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1 . Academic Journal
Absence of Collagen Flowers on Electron Microscopy and Identification of (Likely) Pathogenic COL5A1 Variants in Two Patients
저자
by
Chloe Angwin
;
Angela F. Brady
;
Marina Colombi
;
David J. P. Ferguson
;
Rebecca Pollitt
, et al.
소스
Genes, Vol 10, Iss 10, p 762 (2019)
Open Access (DOAJ)
Web of Science
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7 .
A Palindrome-Like Structure on 16p13.3 Is Associated with the Formation of Complex Structural Variations and SRRM2 Haploinsufficiency
저자
by
Alistair T. Pagnamenta
;
Jing Yu
;
Tracey A. Willis
;
Mona Hashim
;
Eleanor G. Seaby
, et al.
소스
Human Mutation
.
Open Access (OpenAIRE)
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7 .
PIGG variant pathogenicity assessment reveals characteristic features within 19 families
저자
by
Anna Lehman
;
Christina T. Rüsch
;
Angela F. Brady
;
Julie S. Cohen
;
Millan S. Patel
, et al.
소스
Genet. Med. 23, 1873-1881 (2021)
Genetics in Medicine, 23(10), 1873-1881. Lippincott Williams & Wilkins
Genet Med
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7 .
Results from London Regional Clinical Genetics services over a 5-year period on germline TP53 testing in women diagnosed with breast cancer at <30 years
저자
by
Munaza Ahmed
;
Dara Vakili
;
Li Shan Guillemot
;
Angela F. Brady
;
Sabrina Talukdar
, et al.
소스
Journal of Medical Genetics
. 59:554-558
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7 .
Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service
저자
by
Eamonn R. Maher
;
Julian Adlard
;
Julian Barwell
;
Angela F. Brady
;
Paul Brennan
, et al.
소스
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7 .
Prospective clinical investigations of children with periodontal Ehlers–Danlos syndrome identify generalized lack of attached gingiva as a pathognomonic feature
저자
by
Glenda Sobey
;
Elizabeth Oakley-Hannibal
;
Ulrike Lepperdinger
;
Johannes Zschocke
;
Diana Johnson
, et al.
소스
Genetics in Medicine
. 23:316-322
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7 .
Randomised trial of population-based BRCA testing in Ashkenazi Jews: long-term secondary lifestyle behavioural outcomes
저자
by
Matthew Burnell
;
Faiza Gaba
;
Monika Sobocan
;
Rakshit Desai
;
Saskia Sanderson
, et al.
소스
BJOG : an international journal of obstetrics and gynaecologyREFERENCES
. 129(12)
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Scopus
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7 .
Variants in GNAI1 Cause a Syndrome Associated with Variable Features including Developmental Delay, Seizures and Hypotonia
저자
by
Lauren Brady
;
Bryan E. Hainline
;
Konrad Platzer
;
Muhammad Zafar
;
Corinna Powell
, et al.
소스
Genetics in medicine : official journal of the American College of Medical Genetics
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7 .
Classical-like Ehlers–Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility
저자
by
Rhoda Akilapa
;
Hanadi Kazkaz
;
Marion Bartlett
;
Glenda Sobey
;
Harveer Cheema
, et al.
소스
Genetics in Medicine
. 22:1576-1582
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7 .
Oral characteristics in adult individuals with periodontal Ehlers-Danlos syndrome
저자
by
Ulrike Lepperdinger
;
Chloe Angwin
;
Di Milnes
;
Glenda Sobey
;
Neeti Ghali
, et al.
소스
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