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1 . Academic Journal
A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study
저자
by
Adams, Lisa
;
Adlard, Julian
;
Alfonso, Rosa
;
Ali, Saira
;
Andrew, Angela
, et al.
소스
In
The Lancet Oncology
November 2021 22(11):1618-1631
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7 . Periodical
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
저자
by
Palmer, Elizabeth E.
;
Pusch, Michael
;
Picollo, Alessandra
;
Forwood, Caitlin
;
Nguyen, Matthew H.
, et al.
소스
Molecular Psychiatry; February 2023, Vol. 28 Issue: 2 p668-697, 30p
Web of Science
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7 . Academic Journal
Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility.
저자
by
Tudini, Emma
;
Davidson, Aimee L.
;
Dressel, Uwe
;
Andrews, Lesley
;
Antill, Yoland
, et al.
소스
Journal of Medical Genetics; Dec2021, Vol. 58 Issue 12, p853-858, 6p
Full Text (BMJ Journals)
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7 . Academic Journal
Further heterogeneity in Silver–Russell syndrome: PLAG1 deletion in association with a complex chromosomal rearrangement.
저자
by
Brereton, Rebecca E.
;
Nickerson, Sarah L.
;
Woodward, Karen J.
;
Edwards, Tracey
;
Sivamoorthy, Soruba
, et al.
소스
American Journal of Medical Genetics. Part A; Oct2021, Vol. 185 Issue 10, p3136-3145, 10p
Web of Science
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7 . Academic Journal
RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features.
저자
by
Palmer, Elizabeth E.
;
Carroll, Renee
;
Shaw, Marie
;
Kumar, Raman
;
Minoche, Andre E.
, et al.
소스
American Journal of Human Genetics
. Dec2020, Vol. 107 Issue 6, p1157-1169. 13p.
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7 . Academic Journal
The variability of SMARCA4‐related Coffin–Siris syndrome: Do nonsense candidate variants add to milder phenotypes?
저자
by
Li, Dong
;
Ahrens‐Nicklas, Rebecca C.
;
Baker, Janice
;
Bhambhani, Vikas
;
Calhoun, Amy
, et al.
소스
American Journal of Medical Genetics. Part A; Sep2020, Vol. 182 Issue 9, p2058-2067, 10p
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7 . Academic Journal
Initiating an undiagnosed diseases program in the Western Australian public health system.
저자
by
Baynam, Gareth
;
Broley, Stephanie
;
Bauskis, Alicia
;
Pachter, Nicholas
;
McKenzie, Fiona
, et al.
소스
Orphanet Journal of Rare Diseases
. 5/3/2017, Vol. 12, p1-8. 8p.
Open Access (BioMed Central)
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7 . Academic Journal
A flexible computational pipeline for research analyses of unsolved clinical exome cases
저자
by
Lassmann, Timo
;
Francis, Richard W.
;
Weeks, Alexia
;
Tang, Dave
;
Jamieson, Sarra E.
, et al.
소스
NPJ GENOMIC MEDICINE
; DEC 10 2020, 5 1, p54 11p.
Scopus
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7 . Academic Journal
Novel application of luciferase assay for the in vitro functional assessment of KAL1 variants in three females with septo-optic dysplasia (SOD).
저자
by
McCabe, Mark J.
;
Hu, Youli
;
Gregory, Louise C.
;
Gaston-Massuet, Carles
;
Alatzoglou, Kyriaki S.
, et al.
소스
Molecular & Cellular Endocrinology
. Dec2015, Vol. 417, p63-72. 10p.
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7 . Academic Journal
The variability ofSMARCA4-relatedCoffin-Sirissyndrome: Do nonsense candidate variants add to milder phenotypes?
저자
by
Li, Dong
;
Ahrens-Nicklas, Rebecca C.
;
Baker, Janice
;
Bhambhani, Vikas
;
Calhoun, Amy
, et al.
소스
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
; JUL 20 2020, 10p.
Scopus
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