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Results 1 - 10 of 34 for nbs
  1. Nicolaides-Baraitser syndrome 
    ... no history of the disorder in their family. NBS NCBRS Genetic Testing Registry: Nicolaides-Baraitser syndrome Nicolaides- ...
    https://medlineplus.gov/.../condition/nicolaides-baraitser-syndrome - Genetics
  2. Neuroblastoma 
    ... mutation is probably needed to cause the condition. NB Genetic Testing Registry: Neuroblastoma, susceptibility to, 2 Genetic ...
    https://medlineplus.gov/genetics/condition/neuroblastoma - Genetics
  3. Alagille syndrome 
    ... 12.004. Citation on PubMed Kamath BM, Spinner NB, Rosenblum ND. Renal involvement and the role of ... PA, Pai A, Krantz ID, Piccoli DA, Spinner NB. NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder ...
    https://medlineplus.gov/genetics/condition/alagille-syndrome - Genetics
  4. Centronuclear myopathy 
    ... J, Faure J, Weis J, Mandel JL, Romero NB, Laporte J. Adult-onset autosomal dominant centronuclear myopathy ... Epub 2007 Aug 5. Citation on PubMed Romero NB. Centronuclear myopathies: a widening concept. Neuromuscul Disord. 2010 ...
    https://medlineplus.gov/genetics/condition/centronuclear-myopathy - Genetics
  5. Nijmegen breakage syndrome 
    ... Rare Disorders (NORD) ClinicalTrials.gov NIJMEGEN BREAKAGE SYNDROME; NBS PubMed Dembowska-Baginska B, Perek D, Brozyna A, ... lymphoma (NHL) in children with Nijmegen Breakage syndrome (NBS). Pediatr Blood Cancer. 2009 Feb;52(2):186- ...
    https://medlineplus.gov/.../condition/nijmegen-breakage-syndrome - Genetics
  6. Nemaline myopathy 
    ... KR, Clement S, Barois A, Muntoni F, Romero NB, Laing NG. Nemaline myopathy caused by absence of ... PubMed or Free article on PubMed Central Romero NB, Sandaradura SA, Clarke NF. Recent advances in nemaline ...
    https://medlineplus.gov/genetics/condition/nemaline-myopathy - Genetics
  7. X-linked myotubular myopathy 
    ... MR, Lagier-Tourenne C, Buj-Bello A, Romero NB, Mandel JL. Characterisation of mutations in 77 patients ... V, Scheidecker S, Miguet M, Laquerriere A, Romero NB, Stojkovic T, Abath Neto O, Mercier S, Voermans ...
    https://medlineplus.gov/.../condition/x-linked-myotubular-myopathy - Genetics
  8. Multiminicore disease 
    ... PubMed Ferreiro A, Estournet B, Chateau D, Romero NB, Laroche C, Odent S, Toutain A, Cabello A, ... H, Straub V, Villanova M, Leroy JP, Romero NB, Martin JJ, Muntoni F, Voit T, Estournet B, ...
    https://medlineplus.gov/genetics/condition/multiminicore-disease - Genetics
  9. Malignant hyperthermia 
    ... Yum S, Medne L, Quijano-Roy S, Romero NB, Faure J, Feng L, Bastaki L, Davis MR, ...
    https://medlineplus.gov/genetics/condition/malignant-hyperthermia - Genetics
  10. Periventricular heterotopia 
    ... A; Deciphering Developmental Disorders study; Moise M, Weirauch NB, Guerrini R, Boland A, Olaso R, Masson C, ...
    https://medlineplus.gov/.../condition/periventricular-heterotopia - Genetics
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