Research output per year
Research output per year
Search results
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2024
The utility of gene sequencing in identifying an underlying genetic disorder in prenatally suspected lower urinary tract obstruction
Brar, B. K., Blakemore, K., Hertenstein, C., Miller, J. L., Miller, K. A., Shamseldin, H., Maddirevula, S., Hays, T., Lianoglou, B., Dukhovny, S., Baker, L. A., Sparks, T. N., Wapner, R., Alkuraya, F. S., Norton, M. E. & Jelin, A. C., Feb 2024, In: Prenatal Diagnosis. 44, 2, p. 196-204 9 p.Research output: Contribution to journal › Article › peer-review
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2023
Follow Your Nose: Repeat Nasal Bone Evaluation in First-Trimester Screening for Down Syndrome
Miller, K. A., Sagaser, K. G., Hertenstein, C. B., Blakemore, K. J., Forster, K. R., Lawson, C. S. & Jelin, A. C., Aug 2023, In: Journal of Ultrasound in Medicine. 42, 8, p. 1709-1716 8 p.Research output: Contribution to journal › Article › peer-review
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Not just a carrier: Clinical presentation and management of patients with heterozygous disease-causing alkaline phosphatase (ALPL) variants identified through expanded carrier screening
Beck, N. M., Sagaser, K. G., Lawson, C. S., Hertenstein, C., Jachens, A., Forster, K. R., Miller, K. A., Jelin, A. C., Blakemore, K. J. & Hoover-Fong, J., Jan 2023, In: Molecular Genetics and Genomic Medicine. 11, 1, e2056.Research output: Contribution to journal › Article › peer-review
Open Access -
2022
Prenatal phenotyping of fetal tubulinopathies: A multicenter retrospective case series
Fetal Sequencing Consortium, Dec 2022, In: Prenatal Diagnosis. 42, 13, p. 1686-1693 8 p.Research output: Contribution to journal › Article › peer-review
Open Access