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1 . Academic Journal
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP
저자
by
Bakshi, Madhura
;
Wilson, Meredith
;
Berman, Yemina
;
Dickson, Rebecca
;
Fransen, Erik
, et al.
소스
In
Biological Psychiatry
15 February 2019 85(4):287-297
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7 . Academic Journal
Genome-wide sequencing expands the phenotypic spectrum of EP300 variants
저자
by
Costain, Gregory
;
Kannu, Peter
;
Bowdin, Sarah
.
소스
In
European Journal of Medical Genetics
March 2018 61(3):125-129
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5 . Periodical
Advancing diagnosis and research for rare genetic diseases in Indigenous peoples
저자
by
Baynam, Gareth
;
Julkowska, Daria
;
Bowdin, Sarah
;
Hermes, Azure
;
McMaster, Christopher R.
, et al.
소스
Nature Genetics; 20240101, Issue: Preprints p1-5, 5p
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7 . Periodical
Heterozygous rare variants in NR2F2cause a recognizable multiple congenital anomaly syndrome with developmental delays
저자
by
Ganapathi, Mythily
;
Matsuoka, Leticia S.
;
March, Michael
;
Li, Dong
;
Brokamp, Elly
, et al.
소스
European Journal of Human Genetics: EJHG; October 2023, Vol. 31 Issue: 10 p1117-1124, 8p
Scopus
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7 . Academic Journal
Severe aortic stenosis, bicuspid aortic valve and atrial septal defect in a child with Joubert Syndrome and Related Disorders (JSRD) – A case report and review of congenital heart defects reported in the human ciliopathies
저자
by
Karp, Natalya
;
Grosse-Wortmann, Lars
;
Bowdin, Sarah
.
소스
In
European Journal of Medical Genetics
November 2012 55(11):605-610
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5 . Academic Journal
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays
저자
by
Ganapathi, Mythily
;
Matsuoka, Leticia S.
;
March, Michael
;
Li, Dong
;
Brokamp, Elly
, et al.
소스
European Journal of Human Genetics
. 31(10):1117-1124
Scopus
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7 . Academic Journal
Fifteen-minute consultation: The efficient investigation of infantile and childhood epileptic encephalopathies in the era of modern genomics.
저자
by
Perry, Luke Daniel
;
Hogg, Sarah Louise
;
Bowdin, Sarah
;
Ambegaonkar, Gautam
;
Parker, Alasdair P. J.
, et al.
소스
Archives of Disease in Childhood -- Education & Practice Edition; Apr2022, Vol. 107 Issue 2, p80-87, 8p
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7 . Academic Journal
Reappraisal of Reported Genes for Sudden Arrhythmic Death: An Evidence-Based Evaluation of Gene Validity for Brugada Syndrome
저자
by
Hosseini, S. Mohsen
;
Kim, Raymond
;
Udupa, Sharmila
;
Costain, Gregory
;
Jobling, Rebekah
, et al.
소스
Circulation
. Jul 04, 2018
Full Text (LWW)
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7 . Academic Journal
Predictive Genomic Testing of Children for Adult Onset Disorders: A Canadian Perspective
저자
by
Szego, Michael J.
;
Meyn, M. Stephen
;
Anderson, James A.
;
Hayeems, Robin
;
Shuman, Cheryl
, et al.
소스
14 Am. J. Bioethics 19 (2014) / American Journal of Bioethics, Vol. 14, Issue 3 (March 2014), pp. 19-21
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7 . Periodical
A call for global action for rare diseases in Africa
저자
by
Baynam, Gareth S.
;
Groft, Stephen
;
van der Westhuizen, Francois H.
;
Gassman, Safiyya D.
;
du Plessis, Kelly
, et al.
소스
Nature Genetics; January 2020, Vol. 52 Issue: 1 p21-26, 6p
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