Tetrasomy 18p: Report of the molecular and clinical findings of 43 individualsHow to cite this article: Sebold C, Roeder E, Zimmerman M, Soileau B, Heard P, Carter E, Schatz M, White WA, Perry B, Reinker K, ODonnell L, Lancaster J, Li J, Hasi M, Hill A, Pankratz L, Hale DE, Cody JD. 2010. Tetrasomy 18p: Report of the molecular and clinical findings of 43 individuals. Am J Med Genet Part A 152A:2164–2172.

Autor: Sebold, Courtney, Roeder, Elizabeth, Zimmerman, Marsha, Soileau, Bridgette, Heard, Patricia, Carter, Erika, Schatz, Martha, White, W. Abraham, Perry, Brian, Reinker, Kent, ODonnell, Louise, Lancaster, Jack, Li, John, Hasi, Minire, Hill, Annice, Pankratz, Lauren, Hale, Daniel E., Cody, Jannine D.

Publikováno v: American Journal of Medical Genetics. Part A; September 2010, Vol. 152 Issue: 9 p2164-2172, 9p

Further defining the molecular spectrum and long-term follow-up of 17 patients with Dyggve-Melchior-Clausen and Smith-McCort dysplasia type 2.

Autor: Akalın A; Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Department of Pediatric Genetics, Diyarbakir Children's Hospital, Diyarbakır, Turkey., Ayaz E; Department of Pediatric Radiology, Diyarbakir Children's Hospital, Diyarbakır, Turkey., Soğukpınar M; Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey., Avcı-Durmuşalioğlu E; Division of Pediatric Genetics, Department of Pediatrics, School of Medicine, Ege University, Izmir, Turkey., Ürel-Demir G; Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey., Yıldız AE; Department of Radiology, Hacettepe University Faculty of Medicine, Ankara, Turkey., Atik T; Division of Pediatric Genetics, Department of Pediatrics, School of Medicine, Ege University, Izmir, Turkey., Elcioglu NH; Department of Pediatric Genetics, Marmara University Faculty of Medicine, Istanbul, Turkey.; Department of Pediatric Genetics, Eastern Mediterranean University Medical School, Famagusta, Turkey., Eda Utine G; Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey., Şimşek-Kiper PÖ; Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Oct; Vol. 194 (10), pp. e63785. Date of Electronic Publication: 2024 Jun 11.

Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis

Autor: Gong, Y., Krakow, D., Marcelino, J., Wilkin, D., Chitayat, D., Babul-Hirji, R., Hudgins, L., Cremers, C.W.R.J., Cremers, F.P.M., Brunner, H.G., Reinker, K., Rimoin, D.L., Cohn, D.H., Goodman, F.R., Reardon, W., Patton, M.A., Francomano, C.A., Warman, M.L.

Publikováno v: Nature Genetics, 21, 3, pp. 302-304
Nature Genetics, 21, 302-304

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Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::42e10ab3001c98a5a70e00a0ad910412
https://hdl.handle.net/2066/186060

Early diagnosis and treatment of hinge abduction in Legg-Perthes disease.

Autor: Reinker, Kent A., Reinker, K A

Publikováno v: Journal of Pediatric Orthopaedics; Jan/Feb1996, Vol. 16 Issue 1, p3-9, 7p

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