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1 . Academic Journal
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study
저자
by
Boycott, Kym
;
Brudno, Michael
;
Bernier, Francois
;
van Karnebeek, Clara
;
Dyment, David
, et al.
소스
In
Genetics in Medicine
February 2024 26(2)
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7 . Academic Journal
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome
저자
by
Choufani, Sanaa
;
McNiven, Vanda
;
Cytrynbaum, Cheryl
;
Jangjoo, Maryam
;
Adam, Margaret P.
, et al.
소스
In
The American Journal of Human Genetics
6 October 2022 109(10):1867-1884
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7 . Periodical
Expanding the phenotypic spectrum of NOTCH1variants: clinical manifestations in families with congenital heart disease
저자
by
Stanley, Kaitlin J.
;
Kalbfleisch, Kelsey J.
;
Moran, Olivia M.
;
Chaturvedi, Rajiv R.
;
Roifman, Maian
, et al.
소스
European Journal of Human Genetics: EJHG; July 2024, Vol. 32 Issue: 7 p795-803, 9p
Web of Science
Scopus
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7 . Academic Journal
P740: DMD or not DMD? Clinical genome sequencing in the interpretation of complex copy number gains
저자
by
Higginbotham, Edward
;
Lau, Lynette
;
Thiruvahindrapuram, Bhooma
;
MacDonald, Jeffrey
;
Sung, Wilson
, et al.
소스
In
Genetics in Medicine Open
2024 2 Supplement 1
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7 . Academic Journal
P388: Noonan syndrome associated with a homozygous deep intronic variant in LZTR1 gene confirmed by RNA sequencing
저자
by
Dupuis, Lucie
;
Szuto, Anna
;
Marshall, Christian
;
Kyriakopoulou, Lianna
;
Mendoza-Londono, Roberto
, et al.
소스
In
Genetics in Medicine Open
2024 2 Supplement 1
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7 . Academic Journal
P290: Neonatal encephalopathy: Identification of underlying genetic causes
저자
by
Ambrose, Anastasia
;
McNiven, Vanda
;
Wilson, Diane
;
Schulze, Andreas
;
Chau, Vann
, et al.
소스
In
Genetics in Medicine Open
2024 2 Supplement 1
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7 . Academic Journal
Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease
저자
by
Stanley, Kaitlin J.
;
Kalbfleisch, Kelsey J.
;
Moran, Olivia M.
;
Chaturvedi, Rajiv R.
;
Roifman, Maian
, et al.
소스
European Journal of Human Genetics
. 32(7):795-803
Web of Science
Scopus
JCR 저널정보
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7 . Academic Journal
Dystonia with myoclonus and vertical supranuclear gaze palsy associated with a rare GNB1 variant
저자
by
Reyes, Nikolai Gil D.
;
Di Luca, Daniel G.
;
McNiven, Vanda
;
Lang, Anthony E.
.
소스
In
Parkinsonism and Related Disorders
January 2023 106
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6 . Periodical
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148mutations
저자
by
Szakszon, Katalin
;
Lourenco, Charles Marques
;
Callewaert, Bert Louis
;
Geneviève, David
;
Rouxel, Flavien
, et al.
소스
Journal of Medical Genetics (JMG); 2024, Vol. 61 Issue: 2 p132-141, 10p
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7 . Academic Journal
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.
저자
by
Hartley, Taila
;
Soubry, Élisabeth
;
Acker, Meryl
;
Osmond, Matthew
;
Couse, Madeline
, et al.
소스
Clinical Genetics
. Mar2023, Vol. 103 Issue 3, p288-300. 13p.
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