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Jane A Hurst

Showing results (11-20 of 53) with videos related to

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Clinical Endocrinology|December 21, 2020
Syndromic Forms of Hyperinsulinaemic Hypoglycaemia-A 15-year follow-up StudyEirini Kostopoulou, Antonia Dastamani, Maria Güemes, et al.
Journal of Human Genetics|July 11, 2014
A new acro-osteolysis syndrome caused by duplications including PTHLHMary J Gray, Margriet van Kogelenberg, Rachel Beddow, et al.
BMC Medical Genetics|November 13, 2012
Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressureCharlotte L Bendon, Aimée L Fenwick, Jane A Hurst, et al.
American Journal of Medical Genetics. Part A|April 2, 2010
The phenotype of Floating-Harbor syndrome in 10 patientsSusan M White, Angela Morgan, Annette Da Costa, et al.
Human Mutation|March 18, 2011
Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decayDagan Jenkins, Gareth Baynam, Luc De Catte, et al.
European Journal of Endocrinology|May 29, 2019
Persistent hyperinsulinaemic hypoglycaemia in children with Rubinstein-Taybi syndromeAlena Welters, Ranna El-Khairi, Antonia Dastamani, et al.
Journal of Medical Genetics|March 20, 2016
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysisNatalie Trump, Amy McTague, Helen Brittain, et al.
Pediatrics|July 21, 2010
Prevalence and complications of single-gene and chromosomal disorders in craniosynostosisAndrew O M Wilkie, Jo C Byren, Jane A Hurst, et al.
European Journal of Human Genetics : EJHG|February 18, 2011
Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3Jane A Hurst, Dagan Jenkins, Pradeep C Vasudevan, et al.
European Journal of Human Genetics : EJHG|August 14, 2014
Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literatureMerel Klaassens, Deborah Morrogh, Elisabeth M Rosser, et al.
Pageof 6

Showing results (11-20 of 53) with videos related to

Sort By:
Pageof 6
Clinical Endocrinology|December 21, 2020
Syndromic Forms of Hyperinsulinaemic Hypoglycaemia-A 15-year follow-up StudyEirini Kostopoulou, Antonia Dastamani, Maria Güemes, et al.
Journal of Human Genetics|July 11, 2014
A new acro-osteolysis syndrome caused by duplications including PTHLHMary J Gray, Margriet van Kogelenberg, Rachel Beddow, et al.
BMC Medical Genetics|November 13, 2012
Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressureCharlotte L Bendon, Aimée L Fenwick, Jane A Hurst, et al.
American Journal of Medical Genetics. Part A|April 2, 2010
The phenotype of Floating-Harbor syndrome in 10 patientsSusan M White, Angela Morgan, Annette Da Costa, et al.
Human Mutation|March 18, 2011
Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decayDagan Jenkins, Gareth Baynam, Luc De Catte, et al.
European Journal of Endocrinology|May 29, 2019
Persistent hyperinsulinaemic hypoglycaemia in children with Rubinstein-Taybi syndromeAlena Welters, Ranna El-Khairi, Antonia Dastamani, et al.
Journal of Medical Genetics|March 20, 2016
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysisNatalie Trump, Amy McTague, Helen Brittain, et al.
Pediatrics|July 21, 2010
Prevalence and complications of single-gene and chromosomal disorders in craniosynostosisAndrew O M Wilkie, Jo C Byren, Jane A Hurst, et al.
European Journal of Human Genetics : EJHG|February 18, 2011
Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3Jane A Hurst, Dagan Jenkins, Pradeep C Vasudevan, et al.
European Journal of Human Genetics : EJHG|August 14, 2014
Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literatureMerel Klaassens, Deborah Morrogh, Elisabeth M Rosser, et al.
Pageof 6