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11 . Academic Journal
SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts
저자
by
Eva-Lena Stattin
;
Petra Henning
;
Joakim Klar
;
Emma McDermott
;
Christina Stecksen-Blicks
, et al.
소스
Scientific Reports, Vol 7, Iss 1, Pp 1-16 (2017)
Open Access (DOAJ)
Web of Science
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17 . Academic Journal
Chondrocytes Derived From Mesenchymal Stromal Cells and Induced Pluripotent Cells of Patients With Familial Osteochondritis Dissecans Exhibit an Endoplasmic Reticulum Stress Response and Defective Matrix Assembly
저자
by
Maojia Xu
;
Eva-Lena Stattin
;
Georgina Shaw
;
Dick Heinegård
;
Gareth Sullivan
, et al.
소스
Stem Cells Translational Medicine, Vol 5, Iss 9, Pp 1171-1181 (2016)
Open Access (OUP)
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17 . Academic Journal
Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations.
저자
by
Zheng Wang
;
Aritoshi Iida
;
Noriko Miyake
;
Koji M Nishiguchi
;
Kosuke Fujita
, et al.
소스
PLoS ONE, Vol 11, Iss 3, p e0150555 (2016)
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17 .
Palmoplantar keratoderma and digital clubbing in 2 sisters with hypertrophic osteoarthropathy
저자
by
Daniel Eriksson
;
David Gyll
;
Marie Virtanen
;
Niklas Dahl
;
Joakim Klar
, et al.
소스
JAAD Case Reports
. 31:133-136
Full Text (Clinical Key)
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17 .
Extending the phenotypes associated with
TRIO
gene variants in a cohort of 25 patients and review of the literature
저자
by
Gabriella Gazdagh
;
David Hunt
;
Anna Maria Cueto Gonzalez
;
Monserrat Pons Rodriguez
;
Ayeshah Chaudhry
, et al.
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Scientia
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17 .
Investigation of multiple populations highlight VEGFA polymorphisms to modulate anterior cruciate ligament injury
저자
by
Emile R. Chimusa
;
Paweł Cięszczyk
;
Kinga Humińska-Lisowska
;
Julian A. Feller
;
Javier Alvarez-Rumero
, et al.
소스
Journal of Orthopaedic Research, 40(7), 1604-1612. Wiley-Blackwell
Scopus
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17 .
Cohort profile : the Swedish study of SUDden cardiac Death in the Young (SUDDY) 2000-2010: a complete nationwide cohort of SCDs
저자
by
Eva-Lena Stattin
;
Emil Hagström
;
Niklas Dahl
;
Anneli Strömsöe
;
Angelica Maria Delgado-Vega
, et al.
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17 .
Family History and Warning Symptoms Precede Sudden Cardiac Death in Arrhythmogenic Right Ventricular Cardiomyopathy (from a Nationwide Study in Sweden)
저자
by
Angelica Maria Delgado-Vega
;
Varvara Kommata
;
Bodil Svennblad
;
Aase Wisten
;
Emil Hagström
, et al.
소스
Open Access (OpenAIRE)
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17 .
Celiprolol Treatment in Patients with Vascular Ehlers-Danlos Synurome
저자
by
Anna Stenborg
;
Martin Björck
;
Anders Wanhainen
;
Eva-Lena Stattin
;
Hassan Baderkhan
.
소스
Open Access (OpenAIRE)
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17 .
A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3
저자
by
Brittany Croft
;
Ann-Charlotte Thuresson
;
Vincent R. Harley
;
Carl‐Göran Arvidsson
;
Yasmin D. Hailer
, et al.
소스
Clinical Genetics
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