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2022 | 2 |
2023 | 1 |
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Page 1
Novel Genetic Diagnoses in Septo-Optic Dysplasia.
Genes (Basel). 2022 Jun 28;13(7):1165. doi: 10.3390/genes13071165.
Genes (Basel). 2022.
PMID: 35885948
Free PMC article.
A Novel Variant in VPS13B Underlying Cohen Syndrome.
Hussain A, Acharya A, Bharadwaj T, Genomics UOWCFM, Leal SM, Khaliq A, Mir A, Schrauwen I.
Hussain A, et al. Among authors: genomics uowcfm.
Biomed Res Int. 2023 Apr 12;2023:9993801. doi: 10.1155/2023/9993801. eCollection 2023.
Biomed Res Int. 2023.
PMID: 37090188
Free PMC article.
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SCN1A Variants as the Underlying Cause of Genetic Epilepsy with Febrile Seizures Plus in Two Multi-Generational Colombian Families.
Cornejo-Sanchez DM, Acharya A, Bharadwaj T, Marin-Gomez L, Pereira-Gomez P, Nouel-Saied LM, University Of Washington Center For Mendelian Genomics, Nickerson DA, Bamshad MJ, Mefford HC, Schrauwen I, Carrizosa-Moog J, Cornejo-Ochoa W, Pineda-Trujillo N, Leal SM.
Cornejo-Sanchez DM, et al. Among authors: university of washington center for mendelian genomics.
Genes (Basel). 2022 Apr 25;13(5):754. doi: 10.3390/genes13050754.
Genes (Basel). 2022.
PMID: 35627139
Free PMC article.
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