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Authors
- Baumann, Britta
- Beales, Philip L
- Belitz, Britta
- Brown, Desmond A
- Eggenschwiler, Jonathan
- Emma, Francesco
- Erdogan, Fikret
- Garshasbi, Masoud
- Hennekam, Raoul C
- Kalscheuer, Vera
- Kelbova, Christina
- Klingenberg, Claus
- Kohl, Susanne
- Krawczynski, Maciej R
- Krawczynski, Marian
- Kuss, Andreas W
- Latos-Bielenska, Anna
- Ropers, Hans-Hilger
- Tzschach, Andreas
- Walczak-Sztulpa, Joanna
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Topics
- Adaptor Proteins, Signal Transducing
- Adult
- Base Sequence
- Child
- Child, Preschool
- Chromosome Deletion
- Chromosomes, Human, Pair 13
- Ciliary Motility Disorders
- Codon, Nonsense
- Color Vision Defects
- Craniofacial Abnormalities
- Cyclic Nucleotide-Gated Cation Channels
- Cytoskeletal Proteins
- DNA Mutational Analysis
- Female
- Humans
- Infant
- Male
- Mutation
- genetics
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