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Refined by: collection: MEDLINE/PubMed (NLM) remove material type: Articles remove subject: Adult remove subject: Adult–Genetics remove
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Familial resemblance of bone mineral density between females 18 years and older and their mothers

Canadian Journal of Public Health, Sep/Oct 2001, Vol.92(5), pp.353-8 [Peer Reviewed Journal]

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X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production.

The Journal of experimental medicine, July 10, 2006, Vol.203(7), pp.1745-1759 [Peer Reviewed Journal]

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Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy.

Epilepsy research, August 2007, Vol.76(1), pp.41-48 [Peer Reviewed Journal]

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Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.

American journal of human genetics, August 13, 2010, Vol.87(2), pp.189-198 [Peer Reviewed Journal]

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Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation

Journal of Clinical Investigation, 4 January 2011, Vol.121(1), pp.106-112 [Peer Reviewed Journal]

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Ultra-resistant schizophrenia is not associated with the multidrug-resistant transporter 1 (MDR1) gene rs1045642 variant.

Journal of clinical psychopharmacology, April 2011, Vol.31(2), pp.236-238 [Peer Reviewed Journal]

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KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron

Nature Genetics, Apr 2012, Vol.44(4), pp.456-60, S1-3 [Peer Reviewed Journal]

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An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis.

Immunity, October 17, 2013, Vol.39(4), pp.676-686 [Peer Reviewed Journal]

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DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy

Neurology, 10 June 2014, Vol.82(23), pp.2101-6 [Peer Reviewed Journal]

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Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.

Blood, June 23, 2016, Vol.127(25), pp.3154-3164 [Peer Reviewed Journal]

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by this Author/Contributor:

  1. Picard, C.
  2. Picard, Capucine
  3. Fieschi, Claire
  4. Casanova, Jean-Laurent
  5. Leguern, Eric

on this subject:

  1. Female
  2. Humans
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