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3. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome (vol 21, pg 1295, 2019)

5. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

7. Unusual GI pathology in a patient with Rett Svndrome (RS)

10. Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome

11. Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups