खोज परिणाम - Reynir Arngrı́msson
- प्रदर्शित 1 - 9 परिणाम 9
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MODY in Iceland is associated with mutations in HNF -1? and a novel mutation in NeuroD1 द्वारा S. Y. Kristinsson, Bente A. Talseth‐Palmer, Eirı́kur Steingrı́msson, A. V. Thorsson, T. Helgason, Á. B. Hreidarsson, Eirny Tholl Thorolfsdottir, Reynir Arngrı́msson
प्रकाशित 2001Artigo -
3
Evidence for a Familial Pregnancy-Induced Hypertension Locus in the eNOS-Gene Region द्वारा Reynir Arngrı́msson, Caroline Hayward, Sophie Nadaud, Ásdís Baldursdóttir, James J. Walker, Wang A. Liston, Ragnheiür I. Bjarnadóttir, D. J. H. Brock, Reynir Tómas Geirsson, James Connor, Florent Soubrier
प्रकाशित 1997Artigo -
4
A genome-wide scan for preeclampsia in the Netherlands द्वारा Augusta MA Lachmeijer, Reynir Arngrı́msson, Esther J. Bastiaans, Michael L. Frigge, Gerard Pals, Sigrún Sigurðardóttir, Hreinn Stefánsson, Bernhard Ø. Palsson, Dan L. Nicolae, Augustin Kong, Jan G. Aarnoudse, Jeff R Gulcher, Guustaaf A. Dekker, Leo P. ten Kate, Kāri Stefánsson
प्रकाशित 2001Artigo -
5
Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters द्वारा Gudny A. Arnadottir, Brynjar Ö. Jensson, S Marelsson, Gerald Sulem, Ásmundur Oddsson, Ragnar P. Kristjansson, Stefania Benónísdóttir, Sigurjón A. Guðjónsson, Gísli Másson, Guðmundur Á. Þórisson, Jona Saemundsdottir, Ólafur Þ. Magnússon, Aðalbjörg Jónasdóttir, Áslaug Jónasdóttir, Ásgeir Sigurðsson, Daníel F. Guðbjartsson, Unnur Þorsteinsdóttir, Reynir Arngrı́msson, Patrick Sulem, Kāri Stefánsson
प्रकाशित 2017Artigo -
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COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA द्वारा Brynjar Ö. Jensson, Sif Hansdóttir, Gudny A. Arnadottir, Gerald Sulem, Ragnar P. Kristjansson, Ásmundur Oddsson, Stefania Benónísdóttir, Hákon Jónsson, Agnar Helgason, Jona Saemundsdottir, Ólafur Þ. Magnússon, Gísli Másson, Guðmundur Á. Þórisson, Aðalbjörg Jónasdóttir, Áslaug Jónasdóttir, Ásgeir Sigurðsson, Ingileif Jónsdóttir, Vigdís Pétursdóttir, Jón R. Kristinsson, Daníel F. Guðbjartsson, Unnur Þorsteinsdóttir, Reynir Arngrı́msson, Patrick Sulem, Gunnar Guðmundsson, Hreinn Stefánsson
प्रकाशित 2017Artigo -
7
Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2 द्वारा Sigurdís Haraldsdóttir, Þórunn Rafnar, Wendy L. Frankel, Sylvia Einarsdottir, Ásgeir Sigurðsson, Heather Hampel, Pétur Snæbjörnsson, Gísli Másson, Daniel Weng, Reynir Arngrı́msson, Birte Kehr, Ahmet Yılmaz, Stefán Haraldsson, Patrick Sulem, Tryggvi Stefánsson, Peter G. Shields, Fridbjörn Sigurdsson, Tanios Bekaii‐Saab, Páll Helgi Möller, Margrét Steinarsdóttir, Kristín Alexíusdóttir, Megan P. Hitchins, Colin C. Pritchard, Albert de la Chapelle, Jón G. Jónasson, Richard M. Goldberg, Kāri Stefánsson
प्रकाशित 2017Artigo -
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Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document द्वारा Marieke Biegstraaten, Reynir Arngrı́msson, Frédéric Barbey, Lut Boks, Franco Cecchi, Patrick Deegan, Ulla Feldt‐Rasmussen, Tarekegn Geberhiwot, Dominique P. Germain, Christian J. Hendriksz, Derralynn Hughes, Ilkka Kantola, Nesrin Karabul, Christine Lavery, Gabor E. Linthorst, Atul Mehta, Erica van de Mheen, João Paulo Oliveira, Rossella Parini, Uma Ramaswami, Michael Rudnicki, Andreas L. Serra, Claudia Sommer, Gere Sunder‐Plassmann, Einar Svarstad, Annelies Sweeb, Wim Terryn, Anna Tylki‐Szymańska, Camilla Tøndel, Bojan Vujkovac, Frank Weidemann, Frits A. Wijburg, Peter Woolfson, Carla E. M. Hollak
प्रकाशित 2015Artigo -
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A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease द्वारा Gudny A. Arnadottir, Gudmundur L. Norddahl, Steinunn Guðmundsdóttir, Arna B. Agustsdottir, Snævar Sigurðsson, Brynjar Ö. Jensson, Kristbjörg Bjarnadóttir, Fannar Theódórs, Stefania Benónísdóttir, Erna V. Ivarsdottir, Ásmundur Oddsson, Ragnar P. Kristjansson, Gerald Sulem, Kristjan F. Alexandersson, Thorhildur Juliusdottir, Kjartan R. Guðmundsson, Jona Saemundsdottir, Aðalbjörg Jónasdóttir, Áslaug Jónasdóttir, Ásgeir Sigurðsson, Paolo Manzanillo, Sigurjón A. Guðjónsson, Guðmundur Á. Þórisson, Ólafur Þ. Magnússon, Gísli Másson, Kjartan B. Örvar, Hilma Hólm, Sigurður Björnsson, Reynir Arngrı́msson, Daníel F. Guðbjartsson, Unnur Þorsteinsdóttir, Ingileif Jónsdóttir, Ásgeir Haraldsson, Patrick Sulem, Kāri Stefánsson
प्रकाशित 2018Artigo
खोज साधन:
संबंधित विषय
Biology
Genetics
Gene
Medicine
Internal medicine
Mutation
Allele
Genetic linkage
Genotype
Haplotype
Pregnancy
Disease
Endocrinology
Environmental health
Exon
Germline mutation
Locus (genetics)
Loss function
Microsatellite
Missense mutation
Phenotype
Population
Preeclampsia
Alternative splicing
Apolipoprotein B
Body mass index
C-reactive protein
Cancer
Cholesterol
Chromosome