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1 . Academic Journal
Growth in individuals with SATB2‐associated syndrome.
저자
by
Zarate, Yuri A.
;
Kannan, Amrit
;
Bosanko, Katherine A.
;
Caffrey, Aisling R.
.
소스
American Journal of Medical Genetics. Part A; Oct2022, Vol. 188 Issue 10, p2952-2957, 6p
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6 . Academic Journal
SATB2‐associated syndrome in adolescents and adults.
저자
by
Zarate, Yuri A.
;
Bosanko, Katherine A.
;
Caffrey, Aisling R.
.
소스
American Journal of Medical Genetics. Part A; Aug2021, Vol. 185 Issue 8, p2391-2398, 8p
Web of Science
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5 . Academic Journal
Case Report: SATB2 -Associated Syndrome Overlapping With Clinical Mitochondrial Disease Presentation: Report of Two Cases.
저자
by
Zarate, Yuri A.
;
Vernon, Hilary J.
;
Bosanko, Katherine A.
;
Ramani, Praveen K.
;
Gokden, Murat
, et al.
소스
Frontiers in Genetics; 6/21/2021, Vol. 11, p1-6, 6p
Web of Science
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7 . Academic Journal
Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2.
저자
by
Zarate, Yuri A.
;
Bosanko, Katherine A.
;
Thomas, Mary Ann
;
Miller, David T.
;
Cusmano‐Ozog, Kristina
, et al.
소스
Clinical Genetics
. Apr2021, Vol. 99 Issue 4, p547-557. 11p.
Web of Science
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7 . Academic Journal
A Newborn With Complex Skeletal Abnormalities, Joint Contractures, and Bilateral Corneal Clouding With Sclerocornea
저자
by
Sellars, Elizabeth A.
;
Bosanko, Katherine A.
;
Lepard, Tiffany
;
Garnica, Adolfo
;
Schaefer, Gerald Bradley
.
소스
In
Seminars in Pediatric Neurology
June 2014 21(2):84-87
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7 . Academic Journal
Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome.
저자
by
Lewis, Hannah
;
Samanta, Debopam
;
Örsell, Jenny-Li
;
Bosanko, Katherine A.
;
Rowell, Amy
, et al.
소스
Pediatric Neurology
. Nov2020, Vol. 112, p94-100. 7p.
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7 . Academic Journal
Mutation update for the SATB2 gene.
저자
by
Zarate, Yuri A.
;
Bosanko, Katherine A.
;
Caffrey, Aisling R.
;
Bernstein, Jonathan A.
;
Martin, Donna M.
, et al.
소스
Human Mutation; Aug2019, Vol. 40 Issue 8, p1013-1029, 17p
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7 . Academic Journal
JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome
저자
by
Verberne, Eline A.
;
Goh, Shuxiang
;
England, Jade
;
van Ginkel, Manon
;
Rafael-Croes, Louise
, et al.
소스
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics
. 23(2):374-383
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7 . Academic Journal
Less common underlying genetic diagnoses found in a cohort of 139 individuals surgically corrected for craniosynostosis.
저자
by
Ittleman, Benjamin R.
;
Mckissick, Jasmine
;
Bosanko, Katherine A.
;
Ocal, Eylem
;
Golinko, Michael
, et al.
소스
American Journal of Medical Genetics. Part A; Feb2018, Vol. 176 Issue 2, p487-491, 5p
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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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