Search Results

White matter hyperintensities on T2-weighted MRI images among DNA-verified older familial hypercholesterolemia patients

by Hyttinen, L., Autti, T., Rauma, S., Soljanlahti, S., Vuorio, A. F., Strandberg, T. E.
Published in Acta Radiologica (2009)

Characterisation of the salmon cystic fibrosis transmembrane conductance regulator protein for structural studies

by Naomi L. Pollock, Oscar Moran, Debora Baroni, Olga Zegarra-Moran, Robert C. Ford
Published in AIMS Molecular Science (2014)

CTLA4 promoter polymorphisms are associated with canine diabetes mellitus

by Short, A. D., Saleh, N. M., Catchpole, B., Kennedy, L. J., Barnes, A., Jones, C. A., Fretwell, N., Ollier, W. E R
Published in Tissue Antigens (2010)

Familial hypercholesterolaemia: a study protocol for identification and investigation of potential causes and markers of subclinical coronary artery disease in the Faroe Islands

by Borg, Sanna á, Nielsen, Michael Rene Skjelbo, Søgaard, Peter, Lundbye-Christensen, Søren, Jóanesarson, Jan, Zaremba, Tomas, Kollslíð, Rudi, Schmidt, Erik Berg, Joensen, Albert Marni, Bork, Christian Sørensen
Published in BMJ Open (2022)

A retrospective study of surgically excised phaeochromocytomas in Newfoundland, Canada

by Joanna Holland, Vikram Chandurkar
Published in Indian Journal of Endocrinology and Metabolism (2014)

An algorithm for finding optimal descent trees in genealogies conditional on the observed data

by Li, Qiong, 1981-
Published 2010

A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome

by Klemenzdottir, Elin Ola, Arnadottir, Gudny Anna, Jensson, Brynjar Orn, Jonasdottir, Adalbjorg, Katrinardottir, Hildigunnur, Fridriksdottir, Run, Jonasdottir, Aslaug, Sigurdsson, Asgeir, Gudjonsson, Sigurjon Axel, Jonsson, Jon Johannes, Stefansdottir, Vigdis, Danielsen, Ragnar, Palsdottir, Astridur, Jonsson, Hakon, Helgason, Agnar, Magnusson, Olafur Thor, Thorsteinsdottir, Unnur, Bjornsson, Hans Tomas, Stefansson, Kari, Sulem, Patrick
Published in European Journal of Human Genetics (2023)

A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome

by Klemenzdottir, Elin Ola, Arnadottir, Gudny A, Jensson, Brynjar Orn, Jonasdottir, Adalbjorg, Katrinardottir, Hildigunnur, Fridriksdottir, Run, Jonasdottir, Aslaug, Sigurdsson, Asgeir, Gudjonsson, Sigurjon Axel, Jónsson, Jón Jóhannes, Stefánsdóttir, Vigdís Fjóla, Danielsen, Ragnar, Palsdottir, Astridur, Jonsson, Hakon, Helgason, Agnar Sturla, Magnusson, Olafur Thor, Thorsteinsdottir, Unnur, Björnsson, Hans Tómas, Stefansson, Kari, Sulem, Patrick
Published in European Journal of Human Genetics (2023)

Familial hypercholesterolaemia:a study protocol for identification and investigation of potential causes and markers of subclinical coronary artery disease in the Faroe Islands

by Borg, Sanna Á, Nielsen, Michael Rene Skjelbo, Søgaard, Peter, Lundbye-Christensen, Søren, Jóanesarson, Jan, Zaremba, Tomas, Kollslíð, Rudi, Schmidt, Erik Berg, Joensen, Albert Marni, Bork, Christian Sørensen
Published in BMJ Open (2022)

Dieta pri hiperholesterolemiji

by Čerček Vilhar, Emanuela
Published 2017

■ Food poisoning

by Edwards Syndrome
Published 2009

Rapid screening for glucose-6-phosphate dehydrogenase deficiency and haemoglobin polymorphisms in Africa by a simple high-throughput SSOP-ELISA method

by Theander Thor G, Lemnge Martha M, Drakeley Chris J, Lusingu John, Vestergaard Lasse S, Enevold Anders, Bygbjerg Ib C, Alifrangis Michael
Published in Malaria Journal (2005)

Distribution of G6PD deficiency genotypes among Southeast Asian populations

by Indah S. Tantular, Fumihiko Kawamoto
Published in Tropical Medicine and Health (2021)

Clusters of rare disorders and congenital anomalies in South America

by Augusto César Cardoso-dos-Santos, Guillermo Reales, Lavinia Schuler-Faccini
Published in Revista Panamericana de Salud Pública (2023)

The gene for severe combined immunodeficiency disease in Athabascan-speaking Native Americans is located on chromosome 10p.

by Li, L, Drayna, D, Hu, D, Hayward, A, Gahagan, S, Pabst, H, Cowan, M J
Published 1998

Starting a DBS service for children:it’s not the latitude but the attitude — establishment of the paediatric DBS centre in Northern Finland

by Lahtinen, M. (Maija), Helander, H. (Heli), Vieira, P. (Päivi), Uusimaa, J. (Johanna), Katisko, J. (Jani)
Published 2022

Epidemiological, clinical, and genetic characteristics of paediatric genetic white matter disorders in Northern Finland

by Knuutinen, O. A. (Oula A.), Oikarainen, J. H. (Jaakko H.), Suo-Palosaari, M. H. (Maria H.), Kangas, S. M. (Salla M.), Rahikkala, E. J. (Elisa J.), Pokka, T. M. (Tytti M-L.), Moilanen, J. S. (Jukka S.), Hinttala, R. M. (Reetta M. L.), Vieira, P. M. (Päivi M.), Uusimaa, J. M. (Johanna M.)
Published 2021

Preimplantation genetic testing legislation and accessibility in the Nordic countries

by Hreinsson, Julius, Lundin, Kersti, Iwarsson, Erik, Hausken, Jon, Einarsson, Snorri, Grøndahl, Marie Louise, Hydén-Granskog, Christel, Ingerslev, Hans Jakob
Published in Acta Obstetricia et Gynecologica Scandinavica (2021)

Preimplantation genetic testing legislation and accessibility in the Nordic countries

by Hreinsson, Julius, Lundin, Kersti, Iwarsson, Erik, Hausken, Jon, Einarsson, Snorri, Grøndahl, Marie Louise, Hydén-Granskog, Christel, Ingerslev, Hans Jakob
Published in Acta Obstetricia et Gynecologica Scandinavica (2020)

Preimplantation genetic testing legislation and accessibility in the Nordic countries

by Hreinsson, Julius, Lundin, Kersti, Iwarsson, Erik, Hausken, Jon, Einarsson, Snorri, Grøndahl, Marie Louise, Hydén‐Granskog, Christel, Ingerslev, Hans Jakob
Published in Acta Obstetricia et Gynecologica Scandinavica (2020)