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Marja Hietala

Showing results (11-20 of 33) with videos related to

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Parkinsonism & Related Disorders|December 4, 2014
Epidemiology of Huntington's disease in FinlandJussi O T Sipilä, Marja Hietala, Ari Siitonen, et al.
European Journal of Human Genetics : EJHG|January 17, 2008
What is ideal genetic counselling? A survey of current international guidelinesElina Rantanen, Marja Hietala, Ulf Kristoffersson, et al.
European Journal of Medical Genetics|March 2, 2023
Overlap between EEC and AEC syndrome and immunodeficiency in a preterm infant with a TP63 variantKjell Helenius, Liisa Ojala, Leena Kainulainen, et al.
European Journal of Human Genetics : EJHG|May 15, 2008
Regulations and practices of genetic counselling in 38 European countries: the perspective of national representativesElina Rantanen, Marja Hietala, Ulf Kristoffersson, et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|November 19, 2023
Prenatal Coffin-Siris Syndrome: Expanding the Phenotypic and Genotypic Spectrum of the DiseaseSini Keskinen, Teija Paakkola, Mirjami Mattila, et al.
Journal of Medical Genetics|July 20, 2021
Novel germline variant in the histone demethylase and transcription regulator KDM4C induces a multi-cancer phenotypeRiku Katainen, Iikki Donner, Maritta Räisänen, et al.
Molecular Genetics and Metabolism|January 7, 2012
Exploring the transcriptomic variation caused by the Finnish founder mutation of lysinuric protein intolerance (LPI)Maaria Tringham, Johanna Kurko, Laura Tanner, et al.
American Journal of Human Genetics|April 9, 2013
PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndromePeter M Krawitz, Yoshiko Murakami, Angelika Rieß, et al.
Journal of Molecular Biology|August 6, 2014
Molecular analysis of two novel missense mutations in the GDF5 proregion that reduce protein activity and are associated with brachydactyly type CKatja Stange, Tino Thieme, Karen Hertel, et al.
Human Mutation|September 27, 2002
Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish originSylvain Hanein, Isabelle Perrault, Päivi Olsen, et al.
Pageof 4

Showing results (11-20 of 33) with videos related to

Sort By:
Pageof 4
Parkinsonism & Related Disorders|December 4, 2014
Epidemiology of Huntington's disease in FinlandJussi O T Sipilä, Marja Hietala, Ari Siitonen, et al.
European Journal of Human Genetics : EJHG|January 17, 2008
What is ideal genetic counselling? A survey of current international guidelinesElina Rantanen, Marja Hietala, Ulf Kristoffersson, et al.
European Journal of Medical Genetics|March 2, 2023
Overlap between EEC and AEC syndrome and immunodeficiency in a preterm infant with a TP63 variantKjell Helenius, Liisa Ojala, Leena Kainulainen, et al.
European Journal of Human Genetics : EJHG|May 15, 2008
Regulations and practices of genetic counselling in 38 European countries: the perspective of national representativesElina Rantanen, Marja Hietala, Ulf Kristoffersson, et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|November 19, 2023
Prenatal Coffin-Siris Syndrome: Expanding the Phenotypic and Genotypic Spectrum of the DiseaseSini Keskinen, Teija Paakkola, Mirjami Mattila, et al.
Journal of Medical Genetics|July 20, 2021
Novel germline variant in the histone demethylase and transcription regulator KDM4C induces a multi-cancer phenotypeRiku Katainen, Iikki Donner, Maritta Räisänen, et al.
Molecular Genetics and Metabolism|January 7, 2012
Exploring the transcriptomic variation caused by the Finnish founder mutation of lysinuric protein intolerance (LPI)Maaria Tringham, Johanna Kurko, Laura Tanner, et al.
American Journal of Human Genetics|April 9, 2013
PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndromePeter M Krawitz, Yoshiko Murakami, Angelika Rieß, et al.
Journal of Molecular Biology|August 6, 2014
Molecular analysis of two novel missense mutations in the GDF5 proregion that reduce protein activity and are associated with brachydactyly type CKatja Stange, Tino Thieme, Karen Hertel, et al.
Human Mutation|September 27, 2002
Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish originSylvain Hanein, Isabelle Perrault, Päivi Olsen, et al.
Pageof 4