6 results on '"McEvoy-Venneri, Jennifer"'
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2. Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition
3. Autism risk in offspring can be assessed through quantification of male sperm mosaicism
4. Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families
5. Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)
6. Biallelic variants in KIF14 cause intellectual disability with microcephaly
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