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Emma Clement

Showing results (11-20 of 38) with videos related to

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Journal of Medical Genetics|December 18, 2025
Analysis of familial exudative vitreoretinopathy (FEVR) cases in the UK 100 000 genomes project increases diagnostic rate and implicates heterozygous <i>CTNND1</i> mutations in FEVRDong Sun, Robert H Henderson, Emma Clement, et al.
Archives of Neurology|September 14, 2011
Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutationsAndrea Klein, Heinz Jungbluth, Emma Clement, et al.
Hormone Research in Paediatrics|March 18, 2019
Sotos Syndrome Presenting with Neonatal Hyperinsulinaemic Hypoglycaemia, Extensive Thrombosis, and Multisystem InvolvementManuela Cerbone, Emma Clement, Martin McClatchey, et al.
International Journal of Molecular Sciences|July 29, 2025
A New GlyT2 Variant Associated with HyperekplexiaJorge Sarmiento-Jiménez, Raquel Felipe, Enrique Núñez, et al.
Journal of Human Genetics|March 2, 2023
A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotypeMarija Kojic, Nour E H Abbassi, Ting-Yu Lin, 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.
Orphanet Journal of Rare Diseases|February 9, 2017
An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypesPolona Le Quesne Stabej, Chela James, Louise Ocaka, et al.
Clinical Dysmorphology|July 29, 2016
Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrumMark J Hamilton, Ruth Newbury-Ecob, Muriel Holder-Espinasse, et al.
Neuroradiology|June 4, 2024
Incomplete partition type II in its various manifestations: isolated, in association with EVA, syndromic, and beyond; a multicentre international studyFelice D'Arco, Sedat G Kandemirli, Hisham M Dahmoush, et al.
NIHR Open Research|October 25, 2023
Mixed-methods evaluation of the NHS Genomic Medicine Service for paediatric rare diseases: study protocolCeline Lewis, James Buchanan, Angus Clarke, et al.
Pageof 4

Showing results (11-20 of 38) with videos related to

Sort By:
Pageof 4
Journal of Medical Genetics|December 18, 2025
Analysis of familial exudative vitreoretinopathy (FEVR) cases in the UK 100 000 genomes project increases diagnostic rate and implicates heterozygous <i>CTNND1</i> mutations in FEVRDong Sun, Robert H Henderson, Emma Clement, et al.
Archives of Neurology|September 14, 2011
Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutationsAndrea Klein, Heinz Jungbluth, Emma Clement, et al.
Hormone Research in Paediatrics|March 18, 2019
Sotos Syndrome Presenting with Neonatal Hyperinsulinaemic Hypoglycaemia, Extensive Thrombosis, and Multisystem InvolvementManuela Cerbone, Emma Clement, Martin McClatchey, et al.
International Journal of Molecular Sciences|July 29, 2025
A New GlyT2 Variant Associated with HyperekplexiaJorge Sarmiento-Jiménez, Raquel Felipe, Enrique Núñez, et al.
Journal of Human Genetics|March 2, 2023
A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotypeMarija Kojic, Nour E H Abbassi, Ting-Yu Lin, 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.
Orphanet Journal of Rare Diseases|February 9, 2017
An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypesPolona Le Quesne Stabej, Chela James, Louise Ocaka, et al.
Clinical Dysmorphology|July 29, 2016
Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrumMark J Hamilton, Ruth Newbury-Ecob, Muriel Holder-Espinasse, et al.
Neuroradiology|June 4, 2024
Incomplete partition type II in its various manifestations: isolated, in association with EVA, syndromic, and beyond; a multicentre international studyFelice D'Arco, Sedat G Kandemirli, Hisham M Dahmoush, et al.
NIHR Open Research|October 25, 2023
Mixed-methods evaluation of the NHS Genomic Medicine Service for paediatric rare diseases: study protocolCeline Lewis, James Buchanan, Angus Clarke, et al.
Pageof 4