Krakow, Deborah

Osteogenesis imperfecta

Marini, J. C., Forlino, A., Bächinger, H. P., Bishop, N. J., Byers, P. H., Paepe, A. D., Fassier, F., Fratzl-Zelman, N., Kozloff, K. M., Krakow, D., et al. (2017) · Nature Reviews Disease Primers

Connective tissue disorders researchDermatological and Skeletal Disorders

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Nosology and classification of genetic skeletal disorders: 2019 revision

Mortier, G. R., Cohn, D. H., Cormier‐Daire, V., Hall, C., Krakow, D., Mundlos, S., Nishimura, G., Robertson, S., Sangiorgi, L., Savarirayan, R., et al. (2019) · American Journal of Medical Genetics Part A

Connective tissue disorders researchGenomics and Rare Diseases

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Human Ehlers-Danlos Syndrome Type VII C and Bovine Dermatosparaxis Are Caused by Mutations in the Procollagen I N-Proteinase Gene

Colige, A., Sieron, A. L., Li, S.-W., Schwarze, U., Petty, E., Wertelecki, W., Wilcox, W., Krakow, D., Cohn, D. H., Reardon, W., et al. (1999) · The American Journal of Human Genetics

Connective tissue disorders researchProtease and Inhibitor Mechanisms

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Regulation of ciliary function by fibroblast growth factor signaling identifies FGFR3-related disorders achondroplasia and thanatophoric dysplasia as ciliopathies

Kunova Bosakova, M., Varecha, M., Hampl, M., Duran, I., Nita, A., Buchtova, M., Dosedelova, H., Machat, R., Xie, Y., Ni, Z., et al. (2018) · Human Molecular Genetics

Genetic and Kidney Cyst DiseasesConnective tissue disorders research

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Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Kobren, S. N., Baldridge, D., Velinder, M., Krier, J. B., LeBlanc, K., Esteves, C., Pusey, B. N., Züchner, S., Blue, E., Lee, H., et al. (2021) · Genetics in Medicine

Genomics and Rare DiseasesGenomics and Phylogenetic Studies

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First-Trimester Abdominal Circumference (Versus Crown Rump Length) Improves Precision in Inter- and Intraobserver Variability

Afshar, Y., Gutkin, R., Krakow, D., Cuckle, H., Silverman, N. S., & Platt, L. D. (2019) · Journal of Ultrasound in Medicine

Prenatal Screening and DiagnosticsReliability and Agreement in Measurement

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