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J L Tolmie

Showing results (21-30 of 72) with videos related to

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Journal of Medical Genetics|November 1, 1995
The Aicardi-Goutières syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis)J L Tolmie, P Shillito, R Hughes-Benzie, et al.
Prenatal Diagnosis|December 17, 1997
Maternal serum alpha-fetoprotein levels in congenital nephrosisY J Crow, J L Tolmie, J A Crossley, et al.
American Journal of Medical Genetics|October 26, 2002
Cleft palate, hypotelorism, and hypospadias: Schilbach-Rott syndromeS K Joss, W Paterson, M D C Donaldson, et al.
Eye (London, England)|January 1, 1988
A familial syndrome with coats' reaction retinal angiomas, hair and nail defects and intracranial calcificationJ L Tolmie, B H Browne, P M McGettrick, et al.
The Journal of Bone and Joint Surgery. British Volume|January 1, 1988
Spondylothoracic and spondylocostal dysostosis. Hereditary forms of spinal deformityA P Roberts, A N Conner, J L Tolmie, et al.
Prenatal Diagnosis|December 17, 1997
Expect the worse or hope for the best? Prenatal diagnosis of geleophysic dysplasiaA C Rennie, G Stewart, M Whiteford, et al.
Journal of Medical Genetics|January 16, 1998
Dominantly inherited cerebral dysplasia: arachnoid cyst associated with mild mental handicap in a mother and her sonJ L Tolmie, R Day, B Fredericks, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|July 14, 2009
Semi-dominant X-chromosome linked learning disability with progressive ataxia, spasticity and dystonia associated with the novel MECP2 variant p.V122A: akin to the new MECP2 duplication syndrome?Catherine McWilliam, A Cooke, D Lobo, et al.
American Journal of Human Genetics|July 27, 1999
The molecular basis of malonyl-CoA decarboxylase deficiencyD R FitzPatrick, A Hill, J L Tolmie, et al.
Journal of Medical Genetics|November 1, 1988
Palmoplantar keratoderma, nail dystrophy, and hereditary motor and sensory neuropathy: an autosomal dominant traitJ L Tolmie, D E Wilcox, R McWilliam, et al.
Pageof 8

Showing results (21-30 of 72) with videos related to

Sort By:
Pageof 8
Journal of Medical Genetics|November 1, 1995
The Aicardi-Goutières syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis)J L Tolmie, P Shillito, R Hughes-Benzie, et al.
Prenatal Diagnosis|December 17, 1997
Maternal serum alpha-fetoprotein levels in congenital nephrosisY J Crow, J L Tolmie, J A Crossley, et al.
American Journal of Medical Genetics|October 26, 2002
Cleft palate, hypotelorism, and hypospadias: Schilbach-Rott syndromeS K Joss, W Paterson, M D C Donaldson, et al.
Eye (London, England)|January 1, 1988
A familial syndrome with coats' reaction retinal angiomas, hair and nail defects and intracranial calcificationJ L Tolmie, B H Browne, P M McGettrick, et al.
The Journal of Bone and Joint Surgery. British Volume|January 1, 1988
Spondylothoracic and spondylocostal dysostosis. Hereditary forms of spinal deformityA P Roberts, A N Conner, J L Tolmie, et al.
Prenatal Diagnosis|December 17, 1997
Expect the worse or hope for the best? Prenatal diagnosis of geleophysic dysplasiaA C Rennie, G Stewart, M Whiteford, et al.
Journal of Medical Genetics|January 16, 1998
Dominantly inherited cerebral dysplasia: arachnoid cyst associated with mild mental handicap in a mother and her sonJ L Tolmie, R Day, B Fredericks, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|July 14, 2009
Semi-dominant X-chromosome linked learning disability with progressive ataxia, spasticity and dystonia associated with the novel MECP2 variant p.V122A: akin to the new MECP2 duplication syndrome?Catherine McWilliam, A Cooke, D Lobo, et al.
American Journal of Human Genetics|July 27, 1999
The molecular basis of malonyl-CoA decarboxylase deficiencyD R FitzPatrick, A Hill, J L Tolmie, et al.
Journal of Medical Genetics|November 1, 1988
Palmoplantar keratoderma, nail dystrophy, and hereditary motor and sensory neuropathy: an autosomal dominant traitJ L Tolmie, D E Wilcox, R McWilliam, et al.
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