Author / Editor

• Antonarakis, Stylianos (55)
• Blouin, Jean-Louis (19)
• Neerman Arbez, Marguerite (19)
• Scott, Hamish Steele (13)
• Radhakrishna, U. (12)
• Rossier, Colette (12)
• Morris, Michael Andréw (11)
• Picard, Fabienne (10)
• Radhakrishna, Uppala (10)
• De Moerloose, Philippe (9)
• Bottani, Armand (8)
• Guipponi, Michel (8)
• Ratnamala, Uppala (6)
• Solanki, J. V. (6)
• Burkhard, Pierre (5)
• Deutsch, Samuel (5)
• Giacobino, Ariane (5)
• Nath, S. K. (5)
• Brice, Alexis (4)
• Chen, H. (4)
• Hutter, Pierre (4)
• Kudoh, J. (4)
• Lalioti, M. D. (4)
• Naveed, Mohammed (4)
• Patel, U. C. (4)
• Savioz, Armand (4)
• Soravia, Claudio (4)
• Wattenhofer, M. (4)
• Bartoloni, Lucia (3)
• Baulac, Michel (3)

Document type

• Article scientifique (127)
• Article professionnel (2)

Full text accessibility

• Restricted access (107)
• Free access (18)

Full text version

• Published version (61)
• Unknown (58)
• Accepted version (8)
• No fulltext (4)
• Submitted version (1)

Licence

• CC BY-NC (3)
• CC BY (2)

Subject

• Humans (128)
• Female (109)
• Male (106)
• Adult (49)
• Child (37)
• Molecular sequence data (29)
• Adolescent (27)
• Dna mutational analysis (26)
• Middle aged (24)
• Mutation (24)
• Chromosome mapping (21)
• Phenotype (21)
• Amino acid sequence (20)
• Genotype (19)
• Aged (17)
• Polymorphism, genetic (17)
• Exons (16)
• Haplotypes (16)
• Base sequence (15)
• Infant (15)
• Consanguinity (14)
• Genes, dominant (14)
• Linkage (genetics) (14)
• Lod score (14)
• Alleles (13)
• Child, preschool (13)
• Family health (13)
• Heterozygote (12)
• Mutation, missense (12)