檢索結果 - Birgit Hellmann-Mersch
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A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients 由 Hartmut Engels, Eva Wohlleber, Alexander M. Zink, Juliane Hoyer, Kerstin U. Ludwig, Felix F. Brockschmidt, Dagmar Wieczorek, Ute Moog, Birgit Hellmann-Mersch, Ruthild G. Weber, Lionel Willatt, Martina Kreiß‐Nachtsheim, Helen V. Firth, Anita Rauch
出版 2009Artigo
相關主題
Alternative medicine
Bioinformatics
Biology
Candidate gene
Chromosome
Comparative genomic hybridization
Epilepsy
Fluorescence in situ hybridization
Gene
Genetics
Genotype
Haploinsufficiency
Hypotonia
Medicine
Microdeletion syndrome
Molecular cytogenetics
Neuroscience
Pathology
Phenotype
Psychomotor retardation
SNP array
Single-nucleotide polymorphism