MMG PUBLICATIONS

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Results: 4167  publications found.

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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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 that chromosomal region and t.

the phenotype was clinically relevant with regard to the literature, .  et al. 0

which prompted to sequence the second allele

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hypotonia, .  et al. 0

functional gastrointestinal abnormalities

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Haymowicz M, .  et al. 0

Welborn R

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L., .  et al. 0

M.; Kinnon

and DXS1002
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