Results 1 -
10
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25
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N syndrome
- ... a therapeutic target of imatinib in idiopathic hypereosinophilic syndrome. N Engl J Med. 2003 Mar 27;348(13): ...
- ... 04.009. Citation on PubMed Tuysuz B, Gunes N, Alkaya DU. Trichorhinophalangeal Syndrome. 2017 Apr 20 [updated 2024 Mar 21]. In: ...
- ... D, Sullivan K, Canning D, Zavod W, Quinn N, Rome J. Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion. Am J ... L, Firth HV, Harrison K, MacKenzie J, Gallo N, Morrow BE, Shaffer LG, Babcock ... of 22q11.2: a highly variable syndrome. Am J Hum Genet. 2005 May;76(5): ...
- ... Citation on PubMed Butler MG, Bittel DC, Kibiryeva N, Talebizadeh Z, Thompson T. Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and ...
- ... Mozelle-Nivoix M, Sabouraud P, Golovkine N, Bednarek N, Gaillard D, Doco-Fenzy M. The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, ...
- ... 30408. Citation on PubMed Merla G, Brunetti-Pierri N, Micale L, Fusco C. Copy number variants at Williams-Beuren syndrome 7q11.23 region. Hum Genet. 2010 Jul;128( ...
- ... Central Millington K, Hudnall SD, Northup J, Panova N, Velagaleti G. Role of chromosome 1 pericentric heterochromatin (1q) in pathogenesis of myelodysplastic syndromes: report of 2 new cases. Exp Mol Pathol. ...
- ... Free article on PubMed Central Tartaglia N, Ayari N, Howell S, D'Epagnier C, Zeitler P. 48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome. Acta Paediatr. ...
- ... Yntema HG, van Hagen JM, Nieuwint AW, Morrison N, Keijzers-Vloet ST, Hoischen A, Brunner HG, Tolmie J, Kleefstra T. Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34. ...
- ... HH, Shaffer LG, Kutsche K, Layman LC, Tommerup N, Kalscheuer VM, Shi Y, Morton CC, Kim CH, Gusella JF. Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial ...