Works matching IS 03406717 AND DT 2019 AND VI 138 AND IP 11/12
Results: 19
A novel homozygous RTEL1 variant in a consanguineous Lebanese family: phenotypic heterogeneity and disease anticipation.
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- Human Genetics, 2019, v. 138, n. 11/12, p. 1323, doi. 10.1007/s00439-019-02076-8
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- Article
High-throughput transcriptome analysis reveals that the loss of Pten activates a novel NKX6-1/RASGRP1 regulatory module to rescue microphthalmia caused by Fgfr2-deficient lenses.
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- Human Genetics, 2019, v. 138, n. 11/12, p. 1391, doi. 10.1007/s00439-019-02084-8
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The genetic landscape of the human solute carrier (SLC) transporter superfamily.
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- Human Genetics, 2019, v. 138, n. 11/12, p. 1359, doi. 10.1007/s00439-019-02081-x
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- Article
First genome-wide association study of non-severe malaria in two birth cohorts in Benin.
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- Human Genetics, 2019, v. 138, n. 11/12, p. 1341, doi. 10.1007/s00439-019-02079-5
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- Article
Phenome-wide association study of TTR and RBP4 genes in 361,194 individuals reveals novel insights in the genetics of hereditary and wildtype transthyretin amyloidoses.
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- Human Genetics, 2019, v. 138, n. 11/12, p. 1331, doi. 10.1007/s00439-019-02078-6
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Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD).
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- Human Genetics, 2019, v. 138, n. 11/12, p. 1409, doi. 10.1007/s00439-019-02077-7
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- Article
Mutational signatures and mutagenic impacts associated with betel quid chewing in oral squamous cell carcinoma.
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- Human Genetics, 2019, v. 138, n. 11/12, p. 1379, doi. 10.1007/s00439-019-02083-9
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- Article
Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair.
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- Human Genetics, 2019, v. 138, n. 11/12, p. 1313, doi. 10.1007/s00439-019-02075-9
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- Article
Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype.
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- Human Genetics, 2019, v. 138, n. 11/12, p. 1301, doi. 10.1007/s00439-019-02073-x
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Arteriovenous malformation associated with a HRAS mutation.
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- Human Genetics, 2019, v. 138, n. 11/12, p. 1419, doi. 10.1007/s00439-019-02072-y
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CRISPR/Cas9 facilitates genomic editing for large-scale functional studies in pluripotent stem cell cultures.
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- Human Genetics, 2019, v. 138, n. 11/12, p. 1217, doi. 10.1007/s00439-019-02071-z
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Legacy samples in Finnish biobanks: social and legal issues related to the transfer of old sample collections into biobanks.
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- Human Genetics, 2019, v. 138, n. 11/12, p. 1287, doi. 10.1007/s00439-019-02070-0
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Characterization of GJB2 cis-regulatory elements in the DFNB1 locus.
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- Human Genetics, 2019, v. 138, n. 11/12, p. 1275, doi. 10.1007/s00439-019-02068-8
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Mutant GNLY is linked to Stevens–Johnson syndrome and toxic epidermal necrolysis.
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- Human Genetics, 2019, v. 138, n. 11/12, p. 1267, doi. 10.1007/s00439-019-02066-w
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Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder.
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- Human Genetics, 2019, v. 138, n. 11/12, p. 1259, doi. 10.1007/s00439-019-02065-x
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Long-read sequencing in deciphering human genetics to a greater depth.
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- Human Genetics, 2019, v. 138, n. 11/12, p. 1201, doi. 10.1007/s00439-019-02064-y
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- Article
MDH1 deficiency is a metabolic disorder of the malate–aspartate shuttle associated with early onset severe encephalopathy.
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- Human Genetics, 2019, v. 138, n. 11/12, p. 1247, doi. 10.1007/s00439-019-02063-z
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Trust in genomic data sharing among members of the general public in the UK, USA, Canada and Australia.
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- Human Genetics, 2019, v. 138, n. 11/12, p. 1237, doi. 10.1007/s00439-019-02062-0
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- Article
Rare variants in FANCA induce premature ovarian insufficiency.
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- Human Genetics, 2019, v. 138, n. 11/12, p. 1227, doi. 10.1007/s00439-019-02059-9
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