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Résultats : 4167  publications trouvées.

as well as the expression in human tissues, .  et al. 0

suggests that this gene might be involved in neuronal differentiation. Among the different morbid phenotypes assigned to the region

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Toutain A, .  et al. 0

Villard L

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respectively. We postulate that a gene might be disrupted by one of the breakpoints., .  et al. 0

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M.", .  et al. 0

associated with an ATR-X phenotype without alpha-thalassemia.;European journal of human genetics : EJHG;;1018-4813;10.1159/000472225;;"We have previously reported the isolation of a gene from Xq13

segregating in a family presenting an ""ATR-X' phenotype without alpha-thalassemia
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Susanne J. H., .  et al. 0

Camille L.; Maitland-van der Zee

Sammie; Anmyr
Vivien; Hertting - issue: Romana Gjergja; Gonçalves - volume: Ana L. N.; Hansted - pages: Amy; Fashina.


MRX, .  et al. 0

XDP

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Raynaud M, .  et al. 0

Bonnefond JP

Chelly J
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C., .  et al. 0

P. J.; Tardieu

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L., .  et al. 0

A. M.; Chelly

with high lod scores
- issue: - volume: - pages: extends over 2.1 Mb of genomic DNA. Restriction analysis of the YAC contig allowed us to map precisely the loci previously assigned to t.


Terence, .  et al. 0

Nikolett; Tosif

Daniel; Hashimoto
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Z., .  et al. 0

R.; Vessey

11 to 16 years). MAIN OUTCOME MEASURES: At the group level
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, .  et al. 0

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, .  et al. 0

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the previously known genes contained in the genomic clones have been isolated. In addition, .  et al. 0

we have isolated human genes that have already been described but not assigned to any chromosomal region.;1995-09;07/03/2016 15:25;07/03/2016 15:25;;617-622;;9;6;;Mamm. Genome;;;;;;;;eng;;;;;PubMed;;PMID: 8535069

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and brain fog (48%). Severe limitations in daily life were reported in 31% of patients. Most PPCC care programs organized in-person visits with multidisciplinary teams. Diagnostic testing for respiratory and cardiac morbidity was most frequently performed and seldom abnormal. Treatment was often limited to physical therapy and psychological support. CONCLUSIONS: We found substantial heterogeneity in both the diagnostics and management of PPCC, .  et al. 0

possibly explained by scarce scientific evidence and lack of standardized care. We present a list of components which future guidelines should address

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remarkably good agreement was found between the two sources of information. Digit preference was present to a limited degree. There were no important differences between the two questionnaire versions. At the individual level, .  et al. 0

some misclassification was evident. For the detection of clinical infertility

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Alcaraz G, .  et al. 0

Michon FX

Mignot C
Lesca G - issue: Trauffler A - volume: Badens C - pages: De La Vaissi.


P., .  et al. 0

M.; Villard

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L., .  et al. 0

D. R.";Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome).;Cell;;0092-8674;10.1016/0092-8674(95)90287-2;;The ATR-X syndrome is an X-linked disorder comprising severe psychomotor retardation

RAD54
- issue: indicating that it could be a global transcriptional regulator. In addition to its role in the ATR-X syndrome - volume: XH2 m - pages: down-regulates expression of several genes.


under exclusive licence to the International Pediatric Research Foundation, .  et al. 0

Inc.;;;;;;Place: United States PMID: 38287106

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