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Kristiina Avela

Showing results (1-10 of 29) with videos related to

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European Journal of Medical Genetics|August 27, 2009
Megalocornea-urticaria pigmentosa syndrome--a new syndrome?Kristiina Avela, Reija Alen, Maria Huttunen, et al.
American Journal of Medical Genetics. Part A|February 22, 2011
Hajdu-Cheney syndrome with severe dural ectasiaKristiina Avela, Leena Valanne, Ilkka Helenius, et al.
European Journal of Medical Genetics|October 15, 2014
Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly in a Finnish woman: first confirmation of a duplication in RUNX2 as pathogenic variantKristiina Avela, Heljä Hirvinen, Mouna Ben Amor, et al.
American Journal of Medical Genetics. Part A|March 17, 2021
A novel MPLKIP-variant in three Finnish patients with non-photosensitive trichothiodystrophy type 4Sonja Strang-Karlsson, Maria von Willebrand, Kristiina Avela, et al.
European Journal of Medical Genetics|June 29, 2023
Jansen de Vries syndrome: Report of four new patients and review of the literatureAnna Tuiskula, Elisa Rahikkala, Andreina Kero, et al.
American Journal of Human Genetics|April 9, 2002
The TRIM37 gene encodes a peroxisomal RING-B-box-coiled-coil protein: classification of mulibrey nanism as a new peroxisomal disorderJukka Kallijärvi, Kristiina Avela, Marita Lipsanen-Nyman, et al.
American Journal of Medical Genetics. Part A|May 20, 2011
A microduplication on chromosome 17p13.1p13.3 including the PAFAH1B1 (LIS1) geneKristiina Avela, Katja Aktan-Collan, Nina Horelli-Kuitunen, et al.
Molecular Genetics & Genomic Medicine|February 26, 2020
18q12.3-q21.1 microdeletion detected in the prenatally alcohol-exposed dizygotic twin with discordant fetal alcohol syndrome phenotypeHanna Kahila, Heidi Marjonen, Pauliina Auvinen, et al.
Acta Ophthalmologica|May 16, 2019
The genetic aetiology of retinal degeneration in children in Finland - new founder mutations identifiedKristiina Avela, Riitta Salonen-Kajander, Arja Laitinen, et al.
Acta Ophthalmologica|October 26, 2017
A founder mutation in CERKL is a major cause of retinal dystrophy in FinlandKristiina Avela, Eeva-Marja Sankila, Sanna Seitsonen, et al.
Pageof 3

Showing results (1-10 of 29) with videos related to

Sort By:
Pageof 3
European Journal of Medical Genetics|August 27, 2009
Megalocornea-urticaria pigmentosa syndrome--a new syndrome?Kristiina Avela, Reija Alen, Maria Huttunen, et al.
American Journal of Medical Genetics. Part A|February 22, 2011
Hajdu-Cheney syndrome with severe dural ectasiaKristiina Avela, Leena Valanne, Ilkka Helenius, et al.
European Journal of Medical Genetics|October 15, 2014
Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly in a Finnish woman: first confirmation of a duplication in RUNX2 as pathogenic variantKristiina Avela, Heljä Hirvinen, Mouna Ben Amor, et al.
American Journal of Medical Genetics. Part A|March 17, 2021
A novel MPLKIP-variant in three Finnish patients with non-photosensitive trichothiodystrophy type 4Sonja Strang-Karlsson, Maria von Willebrand, Kristiina Avela, et al.
European Journal of Medical Genetics|June 29, 2023
Jansen de Vries syndrome: Report of four new patients and review of the literatureAnna Tuiskula, Elisa Rahikkala, Andreina Kero, et al.
American Journal of Human Genetics|April 9, 2002
The TRIM37 gene encodes a peroxisomal RING-B-box-coiled-coil protein: classification of mulibrey nanism as a new peroxisomal disorderJukka Kallijärvi, Kristiina Avela, Marita Lipsanen-Nyman, et al.
American Journal of Medical Genetics. Part A|May 20, 2011
A microduplication on chromosome 17p13.1p13.3 including the PAFAH1B1 (LIS1) geneKristiina Avela, Katja Aktan-Collan, Nina Horelli-Kuitunen, et al.
Molecular Genetics & Genomic Medicine|February 26, 2020
18q12.3-q21.1 microdeletion detected in the prenatally alcohol-exposed dizygotic twin with discordant fetal alcohol syndrome phenotypeHanna Kahila, Heidi Marjonen, Pauliina Auvinen, et al.
Acta Ophthalmologica|May 16, 2019
The genetic aetiology of retinal degeneration in children in Finland - new founder mutations identifiedKristiina Avela, Riitta Salonen-Kajander, Arja Laitinen, et al.
Acta Ophthalmologica|October 26, 2017
A founder mutation in CERKL is a major cause of retinal dystrophy in FinlandKristiina Avela, Eeva-Marja Sankila, Sanna Seitsonen, et al.
Pageof 3