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Results 1 - 10 of 20 for Marshall syndrome
  1. Stickler syndrome 
    ... Registry: Otospondylomegaepiphyseal dysplasia, autosomal dominant Genetic Testing Registry: Marshall syndrome Genetic Testing Registry: Stickler syndrome Genetic Testing Registry: ...
    https://medlineplus.gov/genetics/condition/stickler-syndrome - Genetics
  2. Weaver syndrome 
    Weaver syndrome is a condition that involves tall stature with or without a large head size (macrocephaly), a ...
    https://medlineplus.gov/genetics/condition/weaver-syndrome - Genetics
  3. 19p13.13 deletion syndrome 
    ... decay engender either a Sotos-like or a Marshall-Smith syndrome. Am J Hum Genet. 2010 Aug 13;87( ...
    https://medlineplus.gov/genetics/condition/19p1313-deletion-syndrome - Genetics
  4. Alström syndrome 
    ... on PubMed or Free article on PubMed Central Marshall JD, Beck S, Maffei P, Naggert JK. Alstrom syndrome. Eur J Hum Genet. 2007 Dec;15(12): ... 1001/archinte.165.6.675. Citation on PubMed Marshall JD, Maffei ... utility gene card for: Alstrom Syndrome - update 2013. Eur J Hum Genet. 2013 Nov; ...
    https://medlineplus.gov/genetics/condition/alstrom-syndrome - Genetics
  5. 22q13.3 deletion syndrome 
    ... Tse WY, Stapleton GA, Phelan MC, Hu S, Marshall J, McDermid HE. Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 ...
    https://medlineplus.gov/genetics/condition/22q133-deletion-syndrome - Genetics
  6. Simpson-Golabi-Behmel syndrome 
    ... Baumer A, Maier O, Zschocke J, Weksberg R, Marshall CR, Rauch A. A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2. Am J Med Genet A. 2016 ...
    https://medlineplus.gov/.../condition/simpson-golabi-behmel-syndrome - Genetics
  7. Robinow syndrome 
    ... on PubMed Roifman M, Marcelis CL, Paton T, Marshall C, Silver ... Robinow syndrome suggests specificity of genotype and phenotype. Clin Genet. ...
    https://medlineplus.gov/genetics/condition/robinow-syndrome - Genetics
  8. Wolfram syndrome 
    ... on PubMed or Free article on PubMed Central Marshall BA, ... characteristics of early Wolfram syndrome. Orphanet J Rare Dis. 2013 Apr 27;8: ...
    https://medlineplus.gov/genetics/condition/wolfram-syndrome - Genetics
  9. 3MC syndrome 
    ... Furze CM, Gingras AR, Yoshizaki T, Ohtani K, Marshall JE, Wallis AK, Schwaeble WJ, El-Mezgueldi M, Mitchell DA, Moody PC, Wakamiya N, Wallis R. Molecular basis of sugar recognition by collectin-K1 and the effects of mutations associated with 3MC syndrome. BMC Biol. 2015 Apr 17;13:27. doi: ...
    https://medlineplus.gov/genetics/condition/3mc-syndrome - Genetics
  10. PACS1 syndrome 
    ... Van Allen M, van Karnebeek CD, Stavropoulos DJ, Marshall CR, Merico D, Gregor A, Zweier C, Hopkin RJ, Chu YW, Chung BH, de Vries BB, Devriendt K, Hurles ME, Brunner HG; DDD study. Clinical delineation of the PACS1-related syndrome--Report on 19 patients. Am J Med Genet ...
    https://medlineplus.gov/genetics/condition/pacs1-syndrome - Genetics
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