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Results 1 - 10 of 13 for robert syndrome 20
  1. 3MC syndrome 
    ... ajmg.a.30878. Citation on PubMed Urquhart J, Roberts R, de Silva ... Jan 20. Citation on PubMed Venkatraman Girija U, Furze CM, ...
    https://medlineplus.gov/genetics/condition/3mc-syndrome - Genetics
  2. Ehlers-Danlos syndrome 
    ... as many as 1 in 5,000 to 20,000 people, while the classical type probably occurs in 1 in 20,000 to 40,000 people. Other forms of ... Variants (also known as mutations) in at least 20 genes have been found to cause the Ehlers- ...
    https://medlineplus.gov/genetics/condition/ehlers-danlos-syndrome -
  3. Noonan syndrome 
    ... The cause of Noonan syndrome in 15 to 20 percent of people with this disorder is unknown. ... 10.1136/jmedgenet-2015-103018. Epub 2015 Mar 20. Citation on PubMed
    https://medlineplus.gov/genetics/condition/noonan-syndrome - Genetics
  4. Rippling muscle disease 
    ... to spread across the muscle, lasting 5 to 20 seconds. A bump or other sudden impact on ... disease. Ann Neurol. 2003 Apr;53(4):512-20. doi: 10.1002/ana.10501. Citation on PubMed ...
    https://medlineplus.gov/genetics/condition/rippling-muscle-disease - Genetics
  5. Sézary syndrome 
    ... 0008-5472.CAN-09-2367. Epub 2009 Oct 20. Citation on PubMed Hwang ST, Janik JE, Jaffe ... RM, Castillo-Mosquera N, Nuttall EA, Paul A, Roberts CA, Solomonidis EG, ... and DNA repair in Sezary syndrome. Blood. 2016 Jun 30;127(26):3387-97. ...
    https://medlineplus.gov/genetics/condition/sezary-syndrome - Genetics
  6. Noonan syndrome with multiple lentigines 
    ... of the heart (the left ventricle). Up to 20 percent of people with Noonan syndrome with multiple ... McCormick F, Plotkin SR, Rauen KA, Reilly K, Roberts A, Sandler A, Siegel D, Walsh ... LEOPARD syndrome-associated SHP2 mutations. Biochemistry. 2014 Jul 1;53( ...
    https://medlineplus.gov/.../noonan-syndrome-with-multiple-lentigines - Genetics
  7. 15q11-q13 duplication syndrome 
    ... four copies of the duplicated segment.In about 20 percent of cases of dup15q syndrome, the duplication ... Free article on PubMed Central Kwasnicka-Crawford DA, Roberts W, ... S. Maternal 15q Duplication Syndrome. 2016 Jun 16 [updated 2021 Jul 15]. In: ...
    https://medlineplus.gov/.../condition/15q11-q13-duplication-syndrome - Genetics
  8. 6q24-related transient neonatal diabetes mellitus 
    ... maternal copy of the genes (maternal hypomethylation). Approximately 20 percent of cases of 6q24-related transient neonatal ... G, Labit H, Marquis E, Bellanne-Chantelot C, Robert JJ. Genetic and epigenetic ... syndrome presenting as transient neonatal diabetes mellitus. Hum Genet. ...
    https://medlineplus.gov/...ated-transient-neonatal-diabetes-mellitus - Genetics
  9. Ulcerative colitis 
    ... 12):1053-1062. doi: 10.1016/S2468-1253(20)30300-9. Epub 2020 Oct 2. Citation on ...
    https://medlineplus.gov/genetics/condition/ulcerative-colitis - Genetics
  10. 16p11.2 deletion syndrome 
    ... 1007/s13353-011-0063-z. Epub 2011 Sep 20. No abstract available. Citation on PubMed Fernandez BA, Roberts W, Chung B, Weksberg R, Meyn S, Szatmari P, Joseph-George AM, Mackay S, Whitten ... A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and ...
    https://medlineplus.gov/genetics/condition/16p112-deletion-syndrome - Genetics
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