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1 . Academic Journal
Validation of the familial chylomicronaemia syndrome (FCS) score in an ethnically diverse cohort from UK FCS registry: Implications for diagnosis and differentiation from multifactorial chylomicronaemia syndrome (MCS)
저자
by
Bashir, Bilal
;
Kwok, See
;
Wierzbicki, Anthony S.
;
Jones, Alan
;
Dawson, Charlotte
, et al.
소스
In
Atherosclerosis
April 2024 391
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7 . Academic Journal
A targeted gene panel illuminates pathogenesis in young people with unexplained kidney failure.
저자
by
Beal, Felicity
;
Forrester, Natalie
;
Watson, Elizabeth
;
Williams, Maggie
;
Buckton, Andrew
, et al.
소스
Journal of Nephrology (JNonline); Jun2024, Vol. 37 Issue 5, p1273-1284, 12p
Web of Science
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7 . Academic Journal
Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model.
저자
by
Bierzynska, Agnieszka
;
Bull, Katherine
;
Miellet, Sara
;
Dean, Philip
;
Neal, Chris
, et al.
소스
Pediatric Nephrology
. Nov2022, Vol. 37 Issue 11, p2643-2656. 14p. 3 Black and White Photographs, 2 Charts, 1 Graph.
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7 . Periodical
Genetic Landscape of Familial Chylomicronaemia Syndrome (FCS) and Multifactorial Chylomicronaemia Syndrome (MCS) in United Kingdom
저자
by
Bashir, Bilal
;
Forrester, Natalie
;
Downie, Paul
;
Dent, Carolyn
;
O’Sullivan, Dawn
, et al.
소스
Atherosclerosis Plus; September 2024, Vol. 57 Issue: 1, Number 1 Supplement 1
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7 . Academic Journal
A rare case of adult onset LPIN1 associated rhabdomyolysis.
저자
by
Minton, Thomas
;
Forrester, Natalie
;
Baba, Sami Al
;
Urankar, Kathryn
;
Brady, Stefen
.
소스
Neuromuscular Disorders
. Mar2020, Vol. 30 Issue 3, p241-245. 5p.
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7 . Periodical
Clinical and Genetic Features in a Series of Eight Unrelated Patients with Neuropathy Due to Glycyl-tRNA Synthetase (GARS) Variants
저자
by
Forrester, Natalie
;
Rattihalli, Rohini
;
Horvath, Rita
;
Maggi, Lorenzo
;
Manzur, Adnan
, et al.
소스
Journal of Neuromuscular Diseases; March 2020, Vol. 7 Issue: 2 p137-143, 7p
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7 . Academic Journal
Charcot Marie Tooth disease type 2S with late onset diaphragmatic weakness: An atypical case.
저자
by
Kulshrestha, Richa
;
Forrester, Natalie
;
Antoniadi, Thalia
;
Willis, Tracey
;
Sethuraman, Sethil Kumar
, et al.
소스
Neuromuscular Disorders
. Dec2018, Vol. 28 Issue 12, p1016-1021. 6p.
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7 . Periodical
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study
저자
by
Lord, Jenny
;
McMullan, Dominic J
;
Eberhardt, Ruth Y
;
Rinck, Gabriele
;
Hamilton, Susan J
, et al.
소스
The Lancet; February-March 2019, Vol. 393 Issue: 10173 p747-757, 11p
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7 . Academic Journal
Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.
저자
by
Antoniadi, Thalia
;
Buxton, Chris
;
Dennis, Gemma
;
Forrester, Natalie
;
Smith, Debbie
, et al.
소스
BMC Medical Genetics
. 9/22/2015, Vol. 16 Issue 1, p1-11. 11p.
Open Access (BioMed Central)
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7 . Academic Journal
The Heterogeneous Nature of Germline Mutations in NF1 Patients With Malignant Peripheral Serve Sheath Tumours (MPNSTs)
저자
by
Upadhyaya, Meena
;
Spurlock, Gill
;
Majounie, Elisa
;
Griffiths, Sian
;
Forrester, Natalie
, et al.
소스
Human Mutation
. Jul 01, 2006 27(7):1-7
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