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1 . Academic Journal
Amniotic band sequence in vascular Ehlers-Danlos Syndrome (EDS): Experience of the EDS National Diagnostic Services in the UK
저자
by
Schirwani, Schaida
;
van Dijk, Fleur S.
;
Cauldwell, Matthew
;
Harrison, Rachel E.
;
Kraus, Alison
, et al.
소스
In
European Journal of Medical Genetics
October 2022 65(10)
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7 . Academic Journal
Classical-like Ehlers–Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility
저자
by
Green, Claire
;
Ghali, Neeti
;
Akilapa, Rhoda
;
Angwin, Chloe
;
Baker, Duncan
, et al.
소스
In
Genetics in Medicine
October 2020 22(10):1576-1582
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7 . Academic Journal
DSE associated musculocontractural EDS, a milder phenotype or phenotypic variability
저자
by
Schirwani, Schaida
;
Metcalfe, Kay
;
Wagner, Bart
;
Berry, Ian
;
Sobey, Glenda
, et al.
소스
In
European Journal of Medical Genetics
April 2020 63(4)
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7 . Academic Journal
An exemplary model of genetic counselling for highly specialised services.
저자
by
Harris, Juliette
;
Bartlett, Marion
;
Baker, Duncan
;
Berlin, Cheryl
;
Bowen, Jessica
, et al.
소스
Journal of Community Genetics; Apr2023, Vol. 14 Issue 2, p115-119, 5p
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7 . Academic Journal
Oral characteristics in adult individuals with periodontal Ehlers‐Danlos syndrome.
저자
by
Lepperdinger, Ulrike
;
Angwin, Chloe
;
Milnes, Di
;
Sobey, Glenda
;
Ghali, Neeti
, et al.
소스
Journal of Clinical Periodontology
. Dec2022, Vol. 49 Issue 12, p1244-1252. 9p. 2 Color Photographs, 2 Charts, 1 Graph.
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7 . Academic Journal
Rough endoplasmic reticulum expansion: a consistent finding in a patient cohort with vascular Ehlers-Danlos Syndrome and Osteogenesis Imperfecta.
저자
by
Redman, Melody G
;
Wagner, Bart E
;
Cadden, Sophie
;
Baker, Duncan
;
Bowen, Jessica M
, et al.
소스
Ultrastructural Pathology
. 2021, Vol. 45 Issue 6, p414-420. 7p.
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7 . Periodical
Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14(mcEDS-CHST14)
저자
by
Minatogawa, Mari
;
Unzaki, Ai
;
Morisaki, Hiroko
;
Syx, Delfien
;
Sonoda, Tohru
, et al.
소스
Journal of Medical Genetics (JMG); 2022, Vol. 59 Issue: 9 p865-877, 13p
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7 . Academic Journal
Arterial complications in classical Ehlers-Danlos syndrome: a case series.
저자
by
Angwin, Chloe
;
Brady, Angela F.
;
Pope, F. Michael
;
Vandersteen, Anthony
;
Baker, Duncan
, et al.
소스
Journal of Medical Genetics; Nov2020, Vol. 57 Issue 11, p769-776, 8p
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7 . Academic Journal
Enrichment of Rare Variants in Loeys-Dietz Syndrome Genes in Spontaneous Coronary Artery Dissection but Not in Severe Fibromuscular Dysplasia.
저자
by
Verstraeten, Aline
;
Perik, Melanie H.A.M.
;
Baranowska, Anna A.
;
Meester, Josephina A.N.
;
Van Den Heuvel, Lotte
, et al.
소스
Circulation
. 9/8/2020, Vol. 142 Issue 10, p1021-1024. 4p.
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7 . Academic Journal
Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers‐Danlos syndrome.
저자
by
Ayoub, Sandy
;
Ghali, Neeti
;
Angwin, Chloe
;
Baker, Duncan
;
Baffini, Stella
, et al.
소스
American Journal of Medical Genetics. Part A; May2020, Vol. 182 Issue 5, p994-1007, 14p
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