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1 . Academic Journal
P319: Expanding the phenotype of EIF3F-related neurodevelopmental disorder
저자
by
Zohra Shad
;
Prisca Mbonu
;
Isabella Aguiar
;
Laiba Hassan
;
Elena Repnikova
.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101213- (2024)
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7 . Academic Journal
P398: A rare report of a child with mosaic trisomy 4
저자
by
Lauren Bartik
;
Elena Repnikova
;
Eric Rush
;
Jennifer Roberts
;
Erin Baldwin
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101292- (2024)
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7 . Academic Journal
P629: A novel 198 kb partial duplication in KMT2C: Report of a patient with features of Kleefstra syndrome-2 and adrenal ganglioneuroblastoma
저자
by
Rishabh Gaur
;
John Herriges
;
Isabelle Thiffault
;
Julie Joyce
;
Eric Rush
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101535- (2024)
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7 . Academic Journal
P077: Diagnostic dilemma in a pediatric high grade brain tumor with the ETV6-NTRK3 gene fusion
저자
by
Elena Repnikova
;
Kenneth Aldape
;
Midhat Farooqi
;
Melissa Gener
;
Kevin Ginn
, et al.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100096- (2023)
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7 . Academic Journal
P457: A case of hexasomy 15q due to a tricentric supernumerary chromosome 15
저자
by
Emily Farrow
;
Laura Cross
;
Bonnie Sullivan
;
Keely Fitzgerald
;
Ahmed Abdelmoity
, et al.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100504- (2023)
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7 . Academic Journal
P484: The recurrent 15q11.2 deletion: A single laboratory experience
저자
by
John Herriges
;
Jennifer Roberts
;
Elena Repnikova
;
Lei Zhang
.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100531- (2023)
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6 . Academic Journal
P594: A 3.9 Mb triplication within 11p14.1p13 containing ELP4 and PAX6 in a patient with congenital nystagmus and mild speech delay
저자
by
Lei Zhang
;
Janda Jenkins
;
Jennifer Roberts
;
Elena Repnikova
;
Shivarajan Amudhavalli
, et al.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100641- (2023)
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7 . Academic Journal
Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report
저자
by
Maxime Cadieux-Dion
;
Nicole P. Safina
;
Kendra Engleman
;
Carol Saunders
;
Elena Repnikova
, et al.
소스
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-6 (2018)
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7 .
Phenotypic expansion and variable expressivity in individuals with JARID2 ‐related intellectual disability: A case series
저자
by
Maxime Cadieux‐Dion
;
Emily Farrow
;
Isabelle Thiffault
;
Ana S. A. Cohen
;
Holly Welsh
, et al.
소스
Clinical Genetics
. 102:136-141
Web of Science
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JCR 저널정보
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7 .
Laboratory Testing for Prader-Willi Syndrome
저자
by
Nicole L. Hoppman
;
Elena Repnikova
;
Ross A. Rowsey
.
소스
Management of Prader-Willi Syndrome ISBN: 9783030981709
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