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1 . Academic Journal
Pharmacological EZH2 inhibition combined with retinoic acid treatment promotes differentiation and apoptosis in rhabdomyosarcoma cells
저자
by
Eleanor O’Brien
;
Carmen Tse
;
Ian Tracy
;
Ian Reddin
;
Joanna Selfe
, et al.
소스
Clinical Epigenetics, Vol 15, Iss 1, Pp 1-16 (2023)
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7 . Academic Journal
The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum
저자
by
Nisreen Rumman
;
Mahmoud R. Fassad
;
Corine Driessens
;
Patricia Goggin
;
Nader Abdelrahman
, et al.
소스
ERJ Open Research, Vol 9, Iss 2 (2023)
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7 . Academic Journal
Comparison of Mendeliome exome capture kits for use in clinical diagnostics
저자
by
Reuben J. Pengelly
;
Daniel Ward
;
David Hunt
;
Christopher Mattocks
;
Sarah Ennis
.
소스
Scientific Reports, Vol 10, Iss 1, Pp 1-7 (2020)
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7 . Academic Journal
Cold-induced urticarial autoinflammatory syndrome related to factor XII activation
저자
by
Jörg Scheffel
;
Niklas A. Mahnke
;
Zonne L. M. Hofman
;
Steven de Maat
;
Jim Wu
, et al.
소스
Nature Communications, Vol 11, Iss 1, Pp 1-14 (2020)
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7 . Academic Journal
Long term follow-up of a family with GUCY2D dominant cone dystrophy
저자
by
Georgios Tsokolas
;
Hussein Almuhtaseb
;
Helen Griffiths
;
Fatima Shawkat
;
Reuben J. Pengelly
, et al.
소스
International Journal of Ophthalmology, Vol 11, Iss 12, Pp 1945-1950 (2018)
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7 . Academic Journal
Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease
저자
by
Christine Gast
;
Anthony Marinaki
;
Monica Arenas-Hernandez
;
Sara Campbell
;
Eleanor G. Seaby
, et al.
소스
BMC Nephrology, Vol 19, Iss 1, Pp 1-11 (2018)
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7 . Academic Journal
Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B)
저자
by
Chelsea S. Norman
;
Luke O’Gorman
;
Jane Gibson
;
Reuben J. Pengelly
;
Diana Baralle
, et al.
소스
Scientific Reports, Vol 7, Iss 1, Pp 1-9 (2017)
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7 . Academic Journal
Aarskog-Scott syndrome: phenotypic and genetic heterogeneity
저자
by
Ignacio Briceno
;
Julio Martinez
;
M. Reza Jabalameli
;
Reuben J. Pengelly
;
Sarah Ennis
, et al.
소스
AIMS Genetics, Vol 3, Iss 1, Pp 49-59 (2016)
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7 . Academic Journal
Unexpected Findings in a Child with Atypical Hemolytic Uremic Syndrome: An Example of How Genomics Is Changing the Clinical Diagnostic Paradigm
저자
by
Eleanor G. Seaby
;
Rodney D. Gilbert
;
Gaia Andreoletti
;
Reuben J. Pengelly
;
Catherine Mercer
, et al.
소스
Frontiers in Pediatrics, Vol 5 (2017)
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7 .
Comparison of Mendeliome exome capture kits for use in clinical diagnostics
저자
by
C. Mattocks
;
Reuben J. Pengelly
;
David Hunt
;
Daniel Ward
;
Sarah Ennis
.
소스
Scientific Reports, Vol 10, Iss 1, Pp 1-7 (2020)
Scientific Reports
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