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T Cullup

Showing results (1-10 of 11) with videos related to

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The British Journal of Dermatology|June 24, 2006
A novel ABCA12 mutation underlying a case of Harlequin ichthyosisS F Rajpar, T Cullup, D P Kelsell, et al.
Clinical and Experimental Dermatology|June 10, 2017
Interleukin-10 receptor mutation presenting with severe nappy ulceration and infantile inflammatory bowel diseaseB S McDonald, S Narayanan, M Elawad, et al.
Neuromuscular Disorders : NMD|December 14, 2011
X-linked myotubular myopathy due to a complex rearrangement involving a duplication of MTM1 exon 10N Trump, T Cullup, J B G M Verheij, et al.
Gynecologic Oncology|September 1, 2006
Somatic mitochondrial DNA mutations in primary and metastatic ovarian cancerP O Van Trappen, T Cullup, R Troke, et al.
Clinical Genetics|December 6, 2017
A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephalyM Ishida, T Cullup, C Boustred, et al.
Neuromuscular Disorders : NMD|April 7, 2012
Relative frequency of congenital muscular dystrophy subtypes: analysis of the UK diagnostic service 2001-2008E M Clement, L Feng, R Mein, et al.
Neuromuscular Disorders : NMD|February 12, 2013
Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United KingdomL Maggi, M Scoto, S Cirak, et al.
Neuromuscular Disorders : NMD|October 19, 2010
Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myastheniaP Munot, D Lashley, H Jungbluth, et al.
Neuromuscular Disorders : NMD|July 13, 2012
Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvementT Cullup, P J Lamont, S Cirak, et al.
The British Journal of Dermatology|November 8, 2007
Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosisA C Thomas, C Sinclair, N Mahmud, et al.
Pageof 2

Showing results (1-10 of 11) with videos related to

Sort By:
Pageof 2
The British Journal of Dermatology|June 24, 2006
A novel ABCA12 mutation underlying a case of Harlequin ichthyosisS F Rajpar, T Cullup, D P Kelsell, et al.
Clinical and Experimental Dermatology|June 10, 2017
Interleukin-10 receptor mutation presenting with severe nappy ulceration and infantile inflammatory bowel diseaseB S McDonald, S Narayanan, M Elawad, et al.
Neuromuscular Disorders : NMD|December 14, 2011
X-linked myotubular myopathy due to a complex rearrangement involving a duplication of MTM1 exon 10N Trump, T Cullup, J B G M Verheij, et al.
Gynecologic Oncology|September 1, 2006
Somatic mitochondrial DNA mutations in primary and metastatic ovarian cancerP O Van Trappen, T Cullup, R Troke, et al.
Clinical Genetics|December 6, 2017
A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephalyM Ishida, T Cullup, C Boustred, et al.
Neuromuscular Disorders : NMD|April 7, 2012
Relative frequency of congenital muscular dystrophy subtypes: analysis of the UK diagnostic service 2001-2008E M Clement, L Feng, R Mein, et al.
Neuromuscular Disorders : NMD|February 12, 2013
Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United KingdomL Maggi, M Scoto, S Cirak, et al.
Neuromuscular Disorders : NMD|October 19, 2010
Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myastheniaP Munot, D Lashley, H Jungbluth, et al.
Neuromuscular Disorders : NMD|July 13, 2012
Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvementT Cullup, P J Lamont, S Cirak, et al.
The British Journal of Dermatology|November 8, 2007
Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosisA C Thomas, C Sinclair, N Mahmud, et al.
Pageof 2