5p or "microdeletion syndromes" or "cri du chat" Treff i utvalgte kilder: [Skjul boksen]
  1. Frambu
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    www.frambu.no/cri-du-chat-syndrom
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    Cri du chat syndrom (CDCS) er en sjelden, medfødt tilstand. Tilstanden ble første gang beskrevet av den franske legen ...
  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/diagnoser
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    ... Morquios sykdom (MPS IV) SENDA Asymptomatisk ALD Adrenoleukodystrofi Cri du chat syndrom Metakromatisk leukodystrofi CMD Leighs syndrom CNCL LGMD ... Jouberts syndrom og relaterte sykdommer Nevronal ceroid lipofuscinose 5p- ... laktacidose og slagliknende episoder (MELAS) ...
  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. RELIS
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    relis.arnett.no/Utredning_Ekstern.aspx?Relis=5&S=3362
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    ... fra lege: Har en pasient, et barn med Cri du chat, som har en besværlig epilepsi. Pasienten væter i ... ikke funnet omtale av desmopressinbruk hos pasienter med Cri du chat. Epilepsi og SIADH Desmopressin er kontraindisert ved SIADH. ...
  10. Frambu
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    www.frambu.no
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    ... Morquios sykdom (MPS IV) SENDA Asymptomatisk ALD Adrenoleukodystrofi Cri du chat syndrom Metakromatisk leukodystrofi CMD Leighs syndrom CNCL LGMD ... Jouberts syndrom og relaterte sykdommer Nevronal ceroid lipofuscinose 5p- ... laktacidose og slagliknende episoder (MELAS) ...
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