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1 . Academic Journal
P146: BeginNGS, an artificial intelligence-enabled genome sequencing system for newborn screening of 409 childhood genetic disorders
저자
by
Jennifer Schleit
;
Meredith Wright
;
Lauren Olsen
;
Eric Blincow
;
Sara Caylor
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101043- (2024)
Full Text (ScienceDirect)
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7 . Academic Journal
Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients
저자
by
Julie Hathaway
;
Krista Heliö
;
Inka Saarinen
;
Jonna Tallila
;
Eija H. Seppälä
, et al.
소스
BMC Cardiovascular Disorders, Vol 21, Iss 1, Pp 1-11 (2021)
Open Access (BioMed Central)
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Web of Science
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7 . Academic Journal
Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy.
저자
by
Juha W Koskenvuo
;
Inka Saarinen
;
Saija Ahonen
;
Johanna Tommiska
;
Sini Weckström
, et al.
소스
PLoS ONE, Vol 16, Iss 2, p e0245681 (2021)
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7 . Academic Journal
Elevated proteasome capacity extends replicative lifespan in Saccharomyces cerevisiae.
저자
by
Undine Kruegel
;
Brett Robison
;
Thomas Dange
;
Günther Kahlert
;
Joe R Delaney
, et al.
소스
PLoS Genetics, Vol 7, Iss 9, p e1002253 (2011)
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7 . Academic Journal
The MDT-15 subunit of mediator interacts with dietary restriction to modulate longevity and fluoranthene toxicity in Caenorhabditis elegans.
저자
by
Jennifer Schleit
;
Valerie Z Wall
;
Marissa Simko
;
Matt Kaeberlein
.
소스
PLoS ONE, Vol 6, Iss 11, p e28036 (2011)
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6 .
Novel filamin C ( FLNC ) variant causes a severe form of familial mixed
hypertrophic‐restrictive
cardiomyopathy
저자
by
Nathalie Gaudreault
;
Louis‐Jacques Ruel
;
Cyndi Henry
;
Jennifer Schleit
;
Patrick Lagüe
, et al.
소스
American Journal of Medical Genetics Part A
. 191:1508-1517
Open Access (OpenAIRE)
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7 .
Diphthamide-deficiency syndrome: a novel human developmental disorder and ribosomopathy
저자
by
Raffael Schaffrath
;
Klaus Mayer
;
Harmen Hawer
;
Jennifer Schleit
;
Amit Malhotra
, et al.
소스
European Journal of Human Genetics
Open Access (OpenAIRE)
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7 .
eP359: Diagnostic yield of genetic testing in an unselected cohort of patients with congenital heart disease
저자
by
Julie Hathaway
;
Marcos Cicerchia
;
Johanna Tommiska
;
Saija Ahonen
;
Eija Seppala
, et al.
소스
Genetics in Medicine
. 24:S225-S226
Full Text (ScienceDirect O/A)
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7 .
eP358: Genetic findings in a cohort of patients with pulmonary arterial hypertension referred for NGS panel testing
저자
by
Julie Hathaway
;
Marcos Cicerchia
;
Johanna Tommiska
;
Saija Ahonen
;
Eija Seppälä
, et al.
소스
Genetics in Medicine
. 24:S224-S225
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7 .
eP399: Characterizing molecular diagnostic findings from next-generation sequencing panel testing for individuals with suspected congenital hypothyroidism or resistance to thyroid hormone
저자
by
Alicia Scocchia
;
Kimberly Gall
;
Julie Hathaway
;
Archie Taylor
;
Johanna Huusko
, et al.
소스
Genetics in Medicine
. 24:S251-S252
Full Text (ScienceDirect O/A)
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