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1 . Academic Journal
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles
저자
by
Angius, Andrea
;
Baker, Janice A.
;
Bedoukian, Emma
;
Bhambhani, Vikas
;
Bodamer, Olaf
, et al.
소스
In
Human Genetics and Genomics Advances
18 July 2024 5(3)
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7 . Academic Journal
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals
저자
by
Bosch, Elisabeth
;
Popp, Bernt
;
Güse, Esther
;
Skinner, Cindy
;
van der Sluijs, Pleuntje J.
, et al.
소스
In
Genetics in Medicine
November 2023 25(11)
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7 . Academic Journal
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
저자
by
Rots, Dmitrijs
;
Jakub, Taryn E.
;
Keung, Crystal
;
Jackson, Adam
;
Banka, Siddharth
, et al.
소스
American Journal of Human Genetics
. Jun2023, Vol. 110 Issue 6, p963-978. 16p.
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7 . Academic Journal
Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency.
저자
by
Beck, David B.
;
Petracovici, Ana
;
He, Chongsheng
;
Moore, Hannah W.
;
Louie, Raymond J.
, et al.
소스
American Journal of Human Genetics
. Feb2020, Vol. 106 Issue 2, p234-245. 12p.
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7 . Academic Journal
The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8
저자
by
Dingemans, Alexander J. M.
;
Truijen, Kim M. G.
;
van de Ven, Sam
;
Bernier, Raphael
;
Bongers, Ernie M. H. F.
, et al.
소스
Translational Psychiatry
. 12(1)
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7 . Academic Journal
Filling in the gaps on FILS syndrome: A case report and literature review.
저자
by
Eason, Chelsea
;
Aleisa, Ahmad
;
Jones, Julie R.
;
Prijoles, Eloise J.
;
Wine Lee, Lara
.
소스
Pediatric Dermatology
. Sep2020, Vol. 37 Issue 5, p915-917. 3p.
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7 . Academic Journal
Williams–Beuren syndrome in diverse populations.
저자
by
Kruszka, Paul
;
Porras, Antonio R.
;
de Souza, Deise Helena
;
Moresco, Angélica
;
Huckstadt, Victoria
, et al.
소스
American Journal of Medical Genetics. Part A; May2018, Vol. 176 Issue 5, p1128-1136, 9p
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7 . Academic Journal
Noonan syndrome in diverse populations
저자
by
Kruszka, Paul
;
Porras, Antonio R.
;
Addissie, Yonit A.
;
Moresco, Angélica
;
Medrano, Sofia
, et al.
소스
American Journal of Medical Genetics Part A
. Sep 01, 2017 173(9):2323-2334
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7 . Academic Journal
Cover Image, Volume 173A, Number 9, September 2017
저자
by
Kruszka, Paul
;
Porras, Antonio R.
;
Addissie, Yonit A.
;
Moresco, Angélica
;
Medrano, Sofia
, et al.
소스
American Journal of Medical Genetics Part A
. Sep 01, 2017 173(9):i-i
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7 . Academic Journal
Rubinstein-Taybisyndrome in diverse populations
저자
by
Tekendo-Ngongang, Cedrik
;
Owosela, Babajide
;
Fleischer, Nicole
;
Addissie, Yonit A.
;
Malonga, Bryan
, et al.
소스
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
; SEP 27 2020, 12p.
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