Search Results - Antoinet C.J. Gijsbers
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A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first by Antoinet C.J. Gijsbers, Janet YK Lew, Cathy A.J. Bosch, Janneke Schuurs-Hoeijmakers, Arie van Haeringen, Nicolette S. den Hollander, Sarina G. Kant, Emilia K. Bijlsma, Martijn H. Breuning, Egbert Bakker, Claudia Ruivenkamp
Published 2009Artigo -
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Copy number variants in patients with short stature by Hermine A. van Duyvenvoorde, Julian C. Lui, Sarina G. Kant, Wilma Oostdijk, Antoinet C.J. Gijsbers, Mariëtte J.V. Hoffer, Marcel Karperien, M.J.E. Walenkamp, C. Noordam, Paul G. Voorhoeve, Verónica Mericq, Alberto M. Pereira, Hedi L Claahsen-van de Grinten, Sandy A. van Gool, Martijn H. Breuning, Monique Losekoot, Jeffrey Baron, Claudia Ruivenkamp, Jan M. Wit
Published 2013Artigo
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Biology
Copy-number variation
Gene
Gene duplication
Genetics
Genome
Genotype
Single-nucleotide polymorphism
Allele
Candidate gene
Chromosome
Endocrinology
Genetic association
Genome-wide association study
Genotyping
Karyotype
Loss of heterozygosity
SNP
SNP array
SNP genotyping
Short stature
Uniparental disomy