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1 . Academic Journal
Evinacumab in severe hypertriglyceridemia with or without lipoprotein lipase pathway mutations: a phase 2 randomized trial
저자
by
Rosenson, Robert S.
;
Gaudet, Daniel
;
Ballantyne, Christie M.
;
Baum, Seth J.
;
Bergeron, Jean
, et al.
소스
Nature Medicine
. 29(3):729-737
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7 . Academic Journal
A de novo paradigm for male infertility
저자
by
Oud, M. S.
;
Smits, R. M.
;
Smith, H. E.
;
Mastrorosa, F. K.
;
Holt, G. S.
, et al.
소스
Nature Communications
. 13(1)
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7 . Academic Journal
Homozygous IL37 mutation associated with infantile inflammatory bowel disease
저자
by
Zhang, Zinan Z.
;
Zhang, Yu
;
He, Tingyan
;
Sweeney, Colin L.
;
Barisc, Safa
, et al.
소스
Proceedings of the National Academy of Sciences of the United States of America, 2021 Mar 01. 118(10), 1-3.
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7 . Academic Journal
Correction to: Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension
저자
by
Zhu, Na
;
Pauciulo, Michael W.
;
Welch, Carrie L.
;
Lutz, Katie A.
;
Coleman, Anna W.
, et al.
소스
Genome Medicine
. 14(1)
Open Access (BioMed Central)
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7 . Academic Journal
A de novo paradigm for male infertility
저자
by
M. S. Oud
;
R. M. Smits
;
H. E. Smith
;
F. K. Mastrorosa
;
G. S. Holt
, et al.
소스
Nature Communications, Vol 13, Iss 1, Pp 1-10 (2022)
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7 . Academic Journal
A Machine Learning Approach to Identifying Causal Monogenic Variants in Inflammatory Bowel Disease
저자
by
Mulder, Daniel J.
;
Khalouei, Sam
;
Li, Michael
;
Warner, Neil
;
Gonzaga-Jauregui, Claudia
, et al.
소스
In
Gastro Hep Advances
2022 1(2):171-179
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7 . Academic Journal
Exome-based investigation of the genetic basis of human pigmentary glaucoma
저자
by
Carly van der Heide
;
Wes Goar
;
Kacie J. Meyer
;
Wallace L. M. Alward
;
Erin A. Boese
, et al.
소스
BMC Genomics, Vol 22, Iss 1, Pp 1-12 (2021)
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7 . Academic Journal
Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency
저자
by
Ghosh, Sujal
;
Köstel Bal, Sevgi
;
Edwards, Emily S.J.
;
Pillay, Bethany
;
Jiménez Heredia, Raúl
, et al.
소스
In
Blood
3 December 2020 136(23):2638-2655
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7 . Academic Journal
Exome-based investigation of the genetic basis of human pigmentary glaucoma
저자
by
van der Heide, Carly
;
Goar, Wes
;
Meyer, Kacie J.
;
Alward, Wallace L. M.
;
Boese, Erin A.
, et al.
소스
BMC Genomics
. 22(1)
Open Access (BioMed Central)
Web of Science
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7 . Academic Journal
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants
저자
by
Zhang, Li Xin
;
Lemire, Gabrielle
;
Gonzaga-Jauregui, Claudia
;
Molidperee, Sirinart
;
Galaz-Montoya, Carolina
, et al.
소스
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics
. 22(8):1338-1347
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