| human | Q5 |
| P106 | occupation | researcher | Q1650915 |
| Q21144861 | De novo mutations in moderate or severe intellectual disability |
| Q29144196 | Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability |
| Q47581915 | High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies |
| Q36339758 | Joubert Syndrome in French Canadians and Identification of Mutations in CEP104 |
| Q41167834 | Loss-of-function de novo mutations play an important role in severe human neural tube defects |
| Q34031174 | Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population |
| Q46903281 | Mutations in TMEM231 cause Joubert syndrome in French Canadians |
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