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8981.
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Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement. [electronic resource] by
- Laino, Luigi
- Bottillo, Irene
- Piedimonte, Caterina
- Bernardini, Laura
- Torres, Barbara
- Grammatico, Barbara
- Bargiacchi, Simone
- Mulargia, Claudia
- Calvani, Mauro
- Cardona, Francesco
- Castori, Marco
- Grammatico, Paola
Producer: 20161213
In:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society vol. 20
Availability: No items available.
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8989.
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A GLI3 variant leading to polydactyly in heterozygotes and Pallister-Hall-like syndrome in a homozygote. [electronic resource] by
- Kariminejad, Ariana
- Ghaderi-Sohi, Siavash
- Keshavarz, Elham
- Hashemi, Seyed Abolghasem
- Parsimehr, Elham
- Szenker-Ravi, Emmanuelle
- Khatoo, Muznah
- Faraji Zonooz, Mehrshid
- Reversade, Bruno
- Najmabadi, Hossein
- Hennekam, Raoul C
Producer: 20210604
In:
Clinical genetics vol. 97
Availability: No items available.
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8997.
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