PUBLICATIONS of MMG

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Résultats : 4167  publications trouvées.

S., .  et al. 0

D.; Deliyanakis

G. T.; Kerner
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Lequin MH, .  et al. 0

Accogli A

Grasshoff U
- issue: Morris-Rosendahl DJ - volume: Mancini GM. "Am J Med Genet A. 2014 Sep;164A(9):2161-71. doi: 10.1002/ajmg.a.36611. Epub 2014 May 19." Poulton CJ Am J Med Gen - pages: Verheijen FW.

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L., .  et al. 0

M.; Fontès

it seems more likely that the XNP protein is somehow involved in regulation of gene expression. Recent genetic and biochemical studies h
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Clarissa, .  et al. 0

Stephanie; Riva

Hasnaa M.; Alavi
Nebal W.; Firoozfar - issue: Lukáš; Zafar - volume: Faisal; Rana - pages: Mathilde; Tesner.

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D., .  et al. 0

J.; Gedeon

L.";"Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X;autosome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardation";Journal of Medical...
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Maedeh, .  et al. 0

Mostafa; El Fahime

Victoria; Levchenko
Varunvenkat M.; Victor - issue: Sanjukta; Challa - volume: Viveka Santhosh R.; Gowda - pages: Salehi; Jain.

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;04/08/2025 08:04;04/08/2025 08:04;;617-622;;9;6;;Mamm Genome;;;;;;;;eng;;;;;;;Place: United States PMID: 8535069

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Fallet-Bianco C, .  et al. 0

Specchio N

Baulac M
- issue: Beldjord C - volume: Villard L - pages: Soufflet C.

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M., .  et al. 0

R.; Gardiner

which is unusually high in GC c
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Elsayed, .  et al. 0

Milan; Bispo

Rami Abou; Chung
Denis L. J.; Houlden - issue: James R.; Striano - volume: Pasquale; Moreno-De-Luca - pages: Alistair T.; Gleeson.

Z., .  et al. 0

R.; Vessey

remarkably good agreement was found between the two
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Carlos, .  et al. 0

Christa Lese; Weiss

Richard J.; Dobyns
- issue: and is known as ""bilateral perisylvian polymicrogyria"" (BPP). Most cases are sporadic - volume: although several families have been observed with multiple affected members - pages: and maximal.

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we conducted knockdown experiments in neuronal cells to investigate the role of ACTL6B in ribosome biogenesis. RESULTS: Biallelic variants in ACTL6B are associated with severe-to-profound global developmental delay/intellectual disability, .  et al. 0

infantile intractable seizures

and autistic features
- issue: - volume: - pages: ACTL6B plays a crucial role in ribosome biogenesis.