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Journal of Human Genetics|February 28, 2020
Preimplantation genetic testing with HLA matching: from counseling to birth and beyondM De Rycke, A De Vos, F Belva, et al.Journal of Human Genetics|March 8, 2020
A female with typical fragile-X phenotype caused by maternal isodisomy of the entire X chromosomeJin-Kyung Kim, Ji-Eun Jeong, Jong-Moon Choi, et al.Journal of Human Genetics|January 26, 2020
Identification of new mutations in patients with hereditary spherocytosis by next-generation sequencingLi Qin, Yanbo Nie, Hong Zhang, et al.Journal of Human Genetics|July 5, 2022
Mortality and morbidity of infants with trisomy 21, weighing 1500 grams or less, in JapanHidenori Kawasaki, Takahiro Yamada, Yoshimitsu Takahashi, et al.Journal of Human Genetics|May 17, 2014
Homoplasmy of a mitochondrial 3697G>A mutation causes Leigh syndromeYutaka Negishi, Ayako Hattori, Eri Takeshita, et al.Journal of Human Genetics|June 6, 2014
A case report of two brothers with ATR-X syndrome due to low maternal frequency of somatic mosaicism for an intragenic deletion in the ATRXHiroko Shimbo, Shinsuke Ninomiya, Kenji Kurosawa, et al.Journal of Human Genetics|November 9, 2012
The history of human populations in the Japanese Archipelago inferred from genome-wide SNP data with a special reference to the Ainu and the Ryukyuan populations, Timothy Jinam, Nao Nishida, et al.Journal of Human Genetics|February 27, 2015
Genetic diversity of disease-associated loci in Turkish populationSefayet Karaca, Tomris Cesuroglu, Mehmet Karaca, et al.Journal of Human Genetics|February 27, 2015
Detection of APC mosaicism by next-generation sequencing in an FAP patientKiyoshi Yamaguchi, Mitsuhiro Komura, Rui Yamaguchi, et al.Journal of Human Genetics|April 17, 2015
Polymorphisms in DCDC2 and S100B associate with developmental dyslexiaHans Matsson, Mikael Huss, Helena Persson, et al.Pageof 351