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1 . Academic Journal
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections
저자
by
Borras, Silvia
;
Clark, Caroline
;
Dean, John
;
Miedzybrodzka, Zosia
;
Ross, Alison
, et al.
소스
In
Genetics in Medicine
February 2024 26(2)
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7 . Academic Journal
Meaningful and Measurable Health Domains in Huntington’s Disease: Large-Scale Validation of the Huntington’s Disease Health-Related Quality of Life Questionnaire Across Severity Stages
저자
by
Downie, Lorna
;
Jack, Roisin
;
Matheson, Kirsty
;
Miedzybrodzka, Zosia
;
Rae, Daniela
, et al.
소스
In
Value in Health
June 2019 22(6):712-720
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7 . Academic Journal
Parenting a child with clubfoot: A qualitative study
저자
by
Pietrucin-Materek, Marta
;
van Teijlingen, Edwin R.
;
Barker, Simon
;
Forrest Keenan, Karen
;
Miedzybrodzka, Zosia
.
소스
In
International Journal of Orthopaedic and Trauma Nursing
2011 15(4):176-184
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7 . Academic Journal
How young people find out about their family history of Huntington's disease
저자
by
Forrest Keenan, Karen
;
van Teijlingen, Edwin
;
McKee, Lorna
;
Miedzybrodzka, Zosia
;
Simpson, Sheila A.
.
소스
In
Social Science & Medicine
2009 68(10):1892-1900
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7 . Academic Journal
Alternative cascade-testing protocols for identifying and managing patients with familial hypercholesterolaemia: systematic reviews, qualitative study and cost-effectiveness analysis.
저자
by
Qureshi, Nadeem
;
Woods, Bethan
;
de Faria, Rita Neves
;
Saramago Goncalves, Pedro
;
Cox, Edward
, et al.
소스
Health Technology Assessment; Oct2023, Vol. 27 Issue 16, pvii-140, 154p
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7 . Dissertation/ Thesis
Molecular pathogenesis of 46,XX testicular disorder of sex development
저자
by
Pin~a Aguilar, Raul Eduardo
;
Miedzybrodzka, Zosia
;
Fowler, Paul A.
.
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5 . Academic Journal
Severe Hypertriglyceridaemia and Chylomicronaemia Syndrome—Causes, Clinical Presentation, and Therapeutic Options.
저자
by
Bashir, Bilal
;
Ho, Jan H.
;
Downie, Paul
;
Hamilton, Paul
;
Ferns, Gordon
, et al.
소스
Metabolites (2218-1989); May2023, Vol. 13 Issue 5, p621, 31p
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7 . Academic Journal
Clinical case study meets population cohort: identification of a BRCA1 pathogenic founder variant in Orcadians
저자
by
Kerr, Shona M.
;
Cowan, Emma
;
Klaric, Lucija
;
Bell, Christine
;
O’Sullivan, Dawn
, et al.
소스
European Journal of Human Genetics
. 31(5):588-595
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7 . Academic Journal
Germline intergenic duplications at Xq26.1 underlie Bazex–Dupré–Christol basal cell carcinoma susceptibility syndrome*.
저자
by
Liu, Yanshan
;
Banka, Siddharth
;
Huang, Yingzhi
;
Hardman‐Smart, Jonathan
;
Pye, Derek
, et al.
소스
British Journal of Dermatology
. Dec2022, Vol. 187 Issue 6, p948-961. 14p.
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7 . Periodical
Clinical case study meets population cohort: identification of a BRCA1pathogenic founder variant in Orcadians
저자
by
Kerr, Shona M.
;
Cowan, Emma
;
Klaric, Lucija
;
Bell, Christine
;
O’Sullivan, Dawn
, et al.
소스
European Journal of Human Genetics: EJHG; May 2023, Vol. 31 Issue: 5 p588-595, 8p
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