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Results 71 - 80 of 4,715 for R -"AS-1"
  1. Anonychia congenita 
    ... gene provides instructions for making a protein called R-spondin-4. R-spondin-4 plays a role in the Wnt ... role in the growth and development of nails. R-spondin-4 is active in the skeleton and ...
    https://medlineplus.gov/genetics/condition/anonychia-congenita - Genetics
  2. Senior-Løken syndrome 
    ... 7; SLSN7 PubMed Caridi G, Murer L, Bellantuono R, Sorino P, Caringella DA, Gusmano R, Ghiggeri GM. Renal-retinal syndromes: association of retinal ... Citation on PubMed Otto E, Hoefele J, Ruf R, Mueller AM, Hiller KS, Wolf MT, Schuermann MJ, ...
    https://medlineplus.gov/genetics/condition/senior-loken-syndrome - Genetics
  3. CREBBP gene 
    ... MYELOID; AML NCBI Gene ClinVar Banka S, Sayer R, Breen C, Barton S, Pavaine J, Sheppard SE, ... abstract available. Citation on PubMed Hallam TM, Bourtchouladze R. Rubinstein-Taybi syndrome: molecular findings and therapeutic approaches ...
    https://medlineplus.gov/genetics/gene/crebbp - Genetics
  4. Mucolipidosis type IV 
    ... CR, Quarrell OW, Slaugenhaupt SA, Goldin E, Schiffmann R. The neurogenetics of mucolipidosis type IV. Neurology. 2002 ... Central Misko A, Grishchuk Y, Goldin E, Schiffmann R. Mucolipidosis IV. 2005 Jan 28 [updated 2021 Feb ...
    https://medlineplus.gov/genetics/condition/mucolipidosis-type-iv - Genetics
  5. Polymicrogyria 
    ... on PubMed Central Guerreiro MM, Andermann E, Guerrini R, Dobyns WB, Kuzniecky R, Silver K, Van Bogaert P, Gillain C, David ... G, Rosati A, Bartolomei F, Parmeggiani A, Paetau R, Salonen O, Ignatius J, Borgatti R, Zucca C, ...
    https://medlineplus.gov/genetics/condition/polymicrogyria - Genetics
  6. Koolen-de Vries syndrome 
    ... Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993- ... Knight SJ, Goldenberg A, Saugier-Veber P, Pfundt R, Vissers LE, Destree A, Grisart B, Rooms L, ...
    https://medlineplus.gov/genetics/condition/koolen-de-vries-syndrome - Genetics
  7. Myoclonic epilepsy with ragged-red fibers 
    ... Lopez-Gallardo E, Jou C, Bujan N, Montero R, Garcia-Cazorla A, Gonzaga D, Ferrer I, Briones P, Ruiz-Pesini E, Pineda M, Artuch R, Montoya J. New mitochondrial DNA mutations in tRNA ...
    https://medlineplus.gov/...myoclonic-epilepsy-with-ragged-red-fibers - Genetics
  8. Brugada syndrome 
    ... C, Brugada P, Borggrefe M, Brugada J, Brugada R, Corrado D, Gussak I, LeMarec H, Nademanee K, ... 1097(92)90253-j. Citation on PubMed Brugada R, Campuzano O, Sarquella-Brugada G, Brugada J, Brugada ...
    https://medlineplus.gov/genetics/condition/brugada-syndrome - Genetics
  9. Legius syndrome 
    ... M, Sahbatou M, Denayer E, Taniguchi K, Kato R, Somers R, Messiaen L, De Schepper S, Fryns JP, Cools ... Bever Y, Van den Ouweland AM, Van Minkelen R, de Goede-Bolder A, Oostenbrink R, Lakeman P, ...
    https://medlineplus.gov/genetics/condition/legius-syndrome - Genetics
  10. SMCHD1 gene 
    ... N, Yoshiura KI, Oufadem M, Beck TJ, McGowan R, Magee AC, Altmuller J, Dion C, Thiele H, ... D, Muhlbauer W, Okamoto N, Varghese V, Irving R, Sigaudy S, Williams D, Ahmed SF, Bonnard C, ...
    https://medlineplus.gov/genetics/gene/smchd1 - Genetics
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