"weavers syndrom" or "microdeletion syndromes" Treff i utvalgte kilder: [Skjul boksen]
  1. Frambu
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    www.frambu.no/weavers-syndrom
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    Weavers syndrom kjennetegnes av skjelettforandringer og forsinket utvikling. Det regnes som en overveksttilstand da ben hos personer med Weavers syndrom vokser og utvikler seg raskere enn vanlig (økt ...
  2. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/596/differentials
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    ... videos Evidence Drugs Differentials VIEW ALL  22q11.2 Microdeletion syndrome/DiGeorge syndrome SIGNS / SYMPTOMS INVESTIGATIONS SIGNS / SYMPTOMS Abnormal ... gov/pubmed/20551144?tool=bestpractice.com 22q11.2 Microdeletion syndrome/DiGeorge syndrome Omenn's syndrome SIGNS / SYMPTOMS INVESTIGATIONS ...
  3. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/596/differentials
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    ... References View PDF Differentials VIEW ALL  22q11.2 Microdeletion Syndrome/DiGeorge syndrome SIGNS / SYMPTOMS INVESTIGATIONS SIGNS / SYMPTOMS Abnormal ... gov/pubmed/20551144?tool=bestpractice.com 22q11.2 Microdeletion Syndrome/DiGeorge syndrome Omenn syndrome SIGNS / SYMPTOMS INVESTIGATIONS SIGNS / ...
  4. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/947/pdf/947.pdf
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    ... et al. Clinical heterogeneity of the chromosome 22q11 microdeletion syndrome. Rev Med Chil. 2001;129:515-521. Abstract ... Palate abnormalities in Chilean patients with chromosome 22q11 microdeletion syndrome. Int J Pediatr Otorhinolaryngol. 2012;76:1726-1728. ...
  5. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/947/references
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    ... et al. Clinical heterogeneity of the chromosome 22q11 microdeletion syndrome. Rev Med Chil. 2001;129:515-521. Abstract ... Palate abnormalities in Chilean patients with chromosome 22q11 microdeletion syndrome. Int J Pediatr Otorhinolaryngol. 2012;76:1726-1728. ...
  6. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/947/pdf/947.pdf
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    ... et al. Clinical heterogeneity of the chromosome 22q11 microdeletion syndrome. Rev Med Chil. 2001;129:515-521. Abstract ... Palate abnormalities in Chilean patients with chromosome 22q11 microdeletion syndrome. Int J Pediatr Otorhinolaryngol. 2012;76:1726-1728. ...
  7. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/947/references
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    ... et al. Clinical heterogeneity of the chromosome 22q11 microdeletion syndrome. Rev Med Chil. 2001;129:515-521. Abstract ... Palate abnormalities in Chilean patients with chromosome 22q11 microdeletion syndrome. Int J Pediatr Otorhinolaryngol. 2012;76:1726-1728. ...
  8. Frambu
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    www.frambu.no/diagnoser
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    ... Lesch-Nyhans syndrom Klippel-Trenaunays syndrom Cerebral gigantisme Weavers syndrom Muskeldystrofi, medfødt CDG Spinal muskelatrofi INAD Trippel X ... schwannomatose Von Hippel-Lindaus syndrom Von Recklinghausens sykdom Weavers syndrom Werdnig-Hoffmanns sykdom Werners syndrom Williams' syndrom Wolf- ...
  9. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/947/complications
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    ... A comparative study of hearing loss in two microdeletion syndromes: velocardiofacial (22q11.2 deletion) and Williams (7q11.23 ... et al. Endocrine manifestations of chromosome 22q11.2 microdeletion syndrome. Horm Res. 2005;63:294-299. http://www. ...
  10. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/947/complications
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    ... A comparative study of hearing loss in two microdeletion syndromes: velocardiofacial (22q11.2 deletion) and Williams (7q11.23 ... et al. Endocrine manifestations of chromosome 22q11.2 microdeletion syndrome. Horm Res. 2005;63:294-299. http://www. ...
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