Search research articles
Contact Us
Filters
Showing results (1-10 of 12) with videos related to
Page
of 2
Sort By:
Duodecim; Laaketieteellinen Aikakauskirja
|
May 23, 2012
[Fabry disease]
Ilkka Kantola, Maila Penttinen, Pirjo Nuutila, et al.
American Journal of Medical Genetics. Part A
|
January 27, 2010
Terminal 3p deletions in two families--correlation between molecular karyotype and phenotype
Pia Pohjola, Nicole de Leeuw, Maila Penttinen, et al.
American Journal of Medical Genetics. Part A
|
February 12, 2009
Genitopatellar syndrome in an adolescent female with severe osteoporosis and endocrine abnormalities
Maila Penttinen, Hannele Koillinen, Harri Niinikoski, et al.
Human Genetics
|
January 26, 2002
Dissecting the epidemiology of a trinucleotide repeat disease - example of FRDA in Finland
Vesa Juvonen, Satu-Maria Kulmala, Jaakko Ignatius, et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology
|
April 5, 2008
Neuropathic symptoms and findings in women with Fabry disease
Satu M Laaksonen, Matias Röyttä, Satu K Jääskeläinen, et al.
Journal of Inherited Metabolic Disease
|
August 15, 2006
Structural and functional changes in peripheral vasculature of Fabry patients
Riikka J Kalliokoski, Kari K Kalliokoski, Maila Penttinen, et al.
European Journal of Human Genetics : EJHG
|
September 21, 2004
Detection of the founder effect in Finnish CADASIL families
Kati Mykkänen, Marja-Liisa Savontaus, Vesa Juvonen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 13, 2007
Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions
Pia Vuorela, Sirpa Ala-Mello, Carola Saloranta, 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 C
Katja Stange, Tino Thieme, Karen Hertel, et al.
European Journal of Human Genetics : EJHG
|
May 26, 2006
Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene
Tuula Rinne, Emanuela Spadoni, Klaus W Kjaer, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 12) with videos related to
Sort By:
Page
of 2
Duodecim; Laaketieteellinen Aikakauskirja
|
May 23, 2012
[Fabry disease]
Ilkka Kantola, Maila Penttinen, Pirjo Nuutila, et al.
American Journal of Medical Genetics. Part A
|
January 27, 2010
Terminal 3p deletions in two families--correlation between molecular karyotype and phenotype
Pia Pohjola, Nicole de Leeuw, Maila Penttinen, et al.
American Journal of Medical Genetics. Part A
|
February 12, 2009
Genitopatellar syndrome in an adolescent female with severe osteoporosis and endocrine abnormalities
Maila Penttinen, Hannele Koillinen, Harri Niinikoski, et al.
Human Genetics
|
January 26, 2002
Dissecting the epidemiology of a trinucleotide repeat disease - example of FRDA in Finland
Vesa Juvonen, Satu-Maria Kulmala, Jaakko Ignatius, et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology
|
April 5, 2008
Neuropathic symptoms and findings in women with Fabry disease
Satu M Laaksonen, Matias Röyttä, Satu K Jääskeläinen, et al.
Journal of Inherited Metabolic Disease
|
August 15, 2006
Structural and functional changes in peripheral vasculature of Fabry patients
Riikka J Kalliokoski, Kari K Kalliokoski, Maila Penttinen, et al.
European Journal of Human Genetics : EJHG
|
September 21, 2004
Detection of the founder effect in Finnish CADASIL families
Kati Mykkänen, Marja-Liisa Savontaus, Vesa Juvonen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 13, 2007
Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions
Pia Vuorela, Sirpa Ala-Mello, Carola Saloranta, 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 C
Katja Stange, Tino Thieme, Karen Hertel, et al.
European Journal of Human Genetics : EJHG
|
May 26, 2006
Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene
Tuula Rinne, Emanuela Spadoni, Klaus W Kjaer, et al.
Page
of 2