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J A Hurst

Showing results (31-40 of 44) with videos related to

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Clinical Dysmorphology|July 1, 1996
Three infants of diabetic mothers with malformations of left-right asymmetry--further evidence for the aetiological role of diabetes in this malformation spectrumA Slavotinek, E Hellen, S Gould, et al.
Nature|October 5, 2001
A forkhead-domain gene is mutated in a severe speech and language disorderC S Lai, S E Fisher, J A Hurst, et al.
Journal of Medical Genetics|August 6, 2002
Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practiceD J Halliday, S Hutchinson, L Lonie, et al.
Clinical Dysmorphology|May 8, 1998
Three patients with the osteochondrodysplasia and hypertrichosis syndrome--Cantu syndromeE M Rosser, H Kaariainen, J A Hurst, et al.
American Journal of Human Genetics|May 1, 1996
Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndromeS F Slaney, M Oldridge, J A Hurst, et al.
Nature Genetics|March 31, 2000
Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossificationA O Wilkie, Z Tang, N Elanko, et al.
Journal of Medical Genetics|June 1, 1997
Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndromeS Lindsay, M Ireland, O O'Brien, et al.
American Journal of Human Genetics|July 6, 2000
The SPCH1 region on human 7q31: genomic characterization of the critical interval and localization of translocations associated with speech and language disorderC S Lai, S E Fisher, J A Hurst, et al.
Nature|June 26, 1997
Congenital leptin deficiency is associated with severe early-onset obesity in humansC T Montague, I S Farooqi, J P Whitehead, et al.
Journal of Medical Genetics|March 10, 2001
Clinical studies on submicroscopic subtelomeric rearrangements: a checklistB B de Vries, S M White, S J Knight, et al.
Pageof 5

Showing results (31-40 of 44) with videos related to

Sort By:
Pageof 5
Clinical Dysmorphology|July 1, 1996
Three infants of diabetic mothers with malformations of left-right asymmetry--further evidence for the aetiological role of diabetes in this malformation spectrumA Slavotinek, E Hellen, S Gould, et al.
Nature|October 5, 2001
A forkhead-domain gene is mutated in a severe speech and language disorderC S Lai, S E Fisher, J A Hurst, et al.
Journal of Medical Genetics|August 6, 2002
Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practiceD J Halliday, S Hutchinson, L Lonie, et al.
Clinical Dysmorphology|May 8, 1998
Three patients with the osteochondrodysplasia and hypertrichosis syndrome--Cantu syndromeE M Rosser, H Kaariainen, J A Hurst, et al.
American Journal of Human Genetics|May 1, 1996
Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndromeS F Slaney, M Oldridge, J A Hurst, et al.
Nature Genetics|March 31, 2000
Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossificationA O Wilkie, Z Tang, N Elanko, et al.
Journal of Medical Genetics|June 1, 1997
Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndromeS Lindsay, M Ireland, O O'Brien, et al.
American Journal of Human Genetics|July 6, 2000
The SPCH1 region on human 7q31: genomic characterization of the critical interval and localization of translocations associated with speech and language disorderC S Lai, S E Fisher, J A Hurst, et al.
Nature|June 26, 1997
Congenital leptin deficiency is associated with severe early-onset obesity in humansC T Montague, I S Farooqi, J P Whitehead, et al.
Journal of Medical Genetics|March 10, 2001
Clinical studies on submicroscopic subtelomeric rearrangements: a checklistB B de Vries, S M White, S J Knight, et al.
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