Works matching IS 09646906 AND DT 2023 AND VI 32 AND IP 7
Results: 16
Correction to: Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 7, p. 1236, doi. 10.1093/hmg/ddac294
- Publication type:
- Article
PRDM10 directs FLCN expression in a novel disorder overlapping with Birt–Hogg–Dubé syndrome and familial lipomatosis.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 7, p. 1223, doi. 10.1093/hmg/ddac288
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- Article
Postnatal neuronal Bace1 deletion impairs neuroblast and oligodendrocyte maturation.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 7, p. 1193, doi. 10.1093/hmg/ddac282
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- Article
A neurodevelopmental disorder associated with an activating de novo missense variant in ARF1.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 7, p. 1162, doi. 10.1093/hmg/ddac279
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- Article
Genome-wide identification of copy neutral loss of heterozygosity reveals its possible association with spatial positioning of chromosomes.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 7, p. 1175, doi. 10.1093/hmg/ddac278
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- Article
Commentary: towards precision medicine for uterine leiomyomas based on molecular subgroups.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 7, p. 1061, doi. 10.1093/hmg/ddac277
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- Article
A novel de novo FEM1C variant is linked to neurodevelopmental disorder with absent speech, pyramidal signs and limb ataxia.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 7, p. 1152, doi. 10.1093/hmg/ddac276
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- Article
Transcription factor FoxM1 promotes cyst growth in PKD1 mutant ADPKD.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 7, p. 1114, doi. 10.1093/hmg/ddac273
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- Publication type:
- Article
A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 7, p. 1127, doi. 10.1093/hmg/ddac272
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- Publication type:
- Article
Macrophage-mediated immune response aggravates hearing disfunction caused by the disorder of mitochondrial dynamics in cochlear hair cells.
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- Human Molecular Genetics, 2023, v. 32, n. 7, p. 1137, doi. 10.1093/hmg/ddac270
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- Article
TFIIH mutations can impact on translational fidelity of the ribosome.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 7, p. 1102, doi. 10.1093/hmg/ddac268
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- Article
A mutation in ATP11A causes autosomal-dominant auditory neuropathy type 2.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 7, p. 1083, doi. 10.1093/hmg/ddac267
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- Publication type:
- Article
Syntaxin 4 is essential for hearing in human and zebrafish.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 7, p. 1184, doi. 10.1093/hmg/ddac257
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- Publication type:
- Article
Molecular subclass of uterine fibroids predicts tumor shrinkage in response to ulipristal acetate.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 7, p. 1063, doi. 10.1093/hmg/ddac217
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- Article
Genistein improves renal disease in a mouse model of nephropathic cystinosis: a comparison study with cysteamine.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 7, p. 1090, doi. 10.1093/hmg/ddac266
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- Publication type:
- Article
Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 7, p. 1072, doi. 10.1093/hmg/ddac261
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- Publication type:
- Article