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Helen Brittain

Showing results (1-10 of 14) with videos related to

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Brain & Development|December 3, 2014
Epileptic spasms and early-onset photosensitive epilepsy in Patau syndrome: An EEG studyCarlotta Spagnoli, Umaiyal Kugathasan, Helen Brittain, et al.
American Journal of Medical Genetics. Part A|June 4, 2016
Achondroplasia: Really rhizomelic?Susan Cheng Shelmerdine, Helen Brittain, Owen J Arthurs, et al.
BMC Medical Genetics|July 28, 2017
Cascade Fumarate Hydratase mutation screening allows early detection of kidney tumour: a case reportMelanie M Y Chan, Angela Barnicoat, Faiz Mumtaz, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|October 8, 2022
ERF-related craniosynostosis and surgical management in the paediatric cohortFardad T Afshari, Pasquale Gallo, Ahad Shafi, et al.
Human Genetics|December 8, 2022
Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes ProjectEleanor G Seaby, N Simon Thomas, Amy Webb, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 9, 2022
A gene-to-patient approach uplifts novel disease gene discovery and identifies 18 putative novel disease genesEleanor G Seaby, Damian Smedley, Ana Lisa Taylor Tavares, 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.
Journal of Medical Genetics|October 30, 2021
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes ProjectSunayna Best, Jenny Lord, Matthew Roche, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 25, 2021
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosisZerin Hyder, Eduardo Calpena, Yang Pei, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 30, 2022
The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assayMargaret F Lippincott, Wanxue Xu, Abigail A Smith, et al.
Pageof 2

Showing results (1-10 of 14) with videos related to

Sort By:
Pageof 2
Brain & Development|December 3, 2014
Epileptic spasms and early-onset photosensitive epilepsy in Patau syndrome: An EEG studyCarlotta Spagnoli, Umaiyal Kugathasan, Helen Brittain, et al.
American Journal of Medical Genetics. Part A|June 4, 2016
Achondroplasia: Really rhizomelic?Susan Cheng Shelmerdine, Helen Brittain, Owen J Arthurs, et al.
BMC Medical Genetics|July 28, 2017
Cascade Fumarate Hydratase mutation screening allows early detection of kidney tumour: a case reportMelanie M Y Chan, Angela Barnicoat, Faiz Mumtaz, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|October 8, 2022
ERF-related craniosynostosis and surgical management in the paediatric cohortFardad T Afshari, Pasquale Gallo, Ahad Shafi, et al.
Human Genetics|December 8, 2022
Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes ProjectEleanor G Seaby, N Simon Thomas, Amy Webb, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 9, 2022
A gene-to-patient approach uplifts novel disease gene discovery and identifies 18 putative novel disease genesEleanor G Seaby, Damian Smedley, Ana Lisa Taylor Tavares, 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.
Journal of Medical Genetics|October 30, 2021
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes ProjectSunayna Best, Jenny Lord, Matthew Roche, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 25, 2021
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosisZerin Hyder, Eduardo Calpena, Yang Pei, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 30, 2022
The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assayMargaret F Lippincott, Wanxue Xu, Abigail A Smith, et al.
Pageof 2