"miller-diekers syndrom" or "microdeletion syndromes" Treff i utvalgte kilder: [Skjul boksen]
  1. Frambu
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    www.frambu.no/miller-diekers-syndrom
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    Miller-Diekers syndrom (MDS) preges ofte av flere alvorlige misdannelser, klassisk lissencefali, et spesielt utseende, veksthemning, utviklingshemning og endringer ...
  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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    ... CMD Leighs syndrom CNCL LGMD Edwards syndrom Mukopolysakkaridoser Miller-Diekers syndrom Limb-girdle muskeldystrofi Arvelig spastisk paraparese Marinesco-Sjögrens ...
  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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