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Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly. [electronic resource] by
- Marion, Vincent
- Stutzmann, Fanny
- Gérard, Marion
- De Melo, Charlie
- Schaefer, Elise
- Claussmann, Aurélie
- Hellé, Sophie
- Delague, Valérie
- Souied, Eric
- Barrey, Catherine
- Verloes, Alain
- Stoetzel, Corinne
- Dollfus, Hélène
Producer: 20121119
In:
Journal of medical genetics vol. 49
Availability: No items available.
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Recognition of the phenotype of thalidomide embryopathy in countries endemic for leprosy: new cases and review of the main dysmorphological findings. [electronic resource] by
- Vianna, Fernanda S L
- Schüler-Faccini, Lavínia
- Leite, Julio César L
- de Sousa, Silvia H C
- da Costa, Lea Márcia M
- Dias, Murilo F
- Morelo, Elaine F
- Doriqui, Maria Juliana R
- Maximino, Claudia M
- Sanseverino, Maria Teresa V
Producer: 20130911
In:
Clinical dysmorphology vol. 22
Availability: No items available.
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