MMG PUBLICATIONS

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Results: 4196  publications found.

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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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Charlotte Sophia, .  et al. 0

Jens; Riccardi

Laurent";Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burst.;Human mutation;;1098-1004 1059-7794;10.1002/humu.23534;;Early...
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Bo, .  et al. 0

Gunnar";Physical exercise may improve sleep quality in children and adolescents with Fontan circulation.;Cardiology in the young;;1467-1107 1047-9511;10.1017/S1047951119001136;;"OBJECTIVE: To study physical activity and sleep in Fontan patients and healthy controls before and after an endurance training program

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Martin CL, .  et al. 0

Weiss AM

Dobyns WB. "Am J Hum Genet. 2002 Apr;70(4):1003-8. doi: 10.1086/339433. Epub 2002 Jan 29." 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;;;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 may be a good candidate for o - pages: down-regulates expression of several genes.


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increased accelerometer counts during sleep and more time as wake after sleep onset during sleep time, .  et al. 0

but not controls. CONCLUSIONS: Fontan patients have prolonged latency to sleep onset compared with controls. More time in physical activities was correlated with better sleep quality for the patients. Also

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Dominique P., .  et al. 0

Gwenaël; Puechberty

Jean-Marc; Tevissen
- issue: obesity - volume: norma - pages: Chantal";The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability.;European journal of human genetics : EJHG;;1476-5438 1018-4813;10.1038/s41431-017-0018-x;;INTRODUCTION: A large nu.


Gian Paolo, .  et al. 0

Luiza L. P.; Rauch

Shifteh; Saunders
Doris A.; van der Linden - issue: Jenny C.; Telegrafi - volume: Aida; Thiffault - pages: Katharina; Syrbe.


Colleaux L, .  et al. 0

Cardoso C

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