Zobrazeno 1 - 3 of 3 pro vyhledávání: '"Jop Admiraal"'
1
Congenital amegakaryocytic thrombocytopenia presenting with a new thrombopoietin receptor (MPL) pathogenic variant
Autor: Inez M Vanholder, Ginette M Ecury‐Goossen, Jop Admiraal, Leendert Porcelijn, Rosalina ML van Spaendonk, Samantha C Gouw
Publikováno v: Journal of paediatrics and child health, 58(12), 2319-2321. Wiley-Blackwell
Journal of Paediatrics and Child Health, 58(12), 2319-2321. Wiley-Blackwell
Journal of Paediatrics and Child Health, 58(12), 2319-2321. WILEY
Vanholder, I M, Ecury-Goossen, G M, Admiraal, J, Porcelijn, L, van Spaendonk, R M L & Gouw, S C 2022, ' Congenital amegakaryocytic thrombocytopenia presenting with a new thrombopoietin receptor (MPL) pathogenic variant : An instructive neonatal case ', Journal of Paediatrics and Child Health, vol. 58, no. 12, pp. 2319-2321 . https://doi.org/10.1111/jpc.16168
Journal of paediatrics and child health
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c82c356aa631c3a667dacb5f491d444
https://hdl.handle.net/1887/3566398
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2
Homozygous DMRT2 variant associates with severe rib malformations in a newborn
Autor: Inge B. Mathijssen, Dimitra Micha, Roelof-Jan Oostra, Arjan Bouman, Rick R. van Rijn, Quinten Waisfisz, Jop Admiraal, Moniek van de Loo
Publikováno v: Bouman, A, Waisfisz, Q, Admiraal, J, van de Loo, M, van Rijn, RR, Micha, D, Oostra, R J & Mathijssen, IB 2018, ' Homozygous DMRT2 variant associates with severe rib malformations in a newborn ', American Journal of Medical Genetics Part A, vol. 176, no. 5, pp. 1216-1221 . https://doi.org/10.1002/ajmg.a.38668
American Journal of Medical Genetics Part A, 176(5), 1216-1221. Wiley-Liss Inc.
American journal of medical genetics. Part A, 176(5), 1216-1221. Wiley-Liss Inc.
Spondylocostal dysostosis (SCD) is a rare disorder characterized by vertebral segmentation defects and malformations of the ribs. SCD patients have some degree of (kypho)scoliosis, short stature and suffer from respiratory impairment due to the reduc
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b592a480cc804b18339d60c78ad3761a
https://doi.org/10.1002/ajmg.a.38668
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Plný text Recenzováno Digitální knihovna AV ČR
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