Service De Mdecine Gnomique Des Maladies Rares 1

1. BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients
2. Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations
3. Steroid-Resistant Nephrotic Syndrome due to NPHS2 Variants Is Not Associated With Posttransplant Recurrence
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