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4. Schimke immunoosseous dysplasia and management considerations for vascular risks. Beleford DT; Diab M; Qubty WF; Malloy MJ; Long RK; Shieh JT Am J Med Genet A; 2019 Jul; 179(7):1246-1252. PubMed ID: 31039288 [TBL] [Abstract][Full Text] [Related]
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6. A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2. Hara-Isono K; Matsubara K; Hamada R; Shimada S; Yamaguchi T; Wakui K; Miyazaki O; Muroya K; Kurosawa K; Fukami M; Ogata T; Kosho T; Kagami M J Hum Genet; 2021 Nov; 66(11):1121-1126. PubMed ID: 34031513 [TBL] [Abstract][Full Text] [Related]
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9. [SMARCAL1 gene analysis of 2 Chinese Schimke immuno-osseous dysplasia children]. Wang W; Song H; Wei M; Qiu Z; Wang C; Zhang Y; Li M; Yuan Y; Tang X Zhonghua Er Ke Za Zhi; 2015 Jan; 53(1):45-50. PubMed ID: 25748404 [TBL] [Abstract][Full Text] [Related]
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11. BK virus associated nephropathy and severe pneumonia in a kidney transplanted adolescent with Schimke immuneosseous- dysplasia. Düzova A; Gülhan B; Topaloğlu R; Özaltın F; Cengiz AB; Yetimakman AF; Doğru D; Güçer Ş; Beşbaş N Turk J Pediatr; 2019; 61(1):111-116. PubMed ID: 31559731 [TBL] [Abstract][Full Text] [Related]
12. Different Phenotypes of Schimke Immuno-Osseous Dysplasia (SIOD) in Two Sisters with the Same Mutation in the SMARCAL1 Gene. Castellano-Martinez A; Acuñas-Soto S; Varga-Martinez R; Rodriguez-Gonzalez M; Mora-Lopez F; Iriarte-Gahete M; Roldan-Cano V Endocr Metab Immune Disord Drug Targets; 2022; 22(8):888-894. PubMed ID: 35209826 [TBL] [Abstract][Full Text] [Related]
13. Medullary nephrocalcinosis in Schimke immuno-osseous dysplasia. Yavuz S; Bayazıt AK; Anarat A; Gonlusen G; Alsancak P Pediatr Int; 2015 Apr; 57(2):310-3. PubMed ID: 25868949 [TBL] [Abstract][Full Text] [Related]
14. Importance of neurologic and cutaneous signs in the diagnosis of Schimke immuno-osseous dysplasia. Polat Aİ; Yiş U; Ayanoğlu M; Hız AS; Güleryüz H; Öztürk Atasoy T; Boerkoel CF Turk J Pediatr; 2015; 57(5):509-13. PubMed ID: 27411420 [TBL] [Abstract][Full Text] [Related]
15. Schimke Immunoosseous Dysplasia associated with undifferentiated carcinoma and a novel SMARCAL1 mutation in a child. Carroll C; Badu-Nkansah A; Hunley T; Baradaran-Heravi A; Cortez D; Frangoul H Pediatr Blood Cancer; 2013 Sep; 60(9):E88-90. PubMed ID: 23630135 [TBL] [Abstract][Full Text] [Related]
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18. Expanding Phenotype of Schimke Immuno-Osseous Dysplasia: Congenital Anomalies of the Kidneys and of the Urinary Tract and Alteration of NK Cells. Bertulli C; Marzollo A; Doria M; Di Cesare S; La Scola C; Mencarelli F; Pasini A; Affinita MC; Vidal E; Magini P; Dimartino P; Masetti R; Greco L; Palomba P; Conti F; Pession A Int J Mol Sci; 2020 Nov; 21(22):. PubMed ID: 33203071 [TBL] [Abstract][Full Text] [Related]