Works matching IS 09646906 AND DT 2018 AND VI 27 AND IP 7
Results: 17
A recurrent de novo missense mutation in UBTF causes developmental neuroregression.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 7, p. 1310, doi. 10.1093/hmg/ddy049
- Publication type:
- Article
Astrocytes: new players in progressive myoclonus epilepsy of Lafora type.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 7, p. 1290, doi. 10.1093/hmg/ddy044
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- Article
Elongator subunit 3 (ELP3) modifies ALS through tRNA modification.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 7, p. 1276, doi. 10.1093/hmg/ddy043
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- Publication type:
- Article
Differentially expressed microRNAs in the aqueous humor of patients with exfoliation glaucoma or primary open-angle glaucoma.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 7, p. 1263, doi. 10.1093/hmg/ddy040
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- Publication type:
- Article
Human cis-acting elements regulating escape from X-chromosome inactivation function in mouse.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 7, p. 1252, doi. 10.1093/hmg/ddy039
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- Publication type:
- Article
A tri-serine cluster within the topoisomerase IIα-interaction domain of the BLM helicase is required for regulating chromosome breakage in human cells.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 7, p. 1241, doi. 10.1093/hmg/ddy038
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- Publication type:
- Article
Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 7, p. 1228, doi. 10.1093/hmg/ddy037
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- Publication type:
- Article
Psychosocial adversity and socioeconomic position during childhood and epigenetic age: analysis of two prospective cohort studies.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 7, p. 1301, doi. 10.1093/hmg/ddy036
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- Publication type:
- Article
Proteomic analysis of FOXP proteins reveals interactions between cortical transcription factors associated with neurodevelopmental disorders.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 7, p. 1212, doi. 10.1093/hmg/ddy035
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- Publication type:
- Article
Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 7, p. 1196, doi. 10.1093/hmg/ddy034
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- Article
A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 7, p. 1186, doi. 10.1093/hmg/ddy033
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- Publication type:
- Article
Temporal requirement of dystroglycan glycosylation during brain development and rescue of severe cortical dysplasia via gene delivery in the fetal stage.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 7, p. 1174, doi. 10.1093/hmg/ddy032
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- Publication type:
- Article
Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 7, p. 1150, doi. 10.1093/hmg/ddy028
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- Publication type:
- Article
The integrity and organization of the human AIPL1 functional domains is critical for its role as a HSP90-dependent co-chaperone for rod PDE6.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 7, p. 1309, doi. 10.1093/hmg/ddy024
- Publication type:
- Article
CHEK1 coordinates DNA damage signaling and meiotic progression in the male germline of mice.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 7, p. 1136, doi. 10.1093/hmg/ddy022
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- Publication type:
- Article
Testicular MTHFR deficiency may explain sperm DNA hypomethylation associated with high dose folic acid supplementation.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 7, p. 1123, doi. 10.1093/hmg/ddy021
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- Publication type:
- Article
From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyria.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 7, p. 1164, doi. 10.1093/hmg/ddy030
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- Publication type:
- Article