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Medicine & Life Sciences

Mutation
Phenotype
Genes
CHARGE Syndrome
Intellectual Disability
Missense Mutation
Exome
Exons
Newborn Infant
Rubinstein-Taybi Syndrome
Haploinsufficiency
Neurofibromatosis 1
Multiple Abnormalities
Microcephaly
Silver-Russell Syndrome
Japan
Megalencephaly
Alleles
Comparative Genomic Hybridization
Cleidocranial Dysplasia
Cleft Palate
High Pressure Liquid Chromatography
Induced Pluripotent Stem Cells
Marfan Syndrome
Chromosome Deletion
Craniosynostoses
Noonan Syndrome
Siblings
Pregnancy
Mothers
DNA-Binding Proteins
Pulmonary Hypertension
Coloboma
Periventricular Nodular Heterotopia
Hearing Loss
DiGeorge Syndrome
Fathers
Jacobsen Distal 11q Deletion Syndrome
Germ-Line Mutation
Genetic Testing
Thrombocytopenia
Hirschsprung Disease
Preschool Children
Rare Diseases
Cleft Lip
Genome
Nonsense Codon
Frameshift Mutation
Skin
Neurofibroma
Fetal Growth Retardation
Proteins
Multiplex Polymerase Chain Reaction
DNA Mutational Analysis
Gene Deletion
Medical Genetics
Polydactyly
Polymerase Chain Reaction
Craniofacial Abnormalities
Loeys-Dietz Syndrome
CREB-Binding Protein
Nose
Genotype
Chromosomes
Growth
Focal Dermal Hypoplasia
Micrognathism