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Katrin Ounap

Showing results (31-40 of 38) with videos related to

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European Journal of Medical Genetics|January 28, 2014
Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephalySarah Grotto, Valérie Drouin-Garraud, Katrin Ounap, et al.
Clinical Epigenetics|January 9, 2020
Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signatureAndrea Ciolfi, Erfan Aref-Eshghi, Simone Pizzi, et al.
Neuropediatrics|January 11, 2014
Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plusJohn H Livingston, Josephine Mayer, Emma Jenkinson, et al.
Journal of Inherited Metabolic Disease|December 5, 2024
Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendationsVeronika Holubova, Rita Barone, Stephanie Grunewald, et al.
Neurology|May 9, 2014
Novel (ovario) leukodystrophy related to AARS2 mutationsCristina Dallabona, Daria Diodato, Sietske H Kevelam, et al.
Epilepsia|April 2, 2026
Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain-expressed sodium channelopathiesSopio Gverdtsiteli, Sebastian Ortiz, Tobias Brünger, et al.
Human Genetics|May 24, 2024
The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromesNiels Vos, Sadegheh Haghshenas, Liselot van der Laan, et al.
Nature Genetics|January 24, 2012
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plusBeverley H Anderson, Paul R Kasher, Josephine Mayer, et al.
Pageof 4

Showing results (31-40 of 38) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 38 results.
European Journal of Medical Genetics|January 28, 2014
Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephalySarah Grotto, Valérie Drouin-Garraud, Katrin Ounap, et al.
Clinical Epigenetics|January 9, 2020
Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signatureAndrea Ciolfi, Erfan Aref-Eshghi, Simone Pizzi, et al.
Neuropediatrics|January 11, 2014
Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plusJohn H Livingston, Josephine Mayer, Emma Jenkinson, et al.
Journal of Inherited Metabolic Disease|December 5, 2024
Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendationsVeronika Holubova, Rita Barone, Stephanie Grunewald, et al.
Neurology|May 9, 2014
Novel (ovario) leukodystrophy related to AARS2 mutationsCristina Dallabona, Daria Diodato, Sietske H Kevelam, et al.
Epilepsia|April 2, 2026
Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain-expressed sodium channelopathiesSopio Gverdtsiteli, Sebastian Ortiz, Tobias Brünger, et al.
Human Genetics|May 24, 2024
The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromesNiels Vos, Sadegheh Haghshenas, Liselot van der Laan, et al.
Nature Genetics|January 24, 2012
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plusBeverley H Anderson, Paul R Kasher, Josephine Mayer, et al.
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