Found: 6
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Investigation of Targeted Genes and Identification of Novel Variants with Next Generation Sequencing Method in Hearing Loss.
- Published in:
- Journal of International Advanced Otology, 2024, v. 20, n. 4, p. 312, doi. 10.5152/iao.2024.22919
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- Article
Investigation the Relationship of Autism Spectrum Disorder and FOXP2, GRIN2B, KATNAL2, GABRA4 Genes.
- Published in:
- Archives of Neuropsychiatry / Nöropsikiyatri Arşivi, 2021, v. 58, n. 3, p. 171, doi. 10.29399/npa.27407
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- Article
Homozygous Paternally Inherited ASPA Variant in a Patient with Canavan Disease.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 4, p. 284, doi. 10.1159/000536386
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- Article
First Report of Jacobsen Syndrome with Dextrocardia Diagnosed with del(11)(q24q25).
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 3, p. 235, doi. 10.1159/000519149
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- Article
Functional analysis of MMR gene VUS from potential Lynch syndrome patients.
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- PLoS ONE, 2024, v. 19, n. 6, p. 1, doi. 10.1371/journal.pone.0304141
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- Article
Clinical exome sequencing reveals an important role for clinical diagnosis of intellectual disability with definition of seven novel variants.
- Published in:
- Neurology Asia, 2023, v. 28, n. 4, p. 1041, doi. 10.54029/2023rfz
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- Article