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Myotonic dystrophy: tissue-specific effect of somatic CTG expansions on allele-specific DMAHP/SIX5 expression
British Library Online Contents -
PQBP-1, a novel polyglutamine tract-binding protein, inhibits transcription activation by Brn-2 and affects cell survival
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A region of human chromosome 9p required for testis development contains two genes related to known sexual regulators
British Library Online Contents -
Sialidase-mediated depletion of G~M~2 ganglioside in Tay - Sachs neuroglia cells
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T-STAR/ETOILE: a novel relative of SAM68 that interacts with an RNA-binding protein implicated in spermatogenesis
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Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL)
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Novel genetic association between the corneodesmosin (MHC S) gene and susceptibility to psoriasis
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Characterization of regions functional in the nuclear localization of the Fanconi anemia group A protein
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Large genomic duplicons map to sites of instability in the Prader - Willi/Angelman syndrome chromosome region (15q11-q13)
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Suppression of a mitochondrial tRNA gene mutation phenotype associated with changes in the nuclear background
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C-type natriuretic peptide improves growth retardation in a mouse model of cardio-facio-cutaneous syndrome
British Library Online Contents | 2018| -
Loss of CRB2 in Müller glial cells modifies a CRB1-associated retinitis pigmentosa phenotype into a Leber congenital amaurosis phenotype
British Library Online Contents | 2018| -
Inherited thrombocytopenia associated with mutation of UDP-galactose-4-epimerase (GALE)
British Library Online Contents | 2018| -
Investigating the impact of cigarette smoking behaviours on DNA methylation patterns in adolescence
British Library Online Contents | 2018| -
Bezafibrate induces autophagy and improves hepatic lipid metabolism in glycogen storage disease type Ia
British Library Online Contents | 2018| -
Loss of CRB2 in Müller glial cells modifies a CRB1-associated retinitis pigmentosa phenotype into a Leber congenital amaurosis phenotype
British Library Online Contents | 2018| -
Cordycepin activates autophagy through AMPK phosphorylation to reduce abnormalities in Machado–Joseph disease models
British Library Online Contents | 2018| -
Inositol trisphosphate receptor-mediated Ca2+ signalling stimulates mitochondrial function and gene expression in core myopathy patients
British Library Online Contents | 2018| -
Facioscapulohumeral dystrophy: activating an early embryonic transcriptional program in human skeletal muscle
British Library Online Contents | 2018| -
Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3
British Library Online Contents | 2018| -
Transcriptome analysis reveals intermittent fasting-induced genetic changes in ischemic stroke
British Library Online Contents | 2018| -
Superoxide dismutating molecules rescue the toxic effects of PINK1 and parkin loss
British Library Online Contents | 2018| -
A recurrent de novo missense mutation in UBTF causes developmental neuroregression
British Library Online Contents | 2018| -
Leber’s hereditary optic neuropathy (LHON)-associated ND5 12338T > C mutation altered the assembly and function of complex I, apoptosis and mitophagy
British Library Online Contents | 2018| -
Modulation of β-glucocerebrosidase increases α-synuclein secretion and exosome release in mouse models of Parkinson’s disease
British Library Online Contents | 2018| -
PITX2 deficiency and associated human disease: insights from the zebrafish model
British Library Online Contents | 2018| -
Loss of offspring Peg3 reduces neonatal ultrasonic vocalizations and increases maternal anxiety in wild-type mothers
British Library Online Contents | 2018| -
Meta-analysis of genome-wide association studies identifies 8 novel loci involved in shape variation of human head hair
British Library Online Contents | 2018| -
N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma
British Library Online Contents -
Epigenetic changes in preterm birth placenta suggest a role for ADAMTS genes in spontaneous preterm birth
British Library Online Contents | 2018| -
Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry
British Library Online Contents | 2018| -
C-type natriuretic peptide improves growth retardation in a mouse model of cardio-facio-cutaneous syndrome
British Library Online Contents | 2018| -
Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry
British Library Online Contents | 2018| -
Drug screening for human genetic diseases using iPSC models
British Library Online Contents | 2018| -
Physician preparedness for big genomic data: a review of genomic medicine education initiatives in the United States
British Library Online Contents | 2018| -
Big data collision: the internet of things, wearable devices and genomics in the study of neurological traits and disease
British Library Online Contents | 2018| -
The antidepressant tianeptine reverts synaptic AMPA receptor defects caused by deficiency of CDKL5
British Library Online Contents | 2018|
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