2019 5(1)
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7 . Academic Journal
Practical challenges for functional validation of STAT1 gain of function genetic variants.
저자
by
Albuquerque, Adriana S
;
Maimaris, Jesmeen
;
McKenna, Alexander J
;
Lambourne, Jonathan
;
Moreira, Fernando
, et al.
소스
Clinical & Experimental Immunology; May2023, Vol. 212 Issue 2, p166-169, 4p
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7 . Academic Journal
Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension
저자
by
Hadinnapola, Charaka
;
Bleda, Marta
;
Haimel, Matthias
;
Screaton, Nicholas
;
Swift, Andrew
, et al.
소스
Circulation
. Nov 21, 2017 136(21):2022-2033
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7 . Academic Journal
Megalobastic anemia, infantile leukemia, and immunodeficiency caused by a novel homozygous mutation in the DHFR gene
저자
by
Kuijpers, Taco W.
;
de Vries, Andrica C. H.
;
van Leeuwen, Ester M.
;
Ermens, A. (Ton) A. M.
;
de Pont, Saskia
, et al.
소스
In
Blood Advances
22 November 2022 6(22):5829-5834
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7 . Academic Journal
Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing
저자
by
Stals, Karen L.
;
Wakeling, Matthew
;
Baptista, Júlia
;
Caswell, Richard
;
Parrish, Andrew
, et al.
소스
Prenatal Diagnosis
. Jan 01, 2018 38(1):33-43
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7 . Academic Journal
Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2
저자
by
Cabezas, Oscar Rubio
;
Flanagan, Sarah E.
;
Stanescu, Horia
;
García-Martínez, Elena
;
Caswell, Richard
, et al.
소스
Journal of the American Society of Nephrology
. Aug 01, 2017 28(8):2529-2539
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