María Palomares-Bralo
0000-0002-2727-7654
3 papers found
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Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review
Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders
Exome sequencing in Crisponi/cold‐induced sweating syndrome–like individuals reveals unpredicted alternative diagnoses
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