Works matching IS 03406717 AND DT 2022 AND VI 141 AND IP 2
Results: 10
Inactivating NHLH2 variants cause idiopathic hypogonadotropic hypogonadism and obesity in humans.
- Published in:
- Human Genetics, 2022, v. 141, n. 2, p. 295, doi. 10.1007/s00439-021-02422-9
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- Publication type:
- Article
Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant.
- Published in:
- Human Genetics, 2022, v. 141, n. 2, p. 283, doi. 10.1007/s00439-021-02416-7
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- Publication type:
- Article
Insight into ALKBH8-related intellectual developmental disability based on the first pathogenic missense variant.
- Published in:
- 2022
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- Publication type:
- Case Study
Fine human genetic map based on UK10K data set.
- Published in:
- Human Genetics, 2022, v. 141, n. 2, p. 273, doi. 10.1007/s00439-021-02415-8
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- Publication type:
- Article
Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants.
- Published in:
- Human Genetics, 2022, v. 141, n. 2, p. 177, doi. 10.1007/s00439-021-02410-z
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- Publication type:
- Article
Heat increases full-length SMN splicing: promise for splice-augmenting therapies for SMA.
- Published in:
- Human Genetics, 2022, v. 141, n. 2, p. 239, doi. 10.1007/s00439-021-02408-7
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- Publication type:
- Article
SNP characteristics and validation success in genome wide association studies.
- Published in:
- Human Genetics, 2022, v. 141, n. 2, p. 229, doi. 10.1007/s00439-021-02407-8
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- Publication type:
- Article
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.
- Published in:
- Human Genetics, 2022, v. 141, n. 2, p. 257, doi. 10.1007/s00439-021-02412-x
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- Publication type:
- Article
The potential application of organoids in breast cancer research and treatment.
- Published in:
- Human Genetics, 2022, v. 141, n. 2, p. 193, doi. 10.1007/s00439-021-02390-0
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- Publication type:
- Article
A novel complex genomic rearrangement affecting the KCNJ2 regulatory region causes a variant of Cooks syndrome.
- Published in:
- Human Genetics, 2022, v. 141, n. 2, p. 217, doi. 10.1007/s00439-021-02403-y
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- Publication type:
- Article