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1 . Academic Journal
Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study
저자
by
Li, Jianqiao
;
Hojlo, Margaret A
;
Chennuri, Sampath
;
Gujral, Nitin
;
Paterson, Heather L
, et al.
소스
Journal of Medical Internet Research, Vol 23, Iss 3, p e21023 (2021)
Open Access (DOAJ)
Scopus
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7 . Academic Journal
Participant-guided development of bilingual genomic educational infographics for Electronic Medical Records and Genomics Phase IV study.
저자
by
Casillan, Aimiel
;
Florido, Michelle E
;
Galarza-Cornejo, Jamie
;
Bakken, Suzanne
;
Lynch, John A
, et al.
소스
Journal of the American Medical Informatics Association; Feb2024, Vol. 31 Issue 2, p306-316, 11p
Full Text (OUP)
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7 . Academic Journal
Genetic Factors Underlying Sudden Infant Death Syndrome.
저자
by
Keywan, Christine
;
Poduri, Annapurna H
;
Goldstein, Richard D
;
Holm, Ingrid A
.
소스
Application of Clinical Genetics; Feb2021, Vol. 14, p61-76, 16p
Open Access (T&F)
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6 .
TUBB4Bvariants specifically impact ciliary function, causing a ciliopathic spectrum
저자
by
Mechaussier, Sabrina
;
Dodd, Daniel O
;
Yeyati, Patricia L
;
McPhie, Fraser
;
Attard, Thomas
, et al.
소스
medRxiv
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7 . Academic Journal
Enrichment sampling for a multi-site patient survey using electronic health records and census data.
저자
by
Mercaldo, Nathaniel D
;
Brothers, Kyle B
;
Carrell, David S
;
Clayton, Ellen W
;
Connolly, John J
, et al.
소스
Journal of the American Medical Informatics Association; Mar2019, Vol. 26 Issue 3, p219-227, 9p, 6 Charts, 1 Graph
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7 . Academic Journal
Prior opioid exposure influences parents' sharing of their children's CYP2D6 research results.
저자
by
Myers, Melanie F
;
Zhang, Xue
;
McLaughlin, Brooke
;
Kissell, Diane
;
Perry, Cassandra L
, et al.
소스
Pharmacogenomics; Aug2017, Vol. 18 Issue 13, p1199-1213, 15p
Scopus
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7 . Academic Journal
High-throughput characterization of the functional impact of IgG Fc glycan aberrancy in juvenile idiopathic arthritis
저자
by
Cheng, Hao D
;
Stöckmann, Henning
;
Adamczyk, Barbara
;
McManus, Ciara A
;
Ercan, Altan
, et al.
소스
Glycobiology
. Dec 01, 2017 27(12):1099-1108
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7 . Academic Journal
An assessment of clinician and researcher needs for support in the era of genomic medicine
저자
by
Savage, Sarah K
;
Ziniel, Sonja I
;
Stoler, Joan
;
Margulies, David M
;
Holm, Ingrid A
, et al.
소스
Personalized Medicine
. Aug 01, 2014 11(6):569-579
Scopus
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7 . Academic Journal
Pediatric clinical exome/genome sequencing and the engagement process: encouraging active conversation with the older child and adolescent: points to consider—a statement of the American College of Medical Genetics and Genomics (ACMG)
저자
by
Bush, Lynn W
;
Bartoshesky, Louis E
;
David, Karen L
;
Wilfond, Benjamin
;
Williams, Janet L
, et al.
소스
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics
. 20(7):692-694
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7 . Periodical
Professional responsibilities regarding the provision, publication, and dissemination of patient phenotypes in the context of clinical genetic and genomic testing: points to consider—a statement of the American College of Medical Genetics and Genomics (ACMG)
저자
by
Bush, Lynn W
;
Beck, Anita E
;
Biesecker, Leslie G
;
Evans, James P
;
Hamosh, Ada
, et al.
소스
Genetics in Medicine; February 2018, Vol. 20 Issue: 2 p169-171, 3p
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