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Results 1 - 10 of 196 for Sm
  1. Smith-Magenis syndrome 
    ... deletion syndrome Deletion 17p syndrome Partial monosomy 17p SMS Genetic Testing Registry: Smith-Magenis syndrome Smith-Magenis ... Rare Disorders (NORD) ClinicalTrials.gov SMITH-MAGENIS SYNDROME; SMS PubMed Carmona-Mora P, Encina CA, Canales CP, ...
    https://medlineplus.gov/genetics/condition/smith-magenis-syndrome - Genetics
  2. Nearsightedness 
    ... Yonova-Doing E, Klein R, Klein BE, Hosseini SM, Paterson AD; Diabetes Control and Complications Trial/Epidemiology ... D, Mackey DA, Klaver CC, Wong TY, Saw SM, Baird PN. Nine loci for ocular axial length ...
    https://medlineplus.gov/genetics/condition/nearsightedness - Genetics
  3. Snyder-Robinson syndrome 
    ... Snyder-Robinson syndrome results from mutations in the SMS gene. This gene provides instructions for making an ... other parts of the body.Mutations in the SMS gene greatly reduce or eliminate the activity of ...
    https://medlineplus.gov/genetics/condition/snyder-robinson-syndrome - Genetics
  4. Autosomal dominant hyper-IgE syndrome 
    ... P, Matta JR, Hadigan C, Pettigrew RI, Holland SM, Gharib AM. Coronary artery abnormalities in Hyper-IgE ... LS, Darnell D, Davis J, Puck JM, Holland SM. Brain abnormalities in patients with hyperimmunoglobulin E syndrome. ...
    https://medlineplus.gov/.../autosomal-dominant-hyper-ige-syndrome - Genetics
  5. Facioscapulohumeral muscular dystrophy 
    ... M, Venance SL, Frants RR, van der Maarel SM, Tawil R. Clinical features of facioscapulohumeral muscular dystrophy ... S, Padberg GW, Lunt PW, van der Maarel SM. Best practice guidelines on genetic diagnostics of Facioscapulohumeral ...
    https://medlineplus.gov/.../facioscapulohumeral-muscular-dystrophy - Genetics
  6. PGM3-congenital disorder of glycosylation 
    ... Central Sassi A, Lazaroski S, Wu G, Haslam SM, Fliegauf M, Mellouli F, Patiroglu T, Unal E, ... KM, Sasa GS, Krance RA, Martinez CA, Abraham SM, Speckmann C, Ehl S, Hall P, Forbes LR, ...
    https://medlineplus.gov/...pgm3-congenital-disorder-of-glycosylation - Genetics
  7. Dowling-Degos disease 
    ... 4; DDD4 PubMed Basmanav FB, Oprisoreanu AM, Pasternack SM, Thiele H, Fritz G, Wenzel J, Grosser L, ... RC, Planko L, Eigelshoven S, Hanneken S, Pasternack SM, Bussow H, Van Den Bogaert K, Wenzel J, ...
    https://medlineplus.gov/genetics/condition/dowling-degos-disease - Genetics
  8. 1q21.1 microdeletion 
    ... PI, Grange DK, Naqvi S, Garnica AD, Bernes SM, Fong CT, Summers A, Walters WD, Lupski JR, ... AJ, Pavlidis P, Qiao Y, Holden JJ, Lewis SM, O'Driscoll M, Rajcan-Separovic E. Understanding the ...
    https://medlineplus.gov/genetics/condition/1q211-microdeletion - Genetics
  9. Floating-Harbor syndrome 
    ... Citation on PubMed Hood RL, Lines MA, Nikkel SM, Schwartzentruber J, Beaulieu C, Nowaczyk MJ, Allanson J, ... FORGE Canada Consortium; Majewski J, Bulman DE, White SM, Boycott KM. Mutations in SRCAP, encoding SNF2-related ...
    https://medlineplus.gov/genetics/condition/floating-harbor-syndrome - Genetics
  10. Shwachman-Diamond syndrome 
    ... C, Costanzo M, Boone C, McKenzie AN, Freund SM, Warren AJ. Uncoupling of GTP hydrolysis from eIF6 ... B, Wong TE, Jones AT, Harris RE, Davies SM, Dale DC, Shimamura A. Variable clinical presentation of ...
    https://medlineplus.gov/.../condition/shwachman-diamond-syndrome - Genetics
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