MMG PUBLICATIONS

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Results: 4167  publications found.

Inc. on behalf of International League Against Epilepsy., .  et al. 0

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, .  et al. 0

Multiple congenital malformations arise from somatic mosaicism for constitutively active Pik3ca signaling

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Pecheux C, .  et al. 0

Villard L

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increases striatal BDNF availability and synaptic connectivity in vivo, .  et al. 0

and improves the phenotype and the survival of Mecp2 knockout mice-even though treatments were initiated only after the mice had already developed symptoms. Stimulation of endogenous cellular pathways may thus be a promising approach for the treatment of RTT patients.;07/02/2020;04/08/2025 08:04;04/08/2025 08:04;;e10889;;2;12;;EMBO Mol Med;;;;;;;;eng;© 2020 The Authors. Published under the terms of the CC BY 4.0 license.;;;;;;Place: Germany PMID: 31913581 PMCID: PMC7005633

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Paringaux C, .  et al. 0

Belougne J

Moraine C
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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;;;"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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Elisa, .  et al. 0

Angus; Ben-Zeev

Ana; Mari
Kirstine; Bosnjak - issue: Giorgio; Djuric - volume: Milena; Bisgaard - pages: Silvia; Vignoli.


Diana, .  et al. 0

Bogdan; Petrila

Alexandru-Claudiu; Pitar
Ovidiu";Synthetic aperture radar sensitivity to forest changes: A simulations-based study for the Romanian forests.;The Science of the total environment;;1879-1026 0048-9697;10.1016/j.scitotenv.2019.06.494;;Natural and anthropogenic disturbances pose a s - issue: Raducu; Popescu - volume: Flaviu; Aponte - pages: Albert; Nedea.


Castiglia L, .  et al. 0

Ragusa A

Schwartz CE
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the majority of CDKL5-mutated patients with the early-onset seizure variant, .  et al. 0

and the majority of FOXG1-mutated patients with the congenital form. A computation of severity scores further revealed significant differences between groups of patients and correlation with mutation types. The highly detailed phenotypic information contained in the Rett Networked Database a

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and forest disturbance depending on SAR wavelength and forest structure. C-band data was largely influenced by foliage volume and therefore may be useful for monitoring defoliation. Changes in water content modulated the C-band signal by <1 dB which may be insufficient for a meaningful retrieval of drought effects on forest. C-band sensitivity to significant clear-cuts was rather low (1.5 dB). More subtle effects such as selective logging or thinning may not be easily detected using C- or L-band data with the longer P-band needed for retrieving small intensity forest disturbances. Overall, .  et al. 0

the simulations emphasize that additional effort is needed to overcome current limitations arising from the use of a single frequency

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Depetris D, .  et al. 0

Mattei MG

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L., .  et al. 0

M.";Use of interspersed repetitive sequences-PCR products for cDNA selection;Mammalian Genome: Official Journal of the International Mammalian Genome Society;;0938-8990;;;In order to increase the efficiency of cDNA selection approaches

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Mancini J, .  et al. 0

Villard L. "Eur J Hum Genet. 2002 Jan;10(1):86-9. doi: 10.1038/sj.ejhg.5200761." Moncla A Eur J Hum Genet 2002 16/03/2002 10.1038/sj.ejhg.5200761

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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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