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Results 11 - 20 of 1,198 for MS
  1. CUL3-related neurodevelopmental disorder 
    ... PubMed Blackburn PR, Ebstein F, Hsieh TC, Motta M, Radio FC, Herkert JC, Rinne T, Thiffault I, Rapp M, Alders M, Maas S, Gerard B, Smol T, Vincent-Delorme ...
    https://medlineplus.gov/.../cul3-related-neurodevelopmental-disorder - Genetics
  2. Stickler syndrome 
    ... on PubMed Central Annunen S, Korkko J, Czarny M, Warman ML, Brunner HG, Kaariainen H, Mulliken JB, ... A, Mukai S, Olsen BR, Shinno N, Somer M, Vikkula M, Zlotogora J, Prockop DJ, Ala-Kokko ...
    https://medlineplus.gov/genetics/condition/stickler-syndrome - Genetics
  3. 2-hydroxyglutaric aciduria 
    ... AND L-2-HYDROXYGLUTARIC ACIDURIA; D2L2AD PubMed Kranendijk M, Struys EA, Gibson KM, Wickenhagen WV, Abdenur JE, ... 10.1002/humu.21186. Citation on PubMed Kranendijk M, Struys EA, Salomons GS, Van der Knaap MS, ...
    https://medlineplus.gov/.../condition/2-hydroxyglutaric-aciduria - Genetics
  4. Familial encephalopathy with neuroserpin inclusion bodies 
    ... archneur.58.9.1429. Citation on PubMed Coutelier M, Andries S, Ghariani S, Dan B, Duyckaerts C, ... C, Deconinck N, Sonderegger P, Scaravilli F, Vikkula M, Godfraind C. Neuroserpin mutation causes electrical status epilepticus ...
    https://medlineplus.gov/...lopathy-with-neuroserpin-inclusion-bodies - Genetics
  5. Loeys-Dietz syndrome 
    ... LOEYS-DIETZ SYNDROME 3; LDS3 PubMed Arslan-Kirchner M, Epplen JT, Faivre L, Jondeau G, Schmidtke J, ... Beverloo B, de Klein A, Pardo L, Lammens M, Evers C, Devriendt K, Dumoulein M, Timmermans J, ...
    https://medlineplus.gov/genetics/condition/loeys-dietz-syndrome - Genetics
  6. 15q13.3 microdeletion 
    ... Ben-Shachar S, Lanpher B, German JR, Qasaymeh M, Potocki L, Nagamani SC, Franco LM, Malphrus A, ... C, Skinner SA, Bernes S, Armstrong N, Shinawi M, Stankiewicz P, Patel A, Cheung SW, Lupski JR, ...
    https://medlineplus.gov/genetics/condition/15q133-microdeletion - Genetics
  7. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy 
    ... REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 PubMed Constantine GM, Lionakis MS. Lessons from primary immunodeficiencies: Autoimmune regulator and autoimmune ...
    https://medlineplus.gov/...inopathy-candidiasis-ectodermal-dystrophy - Genetics
  8. Autosomal dominant hyper-IgE syndrome 
    ... J, Guery R, Belkadi A, Guerin A, Migaud M, Rattina V, Ailal F, Benhsaien I, Bouaziz M, Habib T, Chaussabel D, Marr N, El-Benna ... Muller-Fleckenstein I, Fleckenstein B, Chandesris MO, Titeux M, Fraitag S, Alyanakian MA, Leruez-Ville M, Picard ...
    https://medlineplus.gov/.../autosomal-dominant-hyper-ige-syndrome - Genetics
  9. Familial focal epilepsy with variable foci 
    ... D, Cossette P, Nguyen S, Lambrecq V, Vlaicu M, Daniau M, Bielle F, Andermann E, Andermann F, Leguern E, ... F, Andermann E, van den Maagdenberg AM, Pandolfo M, Berkovic SF, Scheffer IE. Mutations in DEPDC5 cause ...
    https://medlineplus.gov/...amilial-focal-epilepsy-with-variable-foci - Genetics
  10. ADNP syndrome 
    ... G, Grigg I, Karmon G, Giladi E, Eger M, Gabet Y, Pasmanik-Chor M, Cappuyns E, Elpeleg O, Kooy RF, Bedrosian-Sermone ... CL, Willemsen MH, Vissers LE, Yntema HG, Bakshi M, Wilson M, Witherspoon KT, Malmgren H, Nordgren A, ...
    https://medlineplus.gov/genetics/condition/adnp-syndrome - Genetics
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