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1 . Academic Journal
A homozygous stop codon in HORMAD2 in a patient with recurrent digynic triploid miscarriage
저자
by
Manqi Liang
;
Beena Suresh
;
Eric Bareke
;
Sanaa Choufani
;
Sujatha Jagadeesh
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 12, Iss 2, Pp n/a-n/a (2024)
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7 . Academic Journal
P369: Acute lymphocytic leukemia in a child with Beckwith Wiedemann syndrome: Coincidence or related to loss of CDKN1C function?
저자
by
Nicole Martin
;
Sanaa Choufani
;
Rosanna Weksberg
.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101263- (2024)
Full Text (ScienceDirect)
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5 . Academic Journal
P637: A newly derived DNA methylation signature for Koolen de Vries syndrome addresses the diagnostic challenges of the 17q21.31 locus
저자
by
Zain Awamleh
;
Sanaa Choufani
;
Dmitrijs Rots
;
Alexander Dingemans
;
Juan Dario Ortigoza Escobar
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101543- (2024)
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7 . Academic Journal
P837: DNA methylation profiling in Kabuki syndrome: Steps towards improved classification of variants of uncertain significance
저자
by
Sanaa Choufani
;
Rosanna Weksberg
.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101748- (2024)
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4 . Academic Journal
Inhibition of DNA methylation during chronic obstructive bladder disease (COBD) improves function, pathology and expression
저자
by
Martin Sidler
;
K. J. Aitken
;
Jia-Xin Jiang
;
Priyank Yadav
;
Erin Lloyd
, et al.
소스
Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)
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7 . Academic Journal
Genomic imbalances in the placenta are associated with poor fetal growth
저자
by
Giulia F. Del Gobbo
;
Yue Yin
;
Sanaa Choufani
;
Emma A. Butcher
;
John Wei
, et al.
소스
Molecular Medicine, Vol 27, Iss 1, Pp 1-12 (2021)
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7 . Academic Journal
An Epigenetically Distinct Subset of Children With Autism Spectrum Disorder Resulting From Differences in Blood Cell Composition
저자
by
Maryam Jangjoo
;
Sarah J. Goodman
;
Sanaa Choufani
;
Brett Trost
;
Stephen W. Scherer
, et al.
소스
Frontiers in Neurology, Vol 12 (2021)
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7 . Academic Journal
Screening for genes that accelerate the epigenetic aging clock in humans reveals a role for the H3K36 methyltransferase NSD1
저자
by
Daniel E. Martin-Herranz
;
Erfan Aref-Eshghi
;
Marc Jan Bonder
;
Thomas M. Stubbs
;
Sanaa Choufani
, et al.
소스
Genome Biology, Vol 20, Iss 1, Pp 1-19 (2019)
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7 . Academic Journal
New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome
저자
by
Eric Chater-Diehl
;
Resham Ejaz
;
Cheryl Cytrynbaum
;
Michelle T. Siu
;
Andrei Turinsky
, et al.
소스
BMC Medical Genomics, Vol 12, Iss 1, Pp 1-14 (2019)
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7 . Academic Journal
Cell lineage-specific genome-wide DNA methylation analysis of patients with paediatric-onset systemic lupus erythematosus
저자
by
Kit San Yeung
;
Tsz Leung Lee
;
Mo Yin Mok
;
Christopher Chun Yu Mak
;
Wanling Yang
, et al.
소스
Epigenetics, Vol 14, Iss 4, Pp 341-351 (2019)
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