Eléments de l'association
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List of bibliographic references
Number of relevant bibliographic references: 3.| Ident. | Authors (with country if any) | Title |
|---|---|---|
| 004552 | Bassam R. Ali [Émirats arabes unis] ; Jennifer L. Silhavy [États-Unis] ; Nadia A. Akawi [Émirats arabes unis] ; Joseph G. Gleeson [États-Unis] ; Lihadh Al-Gazali [Émirats arabes unis] | A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance |
| 007591 | Maha Zaki [Égypte] ; Marwa Shehab [Égypte] ; Alice Abd El-Aleem [Égypte] ; Ghada Abdel-Salam [Égypte] ; Hajira B. Koeller [États-Unis] ; Yesim Ilkin [États-Unis] ; M. Elizabeth Ross [États-Unis] ; William B. Dobyns [États-Unis] ; Joseph G. Gleeson [États-Unis] | Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation |
| 009E24 | Joseph G. Gleeson [États-Unis] | Neuronal migration disorders |
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