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Results 91 - 100 of 1,198 for MS
  1. Renpenning syndrome 
    ... Disorders (NORD) RENPENNING SYNDROME 1; RENS1 PubMed Cossee M, Demeer B, Blanchet P, Echenne B, Singh D, Hagens O, Antin M, Finck S, Vallee L, Dollfus H, Hegde S, ...
    https://medlineplus.gov/genetics/condition/renpenning-syndrome - Genetics
  2. Silver-Russell syndrome 
    ... Abu-Amero S, Monk D, Frost J, Preece M, Stanier P, Moore GE. The genetic aetiology of ... Citation on PubMed Eggermann T, Spengler S, Gogiel M, Begemann M, Elbracht M. Epigenetic and genetic diagnosis ...
    https://medlineplus.gov/genetics/condition/silver-russell-syndrome - Genetics
  3. Spastic paraplegia type 7 
    ... the proteins that form a complex called the m-AAA protease. The m-AAA protease acts as an enzyme and is ... is a mutation in the SPG7 gene, the m-AAA protease cannot function correctly. Nonfunctional m-AAA ...
    https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-7 - Genetics
  4. SATB2-associated syndrome 
    ... NORD) GLASS SYNDROME; GLASS PubMed Bengani H, Handley M, Alvi M, Ibitoye R, Lees M, Lynch SA, Lam W, Fannemel M, Nordgren A, Malmgren H, Kvarnung M, Mehta S, ...
    https://medlineplus.gov/genetics/condition/satb2-associated-syndrome - Genetics
  5. Spinal muscular atrophy with lower extremity predominance 
    ... SMALED2A PubMed Harms MB, Ori-McKenney KM, Scoto M, Tuck EP, Bell S, Ma D, Masi S, Allred P, Al-Lozi M, Reilly MM, Miller LJ, Jani-Acsadi A, Pestronk ...
    https://medlineplus.gov/...atrophy-with-lower-extremity-predominance - Genetics
  6. Ehlers-Danlos syndrome 
    ... PubMed Bowen JM, Sobey GJ, Burrows NP, Colombi M, Lavallee ME, Malfait F, Francomano CA. Ehlers-Danlos ... Kosho T, Mendoza-Londono R, Pope MF, Rohrbach M, Van Damme T, Vandersteen A, van Mourik C, ...
    https://medlineplus.gov/genetics/condition/ehlers-danlos-syndrome - Genetics
  7. LMNA-related congenital muscular dystrophy 
    ... PubMed Azibani F, Brull A, Arandel L, Beuvin M, Nelson I, Jollet A, Ziat E, Prudhon B, Benkhelifa-Ziyyat S, Bitoun M, Lorain S, Bonne G, Bertrand AT. Gene Therapy ...
    https://medlineplus.gov/...mna-related-congenital-muscular-dystrophy - Genetics
  8. Arterial tortuosity syndrome 
    ... K, Albrecht B, Ramos-Arroyo MA, Doco-Fenzy M, Hennekam RC, Pyeritz RE, Krogmann ON, Gillessen-kaesbach ... S, Francannet C, Mauran P, Booth C, Barrow M, Dekens R, Loeys BL, Coucke PJ, De Paepe ...
    https://medlineplus.gov/.../condition/arterial-tortuosity-syndrome - Genetics
  9. Chorea-acanthocytosis 
    ... F, Afawi Z, Korczyn AD, Oliver KL, Pendziwiat M, Nakamura M, Sano A, Helbig I, Berkovic SF, Blatt I. ... NW, Bohlega S, Dotti MT, Federico A, Shizuka M, Tanaka M, Watanabe M, Ikeda Y, Brin M, ...
    https://medlineplus.gov/genetics/condition/chorea-acanthocytosis - Genetics
  10. Ataxia with oculomotor apraxia 
    ... Epub 2011 Dec 8. Citation on PubMed Anheim M, Monga B, Fleury M, Charles P, Barbot C, Salih M, Delaunoy JP, Fritsch M, Arning L, Synofzik M, Schols L, Sequeiros J, ...
    https://medlineplus.gov/.../condition/ataxia-with-oculomotor-apraxia - Genetics
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