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Results 1 - 10 of 56 for Santos syndrome
  1. Trichorhinophalangeal syndrome type I 
    ... PubMed Central Dias C, Isidoro L, Santos M, Santos H, Marques JS. Trichorhinophalangeal Syndrome Type I: A Patient with Two Novel and ...
    https://medlineplus.gov/.../trichorhinophalangeal-syndrome-type-i - Genetics
  2. Simpson-Golabi-Behmel syndrome 
    ... PubMed Tenorio J, Arias P, Martinez-Glez V, Santos F, Garcia-Minaur S, Nevado J, Lapunzina P. Simpson-Golabi-Behmel syndrome types I and II. Orphanet J Rare Dis. ...
    https://medlineplus.gov/.../condition/simpson-golabi-behmel-syndrome - Genetics
  3. SOS1 gene 
    ... on PubMed Martinez Planello A, Sotillo M, Rodriguez-Santos F. Cognitive profile of a child with SOS1 mutation in Noonan syndrome. Neurologia (Engl Ed). 2018 Mar;33(2):137- ...
    https://medlineplus.gov/genetics/gene/sos1 - Genetics
  4. MSH6 gene 
    ... Schneider NB, Pastor T, Paula AE, Achatz MI, Santos ARD, Vianna FSL, Rosset C, Pinheiro M, Ashton-Prolla P, Moreira MAM, Palmero EI; Brazilian Lynch Syndrome Study Group. Germline MLH1, MSH2 and MSH6 variants ...
    https://medlineplus.gov/genetics/gene/msh6 - Genetics
  5. Smith-Kingsmore syndrome 
    ... for Rare Disorders (NORD) ClinicalTrials.gov SMITH-KINGSMORE SYNDROME; SKS PubMed Gordo G, Tenorio J, Arias P, Santos-Simarro F, Garcia-Minaur S, Moreno JC, Nevado ...
    https://medlineplus.gov/genetics/condition/smith-kingsmore-syndrome - Genetics
  6. MSH2 gene 
    ... Schneider NB, Pastor T, Paula AE, Achatz MI, Santos ARD, Vianna FSL, Rosset C, Pinheiro M, Ashton-Prolla P, Moreira MAM, Palmero EI; Brazilian Lynch Syndrome Study Group. Germline MLH1, MSH2 and MSH6 variants ...
    https://medlineplus.gov/genetics/gene/msh2 - Genetics
  7. Baller-Gerold syndrome 
    ... 1979.02130120071014. No abstract available. Citation on PubMed Santos de Oliveira R, Lajeunie E, Arnaud E, Renier D. Fetal exposure to sodium valproate associated with Baller-Gerold syndrome: case report and review of the literature. Childs ...
    https://medlineplus.gov/genetics/condition/baller-gerold-syndrome - Genetics
  8. Trichorhinophalangeal syndrome type II 
    ... M, Baumer A, Superti-Furga A, Moreira LM, Santo LD, Schiper PP, Carvalho JH, Giedion A. Long-term follow-up of four patients with Langer-Giedion syndrome: clinical course and complications. Am J Med Genet ...
    https://medlineplus.gov/.../trichorhinophalangeal-syndrome-type-ii - Genetics
  9. CYLD cutaneous syndrome 
    ... 11. Citation on PubMed Arruda AP, Cardoso-Dos-Santos AC, Mariath LM, Feira MF, Kowalski TW, Bezerra KRF, da Silva LACT, Ribeiro EM, Schuler-Faccini L. A large family with CYLD cutaneous syndrome: medical genetics at the community level. J Community ...
    https://medlineplus.gov/genetics/condition/cyld-cutaneous-syndrome - Genetics
  10. KCNQ1 gene 
    ... Valdecantos A, Brugada J, Oliva A, Burashnikov E, Santos-de-Soto J, Grueso-Montero J, Diaz-Enfante E, Brugada P, Sachse F, Sanguinetti MC, Brugada R. De novo KCNQ1 mutation responsible for atrial fibrillation and short QT syndrome in utero. Cardiovasc Res. 2005 Dec 1;68( ...
    https://medlineplus.gov/genetics/gene/kcnq1 - Genetics
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