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Marja Hietala

Showing results (21-30 of 33) with videos related to

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Blood|March 5, 2013
Primary mediastinal large B-cell lymphoma segregating in a family: exome sequencing identifies MLL as a candidate predisposition geneSilva Saarinen, Eevi Kaasinen, Marja-Liisa Karjalainen-Lindsberg, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|November 11, 2009
Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutationsUlrike Schara, Hans-Jürgen Christen, Hacer Durmus, et al.
Elife|December 13, 2017
A homozygous <i>FANCM</i> mutation underlies a familial case of non-syndromic primary ovarian insufficiencyBaptiste Fouquet, Patrycja Pawlikowska, Sandrine Caburet, et al.
American Journal of Medical Genetics. Part A|February 18, 2017
TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complexLaura S Farach, William T Gibson, Steven P Sparagana, et al.
American Journal of Medical Genetics. Part A|November 14, 2025
Nance-Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier PhenotypesMaria K Haanpää, Chad R Haldeman-Englert, Marja Hietala, et al.
Neurobiology of Aging|November 14, 2016
SNCA mutation p.Ala53Glu is derived from a common founder in the Finnish populationPetra Pasanen, Eino Palin, Risto Pohjolan-Pirhonen, et al.
Genes, Chromosomes & Cancer|April 18, 2009
Array comparative genomic hybridization identifies a distinct DNA copy number profile in renal cell cancer associated with hereditary leiomyomatosis and renal cell cancerTaru A Koski, Heli J Lehtonen, Kowan J Jee, et al.
JCI Insight|February 8, 2019
Hypomorphic mutations of TRIP11 cause odontochondrodysplasiaAnika Wehrle, Tomasz M Witkos, Sheila Unger, et al.
Brain : a Journal of Neurology|April 19, 2007
Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromesJuliane S Müller, Agnes Herczegfalvi, Juan J Vilchez, et al.
Familial Cancer|January 22, 2010
No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndromePia Vahteristo, Taru A Koski, Laura Näätsaari, et al.
Pageof 4

Showing results (21-30 of 33) with videos related to

Sort By:
Pageof 4
Blood|March 5, 2013
Primary mediastinal large B-cell lymphoma segregating in a family: exome sequencing identifies MLL as a candidate predisposition geneSilva Saarinen, Eevi Kaasinen, Marja-Liisa Karjalainen-Lindsberg, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|November 11, 2009
Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutationsUlrike Schara, Hans-Jürgen Christen, Hacer Durmus, et al.
Elife|December 13, 2017
A homozygous <i>FANCM</i> mutation underlies a familial case of non-syndromic primary ovarian insufficiencyBaptiste Fouquet, Patrycja Pawlikowska, Sandrine Caburet, et al.
American Journal of Medical Genetics. Part A|February 18, 2017
TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complexLaura S Farach, William T Gibson, Steven P Sparagana, et al.
American Journal of Medical Genetics. Part A|November 14, 2025
Nance-Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier PhenotypesMaria K Haanpää, Chad R Haldeman-Englert, Marja Hietala, et al.
Neurobiology of Aging|November 14, 2016
SNCA mutation p.Ala53Glu is derived from a common founder in the Finnish populationPetra Pasanen, Eino Palin, Risto Pohjolan-Pirhonen, et al.
Genes, Chromosomes & Cancer|April 18, 2009
Array comparative genomic hybridization identifies a distinct DNA copy number profile in renal cell cancer associated with hereditary leiomyomatosis and renal cell cancerTaru A Koski, Heli J Lehtonen, Kowan J Jee, et al.
JCI Insight|February 8, 2019
Hypomorphic mutations of TRIP11 cause odontochondrodysplasiaAnika Wehrle, Tomasz M Witkos, Sheila Unger, et al.
Brain : a Journal of Neurology|April 19, 2007
Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromesJuliane S Müller, Agnes Herczegfalvi, Juan J Vilchez, et al.
Familial Cancer|January 22, 2010
No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndromePia Vahteristo, Taru A Koski, Laura Näätsaari, et al.
Pageof 4