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Maarit Peippo

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American Journal of Medical Genetics. Part A|September 21, 2004
The first Finnish patient with the Floating-Harbor syndrome: the follow-up of eight yearsSirpa Ala-Mello, Maarit Peippo
American Journal of Medical Genetics. Part A|October 20, 2009
Weismann-Netter syndrome and mental retardation: a new patient and review of the literatureMaarit Peippo, Leena Valanne, Marja Perhomaa, et al.
Genetic Testing and Molecular Biomarkers|August 29, 2012
Translation of a research-based genetic test on a rare syndrome into clinical service testing, with sotos syndrome as an examplePia Pohjola, Maarit Peippo, Maila T Penttinen, et al.
American Journal of Medical Genetics. Part A|September 17, 2008
Further evidence for a relationship between the 5p15 chromosome region and the oculoauriculovertebral anomalySirpa Ala-Mello, Linda Siggberg, Sakari Knuutila, et al.
Orphanet Journal of Rare Diseases|June 23, 2011
9q22 Deletion--first familial caseLinda Siggberg, Maarit Peippo, Marjatta Sipponen, et al.
American Journal of Medical Genetics. Part A|September 14, 2007
PAK3 related mental disability: further characterization of the phenotypeMaarit Peippo, Anne M Koivisto, Teppo Särkämö, et al.
Orphanet Journal of Rare Diseases|April 12, 2014
X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypesAnju K Philips, Auli Sirén, Kristiina Avela, et al.
American Journal of Human Genetics|June 21, 2008
Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11Christian R Marshall, Edwin J Young, Ariel M Pani, et al.
Nature Genetics|June 28, 2011
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndromeAlexander Hoischen, Bregje W M van Bon, Benjamín Rodríguez-Santiago, et al.
American Journal of Human Genetics|February 7, 2008
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardationGuy Froyen, Mark Corbett, Joke Vandewalle, et al.
Pageof 2

Showing results (1-10 of 11) with videos related to

Sort By:
Pageof 2
American Journal of Medical Genetics. Part A|September 21, 2004
The first Finnish patient with the Floating-Harbor syndrome: the follow-up of eight yearsSirpa Ala-Mello, Maarit Peippo
American Journal of Medical Genetics. Part A|October 20, 2009
Weismann-Netter syndrome and mental retardation: a new patient and review of the literatureMaarit Peippo, Leena Valanne, Marja Perhomaa, et al.
Genetic Testing and Molecular Biomarkers|August 29, 2012
Translation of a research-based genetic test on a rare syndrome into clinical service testing, with sotos syndrome as an examplePia Pohjola, Maarit Peippo, Maila T Penttinen, et al.
American Journal of Medical Genetics. Part A|September 17, 2008
Further evidence for a relationship between the 5p15 chromosome region and the oculoauriculovertebral anomalySirpa Ala-Mello, Linda Siggberg, Sakari Knuutila, et al.
Orphanet Journal of Rare Diseases|June 23, 2011
9q22 Deletion--first familial caseLinda Siggberg, Maarit Peippo, Marjatta Sipponen, et al.
American Journal of Medical Genetics. Part A|September 14, 2007
PAK3 related mental disability: further characterization of the phenotypeMaarit Peippo, Anne M Koivisto, Teppo Särkämö, et al.
Orphanet Journal of Rare Diseases|April 12, 2014
X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypesAnju K Philips, Auli Sirén, Kristiina Avela, et al.
American Journal of Human Genetics|June 21, 2008
Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11Christian R Marshall, Edwin J Young, Ariel M Pani, et al.
Nature Genetics|June 28, 2011
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndromeAlexander Hoischen, Bregje W M van Bon, Benjamín Rodríguez-Santiago, et al.
American Journal of Human Genetics|February 7, 2008
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardationGuy Froyen, Mark Corbett, Joke Vandewalle, et al.
Pageof 2