खोज परिणाम - Cathrine Jespersgaard
- प्रदर्शित 1 - 4 परिणाम 4
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1
A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1 द्वारा Karen Grønskov, Cathrine Jespersgaard, Gitte Hoffmann Bruun, Pernille Harris, Karen Brøndum‐Nielsen, Brage Storstein Andresen, Thomas Rosenberg
प्रकाशित 2019Artigo -
2
Genome-wide peripheral blood leukocyte DNA methylation microarrays identified a single association with inflammatory bowel diseases द्वारा R. Alan Harris, Dorottya Nagy‐Szakal, Natalia Pedersen, Antone R. Opekun, Jiří Bronský, Pia Munkholm, Cathrine Jespersgaard, PaalSkytt Andersen, Béla Melegh, George D. Ferry, Tine Jess, Richárd Kellermayer
प्रकाशित 2012Artigo -
3
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy द्वारा Cathrine Jespersgaard, Mingyan Fang, Mette Bertelsen, Xiao Dang, Hanne Jensen, Yulan Chen, Niels Bech, Lanlan Dai, Thomas Rosenberg, Jianguo Zhang, Lisbeth Birk Møller, Zeynep Tümer, Karen Brøndum‐Nielsen, Karen Grønskov
प्रकाशित 2019Artigo -
4
Phenotypes and genotypes in individuals with <i>SMC1A</i> variants द्वारा Sylvia Huisman, Paul A. Mulder, E. Redeker, Ingrid Bader, Anne‐Marie Bisgaard, Alice S. Brooks, Anna Cereda, Constanza Cinca, Dinah Clark, Valérie Cormier‐Daire, Matthew A. Deardorff, Karin E. M. Diderich, Mariet Elting, Anthonie van Essen, David Fitzpatrick, Cristina Gervasini, Gabriele Gillessen‐Kaesbach, Katta M. Girisha, Yvonne Hilhorst‐Hofstee, Saskia Hopman, Denise Horn, Mala Isrie, Sandra Jansen, Cathrine Jespersgaard, Frank J. Kaiser, Maninder Kaur, Tjitske Kleefstra, Ian D. Krantz, Phillis Lakeman, Annemiek Landlust, Davor Lessel, Caroline Michot, Joanna Moss, Sarah E. Noon, Chris Oliver, Ilaria Parenti, Juan Pié, Feliciano J. Ramos, Claudine Rieubland, Silvia Russo, Angelo Selicorni, Zeynep Tümer, Rieneke Vorstenbosch, Tara Wenger, Ingrid van Balkom, Sigrid Piening, Jolanta Wierzba, Raoul C. M. Hennekam
प्रकाशित 2017Artigo
खोज साधन:
संबंधित विषय
Biology
Gene
Genetics
Medicine
Albinism
Allele
Bioinformatics
Bisulfite sequencing
Chromosome
Clinical significance
Cohesin
Computational biology
Copy-number variation
Cornelia de Lange Syndrome
CpG site
DNA
DNA methylation
DNA microarray
DNA sequencing
Disease
Epigenetics
Exome sequencing
Exon
Gene expression
Genetic analysis
Genetic testing
Genetic variants
Genome
Genotype
Haplotype