Found: 15
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GBF1 deficiency causes cataracts in human and mouse.
- Published in:
- Human Genetics, 2024, v. 143, n. 11, p. 1281, doi. 10.1007/s00439-024-02697-8
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- Article
A novel mutation in the GALC gene causes Krabbe disease accompanied with extensive Mongolian spots in a consanguineous family.
- Published in:
- Neurological Sciences, 2023, v. 44, n. 7, p. 2605, doi. 10.1007/s10072-023-06748-2
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- Article
A novel microdeletion upstream of HOXD13 in a Chinese family with synpolydactyly.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 31, doi. 10.1002/ajmg.a.62480
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- Article
A novel homozygous mutation in ACTL7A leads to male infertility.
- Published in:
- Molecular Genetics & Genomics, 2023, v. 298, n. 2, p. 353, doi. 10.1007/s00438-022-01985-0
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- Article
Juvenile-Onset Kufs Disease in a Chinese Consanguineous Family due to CLN6 Mutation.
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- Neurodegenerative Diseases, 2022, v. 21, n. 5/6, p. 126, doi. 10.1159/000524784
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- Article
The New Liu Cixin Literature: Science Fiction and the Third World Experience.
- Published in:
- Frontiers of Literary Studies in China, 2020, n. 2, p. 254, doi. 10.3868/s010-009-020-0012-7
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- Article
Novel mutations in ZP2 and ZP3 cause female infertility in three patients.
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- Journal of Assisted Reproduction & Genetics, 2022, v. 39, n. 5, p. 1205, doi. 10.1007/s10815-022-02466-4
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- Article
A novel mutation in ZP3 causes empty follicle syndrome and abnormal zona pellucida formation.
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- Journal of Assisted Reproduction & Genetics, 2021, v. 38, n. 1, p. 251, doi. 10.1007/s10815-020-01995-0
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- Article
PT-Informer: A Deep Learning Framework for Nuclear Steam Turbine Fault Diagnosis and Prediction.
- Published in:
- Machines, 2023, v. 11, n. 8, p. 846, doi. 10.3390/machines11080846
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- Article
A Novel Principal Component Analysis-Informer Model for Fault Prediction of Nuclear Valves.
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- Machines, 2022, v. 10, n. 4, p. N.PAG, doi. 10.3390/machines10040240
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- Article
Novel Heterozygous Mutations in ZP2 Cause Abnormal Zona Pellucida and Female Infertility.
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- Reproductive Sciences, 2022, v. 29, n. 10, p. 3047, doi. 10.1007/s43032-022-00958-3
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- Article
Novel Compound Heterozygous Mutation in FSIP2 Causes Multiple Morphological Abnormalities of the Sperm Flagella (MMAF) and Male Infertility.
- Published in:
- Reproductive Sciences, 2022, v. 29, n. 9, p. 2697, doi. 10.1007/s43032-022-00965-4
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- Publication type:
- Article
TUBB8 Mutations Cause Female Infertility with Large Polar Body Oocyte and Fertilization Failure.
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- Reproductive Sciences, 2021, v. 28, n. 10, p. 2942, doi. 10.1007/s43032-021-00633-z
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- Article
Developing students' abilities in engineering design through the teaching of mechanism and machine theory.
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- International Journal of Mechanical Engineering Education, 2013, v. 41, n. 4, p. 360, doi. 10.7227/IJMEE.41.4.11
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- Article
Study on the Dispersion of Radionuclides under Different Hydrological Conditions of Spent Fuel Shipping in Daya Bay.
- Published in:
- Science & Technology of Nuclear Installations, 2022, p. 1, doi. 10.1155/2022/7265821
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- Publication type:
- Article