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24. Shwachman Diamond Syndrome with Arrhythmia as the First Manifestation a Case Report and Literature Review. Yu H; Zhao W; Ni Y; Li L Pharmgenomics Pers Med; 2022; 15():867-872. PubMed ID: 36254235 [TBL] [Abstract][Full Text] [Related]
25. Normative growth charts for Shwachman-Diamond syndrome from Italian cohort of 0-8 years old. Cipolli M; Tridello G; Micheletto A; Perobelli S; Pintani E; Cesaro S; Maserati E; Nicolis E; Danesino C; BMJ Open; 2019 Jan; 9(1):e022617. PubMed ID: 30782681 [TBL] [Abstract][Full Text] [Related]
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28. A Prospective Study of Hematologic Complications and Long-Term Survival of Italian Patients Affected by Shwachman-Diamond Syndrome. Cesaro S; Pegoraro A; Sainati L; Lucidi V; Montemitro E; Corti P; Ramenghi U; Nasi C; Menna G; Zecca M; Danesino C; Nicolis E; Pasquali F; Perobelli S; Tridello G; Farruggia P; Cipolli M J Pediatr; 2020 Apr; 219():196-201.e1. PubMed ID: 32037152 [TBL] [Abstract][Full Text] [Related]
30. Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Gene. Taha I; De Paoli F; Foroni S; Zucca S; Limongelli I; Cipolli M; Danesino C; Ramenghi U; Minelli A Genes (Basel); 2022 Jul; 13(8):. PubMed ID: 35893049 [TBL] [Abstract][Full Text] [Related]
31. Overcoming the Pitfalls of Next-Generation Sequencing-Based Molecular Diagnosis of Shwachman-Diamond Syndrome. Peng X; Dong X; Wang Y; Wu B; Wang H; Lu W; Xiao F; Yang L; Li G; Zhou W; Liu B; Lu Y J Mol Diagn; 2022 Dec; 24(12):1240-1253. PubMed ID: 36162759 [TBL] [Abstract][Full Text] [Related]
32. Shwachman-diamond syndrome: A case report. Tan H; Su D; Zhuo Z Medicine (Baltimore); 2021 Feb; 100(7):e24712. PubMed ID: 33607811 [TBL] [Abstract][Full Text] [Related]
33. Case Report: Heterozygous Germline Variant in Taha I; Foroni S; Valli R; Frattini A; Roccia P; Porta G; Zecca M; Bergami E; Cipolli M; Pasquali F; Danesino C; Scotti C; Minelli A Front Genet; 2022; 13():896749. PubMed ID: 36035165 [No Abstract] [Full Text] [Related]
34. Shwachman-Diamond syndrome: a complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (Jeune syndrome). Keogh SJ; McKee S; Smithson SF; Grier D; Steward CG BMC Pediatr; 2012 May; 12():48. PubMed ID: 22554078 [TBL] [Abstract][Full Text] [Related]
35. A case of Shwachman-Diamond syndrome confirmed with genetic analysis in a Korean child. Lee JH; Bae SH; Yu JJ; Lee R; Yun YM; Song EY J Korean Med Sci; 2008 Feb; 23(1):142-5. PubMed ID: 18303216 [TBL] [Abstract][Full Text] [Related]
36. The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type. Nishimura G; Nakashima E; Hirose Y; Cole T; Cox P; Cohn DH; Rimoin DL; Lachman RS; Miyamoto Y; Kerr B; Unger S; Ohashi H; Superti-Furga A; Ikegawa S J Med Genet; 2007 Apr; 44(4):e73. PubMed ID: 17400792 [TBL] [Abstract][Full Text] [Related]
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39. Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome. Woloszynek JR; Rothbaum RJ; Rawls AS; Minx PJ; Wilson RK; Mason PJ; Bessler M; Link DC Blood; 2004 Dec; 104(12):3588-90. PubMed ID: 15284109 [TBL] [Abstract][Full Text] [Related]
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