Works matching IS 09646906 AND DT 2018 AND VI 27 AND IP 20
Results: 15
Patient iPSC-derived neural stem cells exhibit phenotypes in concordance with the clinical severity of mucopolysaccharidosis I.
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- Human Molecular Genetics, 2018, v. 27, n. 20, p. 3612, doi. 10.1093/hmg/ddy259
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- Article
Subtelomeric methylation distinguishes between subtypes of Immunodeficiency, Centromeric instability and Facial anomalies syndrome.
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- Human Molecular Genetics, 2018, v. 27, n. 20, p. 3568, doi. 10.1093/hmg/ddy265
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- Article
Oligomerization of Prph2 and Rom1 is essential for photoreceptor outer segment formation.
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- Human Molecular Genetics, 2018, v. 27, n. 20, p. 3507, doi. 10.1093/hmg/ddy240
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- Article
Mice lacking the transcobalamin-vitamin B12 receptor, CD320, suffer from anemia and reproductive deficits when fed vitamin B12-deficient diet.
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- Human Molecular Genetics, 2018, v. 27, n. 20, p. 3627, doi. 10.1093/hmg/ddy267
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- Article
Metabotropic glutamate type 5 receptor requires contactin-associated protein 1 to control memory formation.
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- Human Molecular Genetics, 2018, v. 27, n. 20, p. 3528, doi. 10.1093/hmg/ddy264
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- Article
Meta-analysis of genome-wide association studies for height and body mass index in ∼700000 individuals of European ancestry.
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- Human Molecular Genetics, 2018, v. 27, n. 20, p. 3641, doi. 10.1093/hmg/ddy271
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- Article
Light modulation ameliorates expression of circadian genes and disease progression in spinal muscular atrophy mice.
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- Human Molecular Genetics, 2018, v. 27, n. 20, p. 3582, doi. 10.1093/hmg/ddy249
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- Article
Knockout of myomaker results in defective myoblast fusion, reduced muscle growth and increased adipocyte infiltration in zebrafish skeletal muscle.
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- Human Molecular Genetics, 2018, v. 27, n. 20, p. 3542, doi. 10.1093/hmg/ddy268
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- Article
ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe–4S] proteins.
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- Human Molecular Genetics, 2018, v. 27, n. 20, p. 3650, doi. 10.1093/hmg/ddy273
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- Article
An FEVR-associated mutation in ZNF408 alters the expression of genes involved in the development of vasculature.
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- Human Molecular Genetics, 2018, v. 27, n. 20, p. 3519, doi. 10.1093/hmg/ddy244
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- Article
The effect of the DISC1 Ser704Cys polymorphism on striatal dopamine synthesis capacity: an [18F]-DOPA PET study.
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- Human Molecular Genetics, 2018, v. 27, n. 20, p. 3498, doi. 10.1093/hmg/ddy242
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- Article
Dystonin-A3 upregulation is responsible for maintenance of tubulin acetylation in a less severe dystonia musculorum mouse model for hereditary sensory and autonomic neuropathy type VI.
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- Human Molecular Genetics, 2018, v. 27, n. 20, p. 3598, doi. 10.1093/hmg/ddy250
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- Article
Cone-rod homeobox CRX controls presynaptic active zone formation in photoreceptors of mammalian retina.
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- Human Molecular Genetics, 2018, v. 27, n. 20, p. 3555, doi. 10.1093/hmg/ddy272
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- Article
Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2.
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- Human Molecular Genetics, 2018, v. 27, n. 20, p. 3488, doi. 10.1093/hmg/ddy236
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- Article
Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers–Danlos syndrome.
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- Human Molecular Genetics, 2018, v. 27, n. 20, p. 3475, doi. 10.1093/hmg/ddy234
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- Article