Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Raible, S. E."'
Autor:
Salzano, E., Raible, S. E., Kaur, M., Wilkens, A., SPERTI, GIACOMO, Tilton, R. K., Bettini, L. R., Rocca, A., Cocchi, G., Selicorni, A., Conlin, L. K., McEldrew, D., Gupta, R., Thakur, S., Izumi, K., Krantz, I. D.
Pallister-Killian syndrome (PKS) is a tissue limited mosaic disorder, characterized by variable degrees of neurodevelopmental delay and intellectual disability, typical craniofacial findings, skin pigmentation anomalies and multiple congenital malfor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::edbb6d1c3c0fa35aa393525d81e189dc
http://hdl.handle.net/10281/254324
http://hdl.handle.net/10281/254324
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Salzano E; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Raible SE; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Kaur M; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Wilkens A; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Sperti G; Neonatology Unit, St. Orsola-Malpighi Polyclinic, Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy., Tilton RK; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Bettini LR; Dipartimento di Scienze Della Salute, San Paolo Hospital Medical School, Università degli Studi di Milano, Milan, Italy., Rocca A; Neonatology Unit, St. Orsola-Malpighi Polyclinic, Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy., Cocchi G; Neonatology Unit, St. Orsola-Malpighi Polyclinic, Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy., Selicorni A; UOC Pediatria, ASST Lariana, Como, Italy., Conlin LK; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Pathology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., McEldrew D; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Gupta R; Department of Fetal Medicine, Maharaja Agrasen Hospital, Delhi & Sonepat Genetic and Fetal Medicine Centre, Sonepat, Haryana., Thakur S; Department of Genetic & Fetal Medicine, Fortis Hospital, Delhi-NCR & Apollo Hospital, Delhi, India., Izumi K; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Krantz ID; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2018 Dec; Vol. 176 (12), pp. 2575-2586. Date of Electronic Publication: 2018 Oct 05.
