Role of CAMK2D in neurodevelopment and associated conditions
Source
The American journal of human genetics - ISSN 0002-9297-111:2 (2024) p. 1-20
RUNX2-related metaphyseal dysplasia with maxillary hypoplasia : a rare skeletal disorder resembling SFRP4-related Pyle disease
Source
Clinical genetics - ISSN 0009-9163-105:4 (2024) p. 434-439
Negative molecular diagnostics in non-syndromic hearing loss : what next?
Source
Genes - ISSN 2073-4425-14:1 (2023) p. 1-15
Targeted next-generation sequencing in children with bilateral sensorineural hearing loss : diagnostic yield and predictors of a genetic cause
Source
Otology and neurotology - ISSN 1531-7129-44:4 (2023) p. 360-366
varAmpliCNV : analyzing variance of amplicons to detect CNVs in targeted NGS data
Source
Bioinformatics - ISSN 1367-4803-31:1 (2023) p. 1-8