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Results 21 - 29 of 29 for Turner syndrome
  1. Kleefstra syndrome 
    ... N, van Dooren M, Willemsen MH, Pfundt R, Turner A, Wilson M, McGaughran J, ... syndrome supports a major contribution of EHMT1 haploinsufficiency to ...
    https://medlineplus.gov/genetics/condition/kleefstra-syndrome - Genetics
  2. Epilepsy-aphasia spectrum 
    ... League Against Epilepsy classification and definition of epilepsy syndromes ... Tsai MH, Vears DF, Turner SJ, Smith RL, Berkovic SF, Sadleir LG, Scheffer ...
    https://medlineplus.gov/genetics/condition/epilepsy-aphasia-spectrum - Genetics
  3. 16p11.2 deletion syndrome 
    ... Vardy C, Crosbie V, Luscombe S, Tucker E, Turner L, Marshall CR, Scherer SW. Phenotypic spectrum associated ...
    https://medlineplus.gov/genetics/condition/16p112-deletion-syndrome - Genetics
  4. SLC35A2-congenital disorder of glycosylation 
    ... Ng BG, Buckingham KJ, Raymond K, Kircher M, Turner EH, He M, Smith JD, Eroshkin A, Szybowska ...
    https://medlineplus.gov/...35a2-congenital-disorder-of-glycosylation - Genetics
  5. Autism spectrum disorder 
    ... 2017 Mar 6. Citation on PubMed Wilfert AB, Turner TN, Murali SC, Hsieh P, Sulovari A, Wang ...
    https://medlineplus.gov/genetics/condition/autism-spectrum-disorder - Genetics
  6. Mandibulofacial dysostosis with microcephaly 
    ... Luquetti DV, Hing AV, Rieder MJ, Nickerson DA, Turner EH, Smith J, Park S, Cunningham ML. "Mandibulofacial ... patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome. Am J Med Genet A. 2009 May;149A( ...
    https://medlineplus.gov/...dibulofacial-dysostosis-with-microcephaly - Genetics
  7. 16p11.2 duplication 
    ... Vardy C, Crosbie V, Luscombe S, Tucker E, Turner L, Marshall CR, Scherer SW. Phenotypic spectrum associated ...
    https://medlineplus.gov/genetics/condition/16p112-duplication - Genetics
  8. Amyotrophic lateral sclerosis 
    ... on PubMed Kiernan MC, Vucic S, Cheah BC, Turner MR, Eisen A, Hardiman O, Burrell JR, Zoing ... PubMed McGeer PL, Steele JC. The ALS/PDC syndrome of Guam: potential biomarkers for an enigmatic disorder. ...
    https://medlineplus.gov/.../condition/amyotrophic-lateral-sclerosis - Genetics
  9. CASK-related intellectual disability 
    ... Partington M, Stevenson RE, Tolmie J, Yates JR, Turner G, Wilson M, Futreal AP, Corbett M, Shaw ...
    https://medlineplus.gov/.../cask-related-intellectual-disability - Genetics
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