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Résultats : 4198  publications trouvées.

Jean-Christophe", .  et al. 0

it is the second leading genetic cause of intellectual disability in girls after Down syndrome. RTT affects not only neurological function but also a wide array of non-neurological organs. RTT-related disorders involve abnormalities of the respiratory

muscular
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, .  et al. 0

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Zh Nevrol Psikhiatr Im S S Korsakova. 2002, .  et al. 0

Vorsanova SG

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Maroofian R, .  et al. 0

Hertecant J
Chabrol B - issue: Scherf de Almeida T - volume: Molinari F - pages: Makhdoom EUH.

Villard L, .  et al. 0

Gecz J

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and found that these individuals were mosaic for the KCNQ2 mutation. These findings have important consequences for genetic counseling and indicate that neurological development can be normal in the presence of somatic mosaicism for a KCNQ2 mutation., .  et al. 0

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Anne, .  et al. 0

Josette; Villard

significantly improved their respiratory rhythm during several weeks. In addition
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, .  et al. 0

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Hum Mol Genet. 2002 Oct 15, .  et al. 0

Braybrook C

10.1093/hmg/11.22.2793
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Maqbool S, .  et al. 0

Rahman F

Khan S
Villard L - issue: Houlden H - volume: N - pages: Motameny S.

Villard L, .  et al. 0

Fontés M

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Sandra, .  et al. 0

Pierre; Mignon-Ravix

Tony; Villard
indicate uniparental disomy or parental consanguinity that is suggestive of an increased probability of recessive disease. RESULTS: We screened 149 Lebanese probands with I - issue: as well as regions of homozygosity - volume: that - pages: developmental delay (DD).

Pierre, .  et al. 0

Eve; Legeai-Mallet

Laurent; Philip
- issue: there is evidence of generalized cartilage d - volume: - pages: and molecular data from two additional patients carrying balanced translocations involving the same 2q37.1 chromosome band and chromosomes 8 and 13.

Geoffroy, .  et al. 0

Reza; Accogli

Mathilde; Bertini
Christine; Danhaive - issue: Christelle; Cilio - volume: Maria Roberta; Cornet - pages: Alfredo; Bubshait.

myo-inositol, .  et al. 0

vs. wild-type mice; p = 0.034); (ii) reduced choline phospholipid turnover in Mecp2-null vs. wild-type mice

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Genet Test. 2002 Spring, .  et al. 0

Bienvenu T

10.1089/109065702760093843
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Bourdon V, .  et al. 0

Fontes M

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Mégarbané A, .  et al. 0

Villard L.;"Eur J Med Genet. 2009 Jul-Aug;52(4):211-7. doi: 10.1016/j.ejmg.2009.04.002. Epub 2009 Apr 18.";Haddad MR;Eur J Med Genet;2009;22/04/2009;;;10.1016/j.ejmg.2009.04.002

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10q25.2, .  et al. 0

and 8p23.1) in 3 patients born to consanguineous parents

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