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Journal of Human Genetics|November 5, 2024
Homozygous synonymous FAM111A variant underlies an autosomal recessive form of Kenny-Caffey syndromeLoisa Dana Bonde, Ibrahim M Abdelrazek, Lara Seif, et al.Journal of Human Genetics|October 29, 2024
First description of novel compound heterozygous mutations in HYCC1: clinical evaluations and molecular analysis in patient with hypomyelinating leukodystrophy-5 with retrospective viewAbir Ben Issa, Fatma Kamoun, Boudour Khabou, et al.Journal of Human Genetics|November 24, 2024
Preimplantation genetic testing for inborn errors of metabolism: observations from a reproductive genetic laboratory in ChinaXiaoli Li, Qiuxiang Huang, Fuchun Zhong, et al.Journal of Human Genetics|October 16, 2024
Biallelic missense CEP55 variants cause prenatal MARCH syndromeLi Fu, Yuka Yamamoto, Rie Seyama, et al.Journal of Human Genetics|August 9, 2024
Reciprocal chromosome translocation t(3;4)(q27;q31.2) with deletion of 3q27 and reduced FBXW7 expression in a patient with developmental delay, hypotonia, and seizuresTakeaki Tamura, Keiko Shimojima Yamamoto, Jun Tohyama, et al.Journal of Human Genetics|July 31, 2024
A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasiaTess Holling, Ibrahim M Abdelrazek, Ghada M Elhady, et al.Journal of Human Genetics|August 28, 2024
Investigating common mutations in ATP7B gene and the prevalence of Wilson's disease in the Thai population using population-based genome-wide datasetsParavee Own-Eium, Donniphat Dejsuphong, Prin Vathesatogkit, et al.Journal of Human Genetics|August 15, 2024
The genetic architecture of age at menarche and its causal effects on other traitsGui-Juan Feng, Qian Xu, Qi-Gang Zhao, et al.Journal of Human Genetics|August 20, 2024
Hydrops fetalis due to loss of function of hNav1.4 channel via compound heterozygous variantsTomoya Kubota, Miho Nagata, Kazuko Takagi, et al.Journal of Human Genetics|June 20, 2024
A novel homozygous variant of the PIGK gene caused by paternal disomy in a patient with neurodevelopmental disorder, cerebellar atrophy, and seizuresKenichiro Sadamitsu, Kumiko Yanagi, Yuiko Hasegawa, et al.Pageof 351