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Ana Topf

Showing results (11-20 of 32) with videos related to

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Orphanet Journal of Rare Diseases|September 8, 2017
Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular DystrophyElizabeth Harris, Ana Topf, Rita Barresi, et al.
BMC Genetics|June 21, 2013
Low-frequency intermediate penetrance variants in the ROCK1 gene predispose to Tetralogy of FallotJulian Palomino Doza, Ana Topf, Jamie Bentham, et al.
Journal of Medical Genetics|August 29, 2024
Loss-of-function variants in <i>JPH1</i> cause congenital myopathy with prominent facial and ocular involvementMridul Johari, Ana Topf, Chiara Folland, et al.
Nature Communications|February 28, 2024
Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic SyndromesIker Núñez-Carpintero, Maria Rigau, Mattia Bosio, et al.
Annals of Clinical and Translational Neurology|April 29, 2020
Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9Lindsay B Murphy, Olivia Schreiber-Katz, Karen Rafferty, et al.
Circulation. Cardiovascular Genetics|April 17, 2012
A common variant in the PTPN11 gene contributes to the risk of tetralogy of FallotJudith A Goodship, Darroch Hall, Ana Topf, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|November 28, 2017
Limb girdle muscular dystrophy due to mutations in <i>POMT2</i>Sofie Thurø Østergaard, Katherine Johnson, Tanya Stojkovic, et al.
NPJ Genomic Medicine|October 27, 2024
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnosesGerman Demidov, Burcu Yaldiz, José Garcia-Pelaez, et al.
Brain : a Journal of Neurology|November 7, 2016
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportionNasim Vasli, Elizabeth Harris, Jason Karamchandani, et al.
Muscle & Nerve|July 29, 2024
Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathyJohnnie Turner, Christine C Bruels, Audrey L Daugherty, et al.
Pageof 4

Showing results (11-20 of 32) with videos related to

Sort By:
Pageof 4
Orphanet Journal of Rare Diseases|September 8, 2017
Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular DystrophyElizabeth Harris, Ana Topf, Rita Barresi, et al.
BMC Genetics|June 21, 2013
Low-frequency intermediate penetrance variants in the ROCK1 gene predispose to Tetralogy of FallotJulian Palomino Doza, Ana Topf, Jamie Bentham, et al.
Journal of Medical Genetics|August 29, 2024
Loss-of-function variants in <i>JPH1</i> cause congenital myopathy with prominent facial and ocular involvementMridul Johari, Ana Topf, Chiara Folland, et al.
Nature Communications|February 28, 2024
Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic SyndromesIker Núñez-Carpintero, Maria Rigau, Mattia Bosio, et al.
Annals of Clinical and Translational Neurology|April 29, 2020
Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9Lindsay B Murphy, Olivia Schreiber-Katz, Karen Rafferty, et al.
Circulation. Cardiovascular Genetics|April 17, 2012
A common variant in the PTPN11 gene contributes to the risk of tetralogy of FallotJudith A Goodship, Darroch Hall, Ana Topf, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|November 28, 2017
Limb girdle muscular dystrophy due to mutations in <i>POMT2</i>Sofie Thurø Østergaard, Katherine Johnson, Tanya Stojkovic, et al.
NPJ Genomic Medicine|October 27, 2024
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnosesGerman Demidov, Burcu Yaldiz, José Garcia-Pelaez, et al.
Brain : a Journal of Neurology|November 7, 2016
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportionNasim Vasli, Elizabeth Harris, Jason Karamchandani, et al.
Muscle & Nerve|July 29, 2024
Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathyJohnnie Turner, Christine C Bruels, Audrey L Daugherty, et al.
Pageof 4