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1 . Academic Journal
Kabuki syndrome stem cell models reveal locus specificity of histone methyltransferase 2D (KMT2D/MLL4).
저자
by
Jefri, Malvin
;
Zhang, Xin
;
Stumpf, Patrick S
;
Zhang, Li
;
Peng, Huashan
, et al.
소스
Human Molecular Genetics; Nov2022, Vol. 31 Issue 21, p3715-3728, 14p
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7 . Academic Journal
Clinical epigenetics: a primer for the practitioner.
저자
by
Aygun, Deniz
;
Bjornsson, Hans T
.
소스
Developmental Medicine & Child Neurology
. Feb2020, Vol. 62 Issue 2, p192-200. 9p.
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4 . Periodical
Kabuki syndrome: international consensus diagnostic criteria
저자
by
Adam, Margaret P
;
Banka, Siddharth
;
Bjornsson, Hans T
;
Bodamer, Olaf
;
Chudley, Albert E
, et al.
소스
Journal of Medical Genetics (JMG); 2019, Vol. 56 Issue: 2 p89-95, 7p
Full Text (BMJ Journals)
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7 . Periodical
Missense variants in the chromatin remodeler CHD1are associated with neurodevelopmental disability
저자
by
Pilarowski, Genay O
;
Vernon, Hilary J
;
Applegate, Carolyn D
;
Boukas, Leandros
;
Cho, Megan T
, et al.
소스
Journal of Medical Genetics (JMG); 2018, Vol. 55 Issue: 8 p561-566, 6p
Full Text (BMJ Journals)
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7 .
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome
저자
by
Sheppard, Sarah E
;
Campbell, Ian M
;
Harr, Margaret H
;
Gold, Nina
;
Li, Dong
, et al.
소스
American journal of medical genetics. Part A, vol 185, iss 6
Open Access (OpenAIRE)
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7 . Academic Journal
Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities
저자
by
Sobreira, Nara
;
Brucato, Martha
;
Zhang, Li
;
Ladd-Acosta, Christine
;
Ongaco, Chrissie
, et al.
소스
European Journal of Human Genetics
. 25(12):1335-1344
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7 . Academic Journal
Corrigendum to: Mendelian disorders of the epigenetic machinery: postnatal malleability and therapeutic prospects.
저자
by
Fahrner, Jill A
;
Bjornsson, Hans T
.
소스
Human Molecular Genetics; Mar2020, Vol. 29 Issue 5, p876-876, 1p
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4 . Academic Journal
Intra-individual change over time in DNA methylation with familial clustering.
저자
by
Bjornsson HT
;
Sigurdsson MI
;
Fallin MD
;
Irizarry RA
;
Aspelund T
, et al.
소스
JAMA: Journal of the American Medical Association
(JAMA), 6/25/2008; 299(24): 2877-2883. (7p)
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7 . Academic Journal
Epigenetic specificity of loss of imprinting of the IGF2 gene in Wilms tumors.
저자
by
Bjornsson HT
;
Brown LJ
;
Fallin MD
;
Rongione MA
;
Bibikova M
, et al.
소스
JNCI: Journal of the National Cancer Institute
(J NATL CANCER INST), 8/15/2007; 99(16): 1270-1273. (4p)
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