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Cecilie F Rustad

Showing results (21-30 of 32) with videos related to

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Circulation. Cardiovascular Genetics|May 17, 2013
The cardiac phenotype in patients with a CHD7 mutationNicole Corsten-Janssen, Wilhelmina S Kerstjens-Frederikse, Gideon J du Marchie Sarvaas, et al.
Plos One|March 15, 2016
Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 MutationsZheng Wang, Aritoshi Iida, Noriko Miyake, et al.
American Journal of Medical Genetics. Part A|July 18, 2019
PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new casesLucy Bownass, Stephen Abbs, Ruth Armstrong, et al.
Journal of Medical Genetics|October 13, 2017
Heterozygous mutations affecting the protein kinase domain of <i>CDK13</i> cause a syndromic form of developmental delay and intellectual disabilityMark J Hamilton, Richard C Caswell, Natalie Canham, et al.
Journal of Inherited Metabolic Disease|February 13, 2019
Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patientsMari-Anne Vals, Angel Ashikov, Pilvi Ilves, et al.
European Journal of Human Genetics : EJHG|July 8, 2026
Tyrosine kinase inhibitors in Kosaki/Penttinen syndromes: new reports, follow-up of treated individuals and literature reviewCéline Jost, Alessandro Mussa, Jean-Emmanuel Kurtz, et al.
Journal of Medical Genetics|July 24, 2025
'Knowing and Treating Kosaki/Penttinen syndrome' international collaborative consortium: recommendations for follow-up, natural history and a real-life observational study about safety and efficacy profile of tyrosine kinase inhibitorsYordi-Michaël Bouhatous, Cecilie Bredrup, Agnes Maurer, et al.
American Journal of Human Genetics|June 17, 2014
PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasiaAsbjørg Stray-Pedersen, Paul H Backe, Hanne S Sorte, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 31, 2018
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathiesBo Yuan, Juanita Neira, Davut Pehlivan, et al.
American Journal of Medical Genetics. Part A|July 29, 2022
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER dataAmy Hardcastle, Aliska M Berry, Ian M Campbell, et al.
Pageof 4

Showing results (21-30 of 32) with videos related to

Sort By:
Pageof 4
Circulation. Cardiovascular Genetics|May 17, 2013
The cardiac phenotype in patients with a CHD7 mutationNicole Corsten-Janssen, Wilhelmina S Kerstjens-Frederikse, Gideon J du Marchie Sarvaas, et al.
Plos One|March 15, 2016
Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 MutationsZheng Wang, Aritoshi Iida, Noriko Miyake, et al.
American Journal of Medical Genetics. Part A|July 18, 2019
PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new casesLucy Bownass, Stephen Abbs, Ruth Armstrong, et al.
Journal of Medical Genetics|October 13, 2017
Heterozygous mutations affecting the protein kinase domain of <i>CDK13</i> cause a syndromic form of developmental delay and intellectual disabilityMark J Hamilton, Richard C Caswell, Natalie Canham, et al.
Journal of Inherited Metabolic Disease|February 13, 2019
Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patientsMari-Anne Vals, Angel Ashikov, Pilvi Ilves, et al.
European Journal of Human Genetics : EJHG|July 8, 2026
Tyrosine kinase inhibitors in Kosaki/Penttinen syndromes: new reports, follow-up of treated individuals and literature reviewCéline Jost, Alessandro Mussa, Jean-Emmanuel Kurtz, et al.
Journal of Medical Genetics|July 24, 2025
'Knowing and Treating Kosaki/Penttinen syndrome' international collaborative consortium: recommendations for follow-up, natural history and a real-life observational study about safety and efficacy profile of tyrosine kinase inhibitorsYordi-Michaël Bouhatous, Cecilie Bredrup, Agnes Maurer, et al.
American Journal of Human Genetics|June 17, 2014
PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasiaAsbjørg Stray-Pedersen, Paul H Backe, Hanne S Sorte, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 31, 2018
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathiesBo Yuan, Juanita Neira, Davut Pehlivan, et al.
American Journal of Medical Genetics. Part A|July 29, 2022
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER dataAmy Hardcastle, Aliska M Berry, Ian M Campbell, et al.
Pageof 4