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3. Broadening the phenotypic spectrum of EVEN‐PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype. Issue 9 (2nd July 2022)

5. Delineation of the clinical and radiological features of Stuve–Wiedemann syndrome childhood survivors, four new cases and review of the literature. Issue 3 (11th December 2020)

7. MRX93 syndrome (BRWD3 gene): five new patients with novel mutations. Issue 6 (29th April 2019)

8. Pathogenic variants in KPTN, a rare cause of macrocephaly and intellectual disability. Issue 10 (18th August 2020)