תוצאות חיפוש - Egbert Bakker
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Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb) מאת Ivy Jennes, Elena Pedrini, Monia Zuntini, Marina Mordenti, Sahila Balkassmi, Carla Asteggiano, Brett Casey, Egbert Bakker, Luca Sangiorgi, Wim Wuyts
יצא לאור 2009Revisão -
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Diagnostic guidelines for high-resolution melting curve (HRM) analysis: An interlaboratory validation of<i>BRCA1</i>mutation scanning using the 96-well LightScanner™ מאת Nienke van der Stoep, Chantal D.M. van Paridon, Tom Janssens, Petra Křenková, A. Štambergová, Milan Maçek, Gert Matthijs, Egbert Bakker
יצא לאור 2009Artigo -
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An Extensive Analysis of Y-Chromosomal Microsatellite Haplotypes in Globally Dispersed Human Populations מאת Manfred Kayser, Michael Krawczak, Laurent Excoffier, Patrick Dieltjes, Daniel Corach, Vincente Pascali, Christian Gehrig, Luigi F. Bernini, Jørgen Jespersen, Egbert Bakker, Lutz Roewer, Peter de Knijff
יצא לאור 2001Artigo -
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Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion מאת Jeroen Knijnenburg, Arie van Haeringen, Kerstin Hansson, Arjan C. Lankester, Margot J. M. Smit, René D.M. Belfroid, Egbert Bakker, Carla Rosenberg, Hans J. Tanke, Károly Szuhai
יצא לאור 2007Artigo -
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Intronic variants in<i>BRCA1</i>and<i>BRCA2</i>that affect RNA splicing can be reliably selected by splice-site prediction programs מאת Maaike P.G. Vreeswijk, Jaco Kraan, Heleen M. van der Klift, Geraldine R. Vink, Cees J. Cornelisse, Juul Wijnen, Egbert Bakker, Christi J. van Asperen, Peter Devilee
יצא לאור 2008Artigo -
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Hereditary Nonpolyposis Colorectal Cancer Families Not Complying with the Amsterdam Criteria Show Extremely Low Frequency of Mismatch-Repair-Gene Mutations מאת Juul Wijnen, P. Meera Khan, Hans F. A. Vasen, Heleen van der Klift, Adri Mulder, Inge van Leeuwen‐Cornelisse, Egbert Bakker, Monique Losekoot, Pål Møller, Riccardo Fodde
יצא לאור 1997Artigo -
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Hereditary frontotemporal dementia is linked to chromosome 17q21—q22: A genetic and clinicopathological study of three dutch families מאת Peter Heutink, M Stevens, Patrizia Rizzu, Egbert Bakker, J. M. Kros, Aad Tibben, Martinus F. Niermeijer, Cornelia M. van Duijn, B. A. Oostra, John C. van Swieten
יצא לאור 1997Artigo
כלי חיפוש:
נושאים קשורים
Biology
Genetics
Gene
Medicine
Mutation
Allele
Internal medicine
Muscular dystrophy
Computational biology
Genotype
Phenotype
Exon
Pathology
Chromosome
Facioscapulohumeral muscular dystrophy
Population
Single-nucleotide polymorphism
Computer science
Duchenne muscular dystrophy
Endocrinology
Genome
Locus (genetics)
Pediatrics
Cancer
Disease
Environmental health
Genetic heterogeneity
Haplotype
Hereditary multiple exostoses
Hormone