Neha Bhatia

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Publications (7)

• Patient‐Derived Variants Define Constraints for Ligand Binding at the <scp>PDZ</scp> Domain of <scp>CASK</scp>
  Journal of Neurochemistry 2025 DOI: 10.1111/jnc.70303
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• Preconception and Pregnancy Considerations for the Patient with Neurofibromatosis
  Current Obstetrics and Gynecology Reports 2025 DOI: 10.1007/s13669-025-00434-0
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• Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical Management
  Archives of Disease in Childhood 2021 DOI: 10.1136/archdischild-2020-319180
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• A novel Ser40Trp variant in IFITM5 in a family with osteogenesis imperfecta and review of the literature
  Clinical Dysmorphology 2019 DOI: 10.1097/mcd.0000000000000279
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• Further delineation of CDC45-related Meier-Gorlin syndrome with craniosynostosis and review of literature.
  European journal of medical genetics 2019 DOI: 10.1016/j.ejmg.2019.04.009
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• Chromosome 12q24.31 microdeletion and congenital heart disease: a case report and review of the literature
  Clinical Dysmorphology 2019 DOI: 10.1097/mcd.0000000000000245
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• Visuospatial skills and their Association with Math performance in Girls with Fragile X or Turner Syndrome
  Child Neuropsychology 2006 DOI: 10.1080/09297040500266951
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