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Novel human pathological mutations. Gene symbol: SPRED1. Disease: Legius syndrome.
Hum Genet. 2010 Jan;127(1):111.
Hum Genet. 2010.
PMID: 20108420
No abstract available.
Identification of five novel SPRED1 germline mutations in Legius syndrome.
Laycock-van Spyk S, Jim HP, Thomas L, Spurlock G, Fares L, Palmer-Smith S, Kini U, Saggar A, Patton M, Mautner V, Pilz DT, Upadhyaya M.
Laycock-van Spyk S, et al. Among authors: jim hp.
Clin Genet. 2011 Jul;80(1):93-6. doi: 10.1111/j.1399-0004.2010.01618.x.
Clin Genet. 2011.
PMID: 21649642
No abstract available.
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Novel human pathological mutations. Gene symbol: SPRED1. Disease: Legius syndrome.
Jim HP, Upadhyaya M.
Jim HP, et al.
Hum Genet. 2010 Jan;127(1):111.
Hum Genet. 2010.
PMID: 20108385
No abstract available.
Item in Clipboard
Novel human pathological mutations. Gene symbol: SPRED1. Disease: Legius syndrome.
Jim HP, Upadhyaya M.
Jim HP, et al.
Hum Genet. 2010 Jan;127(1):111-2.
Hum Genet. 2010.
PMID: 20108386
No abstract available.
Item in Clipboard
Novel human pathological mutations. Gene symbol: SPRED1. Disease: Legius syndrome.
Jim HP, Upadhyaya M.
Jim HP, et al.
Hum Genet. 2010 Jan;127(1):111.
Hum Genet. 2010.
PMID: 20108421
No abstract available.
Item in Clipboard
Novel human pathological mutations. Gene symbol: SPRED1. Disease: Legius syndrome.
Jim HP, Upadhyaya M.
Jim HP, et al.
Hum Genet. 2010 Jan;127(1):112.
Hum Genet. 2010.
PMID: 20108422
No abstract available.
Item in Clipboard
Confirmation that the specific SSLP microsatellite allele 4qA161 segregates with fascioscapulohumeral muscular dystrophy (FSHD) in a cohort of multiplex and simplex FSHD families.
Spurlock G, Jim HP, Upadhyaya M.
Spurlock G, et al. Among authors: jim hp.
Muscle Nerve. 2010 Nov;42(5):820-1. doi: 10.1002/mus.21766.
Muscle Nerve. 2010.
PMID: 20928905
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SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype.
Spurlock G, Bennett E, Chuzhanova N, Thomas N, Jim HP, Side L, Davies S, Haan E, Kerr B, Huson SM, Upadhyaya M.
Spurlock G, et al. Among authors: jim hp.
J Med Genet. 2009 Jul;46(7):431-7. doi: 10.1136/jmg.2008.065474. Epub 2009 May 13.
J Med Genet. 2009.
PMID: 19443465
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