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1 . Academic Journal
The Medical Action Ontology: A tool for annotating and analyzing treatments and clinical management of human disease
저자
by
Carmody, Leigh C.
;
Gargano, Michael A.
;
Toro, Sabrina
;
Vasilevsky, Nicole A.
;
Adam, Margaret P.
, et al.
소스
In
Med
8 December 2023 4(12):913-927
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7 . Academic Journal
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies
저자
by
Smallwood, Kelly
;
Watt, Kristin E.N.
;
Ide, Satoru
;
Baltrunaite, Kristina
;
Brunswick, Chad
, et al.
소스
In
The American Journal of Human Genetics
4 May 2023 110(5):809-825
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7 . Academic Journal
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome
저자
by
Choufani, Sanaa
;
McNiven, Vanda
;
Cytrynbaum, Cheryl
;
Jangjoo, Maryam
;
Adam, Margaret P.
, et al.
소스
In
The American Journal of Human Genetics
6 October 2022 109(10):1867-1884
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7 . Academic Journal
Estimating the community prevalence, child traits, and maternal risk factors of fetal alcohol spectrum disorders (FASD) from a random sample of school children
저자
by
May, Philip A.
;
Hasken, Julie M.
;
Hooper, Stephen R.
;
Hedrick, Dixie M.
;
Jackson-Newsom, Julia
, et al.
소스
In
Drug and Alcohol Dependence
1 October 2021 227
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7 . Academic Journal
The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children
저자
by
Freed, Amanda S.
;
Clowes Candadai, Sarah V.
;
Sikes, Megan C.
;
Thies, Jenny
;
Byers, Heather M.
, et al.
소스
In
The Journal of Pediatrics
November 2020 226:202-212
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7 . Academic Journal
Clinical RNA sequencing clarifies variants of uncertain significance identified by prior testing
저자
by
Marquez, Jonathan
;
Cech, Jennifer N.
;
Paschal, Cate R.
;
Dingmann, Bri
;
Scott, Anna I.
, et al.
소스
In
Genetics in Medicine Open
August 2024
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7 . Academic Journal
Maternal risk factors for fetal alcohol spectrum disorders: Distal variables.
저자
by
May, Philip A.
;
Hasken, Julie M.
;
de Vries, Marlene M.
;
Marais, Anna‐Susan
;
Abdul‐Rahman, Omar
, et al.
소스
Alcohol: Clinical & Experimental Research
. Feb2024, Vol. 48 Issue 2, p319-344. 26p.
Scopus
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7 . Academic Journal
Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions.
저자
by
Verscaj, Courtney P.
;
Velez‐Bartolomei, Frances
;
Bodle, Ethan
;
Chan, Katie
;
Lyons, Michael J.
, et al.
소스
Prenatal Diagnosis; Feb2024, Vol. 44 Issue 2, p237-246, 10p
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7 . Academic Journal
Maternal and paternal risk factors for fetal alcohol spectrum disorders: Alcohol and other drug use as proximal influences.
저자
by
May, Philip A.
;
Hasken, Julie M.
;
de Vries, Marlene M.
;
Marais, Anna‐Susan
;
Abdul‐Rahman, Omar
, et al.
소스
Alcohol: Clinical & Experimental Research
. Nov2023, Vol. 47 Issue 11, p2090-2109. 20p.
Scopus
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7 . Academic Journal
Congenital virilization of female infants recognized after pregnancies with retained levonorgestrel intrauterine devices
저자
by
Hougen, Helen Y.
;
Seideman, Casey A.
;
Adam, Margaret P.
;
Amies Oelschlager, Anne-Marie
;
Fechner, Patricia Y.
, et al.
소스
In
Journal of Pediatric Urology
April 2020 16(2):241-243
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