"smith-magenis syndrom" or "microdeletion syndromes" Treff i utvalgte kilder: [Skjul boksen]
  1. Frambu
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    www.frambu.no/smith-magenis-syndrom
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    Smith-Magenis' syndrom er en sjelden, arvelig årsak til utvikingshemning av lett til moderat grad. Tilstanden innebærer et typisk ...
  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. Frambu
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    www.frambu.no
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    ... syndrom MELAS Aceruloplasminemi Kearns-Sayres syndrom Bilateral polymicrogyri Smith-Magenis' syndrom Mannosidose NCL Pompes sykdom Hemihypertrofisyndromer 47 XXY syndrom ...
  5. 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. ...
  6. 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. ...
  7. 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. ...
  8. 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. ...
  9. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/781/differentials
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    ... trauma. INVESTIGATIONS No differentiating test. Post-traumatic hypersomnolence Smith-Magenis syndrome SIGNS / SYMPTOMS INVESTIGATIONS SIGNS / SYMPTOMS Disrupted sleep patterns, ...
  10. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/781/differentials
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    ... trauma. INVESTIGATIONS No differentiating test. Post-traumatic hypersomnolence Smith-Magenis syndrome SIGNS / SYMPTOMS INVESTIGATIONS SIGNS / SYMPTOMS Disrupted sleep patterns, ...
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