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Results 1 - 9 of 9 for Richter syndrome
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  1. ... Saifi GM, Lupski JR, Delague V, Megarbane A, Richter A, Leshinsky E, Berkovic SF. An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures. Neurology. ...
  2. ... 0. Epub 2007 May 23. Citation on PubMed Richter D, Conley ME, Rohrer J, Myers LA, Zahradka K, Kelecic J, Sertic J, Stavljenic-Rukavina A. A contiguous deletion syndrome of X-linked agammaglobulinemia and sensorineural deafness. Pediatr ...
  3. ... 17. Citation on PubMed Bartsch O, Schmidt S, Richter M, Morlot S, Seemanova E, Wiebe G, Rasi S. DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS. ...
  4. ... 17. Citation on PubMed Bartsch O, Schmidt S, Richter M, Morlot S, Seemanova E, Wiebe G, Rasi S. DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS. ...
  5. ... on PubMed or Free article on PubMed Central Richter D, Conley ME, Rohrer J, Myers LA, Zahradka K, Kelecic J, Sertic J, Stavljenic-Rukavina A. A contiguous deletion syndrome of X-linked agammaglobulinemia and sensorineural deafness. Pediatr ...
  6. ... der Aa N. A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. Nat Genet. 2014 Apr;46(4):380-4. doi: 10.1038/ng.2899. Epub 2014 Feb 16. Citation on PubMed or Free article on PubMed Central Malishkevich A, Leyk J, Goldbaum O, Richter-Landsberg C, Gozes I. ADNP/ADNP2 expression in ...
  7. ... PubMed Central Ludwikowski B, Heger S, Datz N, Richter-Unruh A, Gonzalez R. Aromatase deficiency: rare cause ...
  8. ... LHCGR NCBI Gene ClinVar Kossack N, Simoni M, Richter-Unruh A, Themmen AP, Gromoll J. Mutations in ...
  9. ... 1. Citation on PubMed Holthoff HP, Baack M, Richter A, Ritzi M, Knippers R. Human protein MCM6 ... novel cell-cycle-regulated interaction of the Bloom syndrome helicase BLM with Mcm6 controls replication-linked processes. ...