Human Genome Variation最新文献_第3页

NF1 with 47,XYY mosaicism diagnosed by mandibular neurofibromas. 通过下颌神经纤维瘤诊断出 NF1 与 47,XYY 嵌合。

IF 1.5

Human Genome Variation Pub Date : 2024-05-16 DOI: 10.1038/s41439-024-00279-8

Erina Tonouchi, Kei-Ichi Morita, Yosuke Harazono, Kyoko Hoshino, Tetsuya Yoda

引用次数: 0

Characteristic craniofacial defects associated with a novel USP9X truncation mutation 与新型 USP9X 截断突变相关的特征性颅面缺陷

IF 1.5

Human Genome Variation Pub Date : 2024-05-16 DOI: 10.1038/s41439-024-00277-w

Namiki Nagata, H. Kurosaka, Kotaro Higashi, Masaya Yamaguchi, Sayuri Yamamoto, Toshihiro Inubushi, Miho Nagata, Yasuki Ishihara, Ayumi Yonei, Yohei Miyashita, Yoshihiro Asano, Norio Sakai, Y. Sakata, Shigetada Kawabata, T. Yamashiro

引用次数: 0

Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait. 一名女性早发性神经系统疾病患者体内涉及 TCEAL1 的 Xq22 缺失。

IF 1.5

Human Genome Variation Pub Date : 2024-05-15 DOI: 10.1038/s41439-024-00278-9

Keiko Shimojima Yamamoto, Yusuke Itagaki, Kazuki Tanaka, Nobuhiko Okamoto, Toshiyuki Yamamoto

引用次数: 0

Rare coinheritance of hemoglobin vancleave with severe beta-thalassemia mutation in a patient with secondary erythrocytosis 一名继发性红细胞增多症患者罕见的血红蛋白Vancleave与严重β地中海贫血突变共同遗传

IF 1.5

Human Genome Variation Pub Date : 2024-04-23 DOI: 10.1038/s41439-024-00275-y

Nur Aisyah Aziz, Nurul Hidayah Musa, Melina Mathews, Komalah Thevii Rajenderan, F. S. Abdul Hamid, S. Hassan, Syahira Lazira Omar, Wan Nurul Afiqha Binti Wan Yusoff, Melanie Ling Binti Mohd Din, Nurul Amira Jamaludin, W. R. Wan taib, E. Esa, Norafiza Mohd Yasin

引用次数: 0

Comparative evaluation of SNVs, indels, and structural variations detected with short- and long-read sequencing data 通过短长线程测序数据检测到的 SNV、嵌合体和结构变异的比较评估

IF 1.5

Human Genome Variation Pub Date : 2024-04-17 DOI: 10.1038/s41439-024-00276-x

Shunichi Kosugi, Chikashi Terao

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引用次数: 0

Pediatric hypertrophic cardiomyopathy caused by a novel TNNI3 variant. 由新型 TNNI3 变异引起的小儿肥厚型心肌病。

IF 1.5

Human Genome Variation Pub Date : 2024-03-29 DOI: 10.1038/s41439-024-00272-1

Natsuko Inagaki, Tomoya Okano, Masatake Kobayashi, Masatsune Fujii, Yoshinao Yazaki, Yasuyoshi Takei, Hisanori Kosuge, Shinji Suzuki, Takeharu Hayashi, Masahiko Kuroda, Kazuhiro Satomi

引用次数: 0

Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and intellectual disability. 家族性腺瘤性息肉病的基因组学见解：揭示一个全 APC 基因缺失和智力残疾的罕见病例。

IF 1.5

Human Genome Variation Pub Date : 2024-03-29 DOI: 10.1038/s41439-024-00270-3

Hiroki Tanabe, Masami Ijiri, Kenji Takahashi, Honoka Sasagawa, Tomomi Kamanaka, Shohei Kuroda, Hiroki Sato, Takeo Sarashina, Yusuke Mizukami, Yoshio Makita, Toshikatsu Okumura

引用次数: 0

End-stage ADPKD with a low-frequency PKD1 mosaic variant accelerated by chemoradiotherapy 低频 PKD1 马赛克变异的终末期 ADPKD 因化疗放疗而加速发展

IF 1.5

Human Genome Variation Pub Date : 2024-03-28 DOI: 10.1038/s41439-024-00273-0

Hiroaki Hanafusa, Hiroshi Yamaguchi, Naoya Morisada, Ming Juan YE, Riki Matsumoto, Hiroaki Nagase, Kandai Nozu

引用次数: 0

Ventriculosubgaleal shunt placement for hydrocephalus in osteogenesis imperfecta with novel compound heterozygous CRTAP variants 为伴有新型复合杂合CRTAP变异的成骨不全症脑积水患者实施脑室-次脑分流术

IF 1.5

Human Genome Variation Pub Date : 2024-03-28 DOI: 10.1038/s41439-024-00274-z

Shintaro Nakamura, Kyosuke Ibi, Hiroyuki Tanaka, Hirokazu Takami, Keita Okada, Nao Takasugi, Motohiro Kato, Naoto Takahashi, Takanobu Inoue

引用次数: 0

A novel splice site variant of the BBS2 gene in a patient with Bardet-Biedl syndrome. 一名巴尔德-比德尔综合征患者体内 BBS2 基因的一个新剪接位点变异。

IF 1.5

Human Genome Variation Pub Date : 2024-03-22 DOI: 10.1038/s41439-024-00269-w

Hasan Azizi, Mortaza Bonyadi, Abbas Rafat

引用次数: 0