Author / Editor

• Neerman Arbez, Marguerite (13)
• Antonarakis, Stylianos (9)
• De Moerloose, Philippe (9)
• Blouin, Jean-Louis (3)
• Schwitzgebel Luscher, Valérie (3)
• Yerly Ferrillo, Sabine (3)
• Bartoloni, Lucia (2)
• Beris, Photis (2)
• Boehlen, Françoise (2)
• Bottani, Armand (2)
• Deutsch, Samuel (2)
• Flandre, Philippe (2)
• Germanos-Haddad, Myrna (2)
• Guipponi, Michel (2)
• Iwaniec, Teresa (2)
• Radhakrishna, U. (2)
• Reymond, Alexandre (2)
• Rossier, Colette (2)
• Scott, Hamish Steele (2)
• Tirefort, Yordanka (2)
• Undas, Anetta (2)
• Vu, Dung (2)
• Zdziarska, Joanna (2)
• Ahmed, Z M. (1)
• Ahmed, Z. (1)
• Ahmed, Z. M. (1)
• Ahrens, Peter (1)
• Alberi, Stefano (1)
• Alson, Olivat Rakoto (1)
• Amiel, C (1)

Document type

• Article scientifique (42)

Full text accessibility

• Restricted access (35)
• Free access (5)

Full text version

• Published version (19)
• Unknown (19)
• Accepted version (3)
• No fulltext (2)

Subject

• Humans (42)
• Male (22)
• Female (21)
• Amino acid substitution (14)
• Molecular sequence data (12)
• Pedigree (12)
• Adult (11)
• Amino acid sequence (11)
• Dna mutational analysis (9)
• Heterozygote (9)
• Exons (8)
• Middle aged (7)
• Phenotype (7)
• Protein structure, tertiary (7)
• Animals (6)
• Homozygote (6)
• Adolescent (5)
• Alleles (5)
• Aged (4)
• Child (4)
• Child, preschool (4)
• Family health (4)
• Genotype (4)
• Infant (4)
• Mutation (4)
• Point mutation (4)
• Transfection (4)
• Chromosome mapping (3)
• Codon, nonsense (3)