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1 . Academic Journal
P185: Genome and exome sequencing to define cardiac phenotypes in diagnostic odyssey cases
저자
by
Marta Figueiral
;
Alessia Paldino
;
Matheus Wilke
;
Brendan Lanpher
;
Ralitza Gavrilova
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101082- (2024)
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7 . Academic Journal
P314: A novel STAG1 variant causing developmental delay, failure to thrive, hypotonia, and recurrent infections
저자
by
Stephanie Safgren
;
Sarah Thurman
;
Joseph Farris
;
Michael Zimmermann
;
Raul Urrutia
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101209- (2024)
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7 . Academic Journal
P665: Genome sequencing defines the breakpoints of a TP53 promoter region deletion required for the purpose of preimplantation genetic testing
저자
by
Nisha Kanwar
;
Lidija Gorsic
;
Laura Rust
;
Nicole Hoppman
;
Wei Shen
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101570- (2024)
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7 . Academic Journal
P811: Prenatally diagnosed ring chromosome 18: A case report
저자
by
Corrine Nelson
;
Myra Wick
.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101719- (2024)
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4 . Academic Journal
Risk reduction for small cell cancer of the ovary, hypercalcemic type in prepubertal patient: A clinical and bioethical perspective
저자
by
John A. Vu
;
Whitney S. Thompson
;
Denise B. Klinkner
;
Asma Chattha
;
Myra Wick
, et al.
소스
Gynecologic Oncology Reports, Vol 49, Iss , Pp 101261- (2023)
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7 . Academic Journal
Nuclear Abnormalities in LMNA p.(Glu2Lys) Variant Segregating with LMNA-Associated Cardiocutaneous Progeria Syndrome
저자
by
Matheus V. M. B. Wilke
;
Myra Wick
;
Tanya L. Schwab
;
Rodrigo Tzovenos Starosta
;
Karl J. Clark
, et al.
소스
Genes, Vol 15, Iss 1, p 112 (2024)
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7 . Academic Journal
P086: Mosaic Li-Fraumeni syndrome identified in patient with a previously presumed germline variant following preimplantation genetic testing: A case report
저자
by
Rhianna Urban
;
Megan Holdren
;
Megan Hoenig
;
Laura Rust
;
Myra Wick
, et al.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100105- (2023)
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7 . Academic Journal
O50: A RENEW’d strategy to ending the diagnostic odyssey: Semi-automated REanalysis of NEgative Whole exome/genome cases
저자
by
Rory Olson
;
Alejandro Ferrer
;
Patrick Duffy
;
Filippo Pinto E Vairo
;
Laura Schultz-Rogers
, et al.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100703- (2023)
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7 .
Impact of asymptomatic and mild COVID-19 infection on fetal growth during pregnancy
저자
by
Kavita Narang
;
Megan Miller
;
Charisse Trinidad
;
Myra Wick
;
Regan Theiler
, et al.
소스
European journal of obstetrics, gynecology, and reproductive biology
. 281
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7 .
eP459: Rare clinical gene variant of SOX9: Acampomelic campomelic dysplasia
저자
by
Megan Miller
;
Myra Wick
;
Laura Rust
.
소스
Genetics in Medicine
. 24:S288-S289
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