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1 . Academic Journal
The impact of coding germline variants on contralateral breast cancer risk and survival
저자
by
Sahlberg, Kristine K.
;
Børresen-Dale, Anne-Lise
;
Gram, Inger Torhild
;
Olsen, Karina Standahl
;
Engebråten, Olav
, et al.
소스
In
The American Journal of Human Genetics
2 March 2023 110(3):475-486
Full Text (ScienceDirect)
Full Text (ScienceDirect O/A)
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7 . Periodical
Speech and language deficits are central to SETBP1haploinsufficiency disorder
저자
by
Morgan, Angela
;
Braden, Ruth
;
Wong, Maggie M. K.
;
Colin, Estelle
;
Amor, David
, et al.
소스
European Journal of Human Genetics: EJHG; August 2021, Vol. 29 Issue: 8 p1216-1225, 10p
Web of Science
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7 . Academic Journal
Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium
저자
by
Møller, Pål
;
Seppälä, Toni
;
Dowty, James G.
;
Haupt, Saskia
;
Dominguez-Valentin, Mev
, et al.
소스
Hereditary Cancer in Clinical Practice
. 20(1)
Open Access (BioMed Central)
Web of Science
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7 . Academic Journal
The incidence, prevalence and clinical features of MECP2 duplication syndrome in Australian children.
저자
by
Giudice‐Nairn, Peter
;
Downs, Jenny
;
Wong, Kingsley
;
Wilson, Dylan
;
Ta, Daniel
, et al.
소스
Journal of Paediatrics & Child Health
. Nov2019, Vol. 55 Issue 11, p1315-1322. 8p. 1 Color Photograph, 1 Diagram, 3 Charts, 2 Graphs.
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7 . Academic Journal
Speech and language deficits are central to SETBP1 haploinsufficiency disorder
저자
by
Morgan, Angela
;
Braden, Ruth
;
Wong, Maggie M. K.
;
Colin, Estelle
;
Amor, David
, et al.
소스
European Journal of Human Genetics
. 29(8):1216-1225
Web of Science
Scopus
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7 .
A qualitative exploration of parent decision making about new genetic tests for children with diagnosed neurodevelopmental disorders
저자
by
Turbitt, Erin
;
McEwen, Alison
;
Amor, David
.
소스
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5 . Academic Journal
A novel approach to offering additional genomic findings—A protocol to test a two‐step approach in the healthcare system.
저자
by
Wale, Janney
;
Martyn, Melissa
;
Kanga‐Parabia, Anaita
;
Gaff, Clara L.
;
Lynch, Elly
, et al.
소스
Journal of Genetic Counseling; Apr2019, Vol. 28 Issue 2, p388-397, 10p
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7 . Academic Journal
PW283 Identification and characterisation of a novel hypertrophic cardiomyopathy gene
저자
by
Phelan, Dean
;
Wilson, Gabrielle
;
Sim, Joe
;
Bahlo, Melanie
;
Hickey, Peter
, et al.
소스
In
Global Heart
March 2014 9(1) Supplement:e316-e316
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7 . Academic Journal
Neuropathology of childhood-onset basal ganglia degeneration caused by mutation of VAC14.
저자
by
Stutterd, Chloe
;
Diakumis, Peter
;
Bahlo, Melanie
;
Fanjul Fernandez, Miriam
;
Leventer, Richard J.
, et al.
소스
Annals of Clinical & Translational Neurology
. Dec2017, Vol. 4 Issue 12, p859-864. 6p.
Open Access (Wiley)
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7 .
Additional file 1 of Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium
저자
by
Møller, Pål
;
Seppälä, Toni
;
Dowty, James G.
;
Haupt, Saskia
;
Dominguez-Valentin, Mev
, et al.
소스
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