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Mariko Taniguchi

Showing results (61-70 of 91) with videos related to

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Journal of Human Genetics|January 8, 2016
Next-generation sequencing discloses a nonsense mutation in the dystrophin gene from long preserved dried umbilical cord and low-level somatic mosaicism in the proband motherMariko Taniguchi-Ikeda, Yasuhiro Takeshima, Tomoko Lee, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society|July 14, 2017
Evaluation of BiliCare™ transcutaneous bilirubin device in Japanese newbornsKeiji Yamana, Ichiro Morioka, Daisuke Kurokawa, et al.
Congenital Anomalies|August 2, 2003
Fukuyama-type congenital muscular dystrophy (FCMD) and alpha-dystroglycanopathyTatsushi Toda, Kazuhiro Kobayashi, Satoshi Takeda, et al.
Brain & Development|August 13, 2015
Extremely preterm infants small for gestational age are at risk for motor impairment at 3 years corrected ageTakeshi Kato, Tsurue Mandai, Sota Iwatani, et al.
Human Genetics|August 24, 2023
Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature spermTakeshi Sugimoto, Hidehito Inagaki, Tasuku Mariya, et al.
Nature|October 8, 2011
Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophyMariko Taniguchi-Ikeda, Kazuhiro Kobayashi, Motoi Kanagawa, et al.
European Journal of Human Genetics : EJHG|May 28, 2015
Somatic mosaicism and variant frequency detected by next-generation sequencing in X-linked Alport syndromeXue Jun Fu, Kandai Nozu, Hiroshi Kaito, et al.
Journal of Human Genetics|August 26, 2017
Corrigendum: Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndromeMiwako Nagasaka, Mariko Taniguchi-Ikeda, Hidehito Inagaki, et al.
Journal of Human Genetics|April 28, 2017
Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndromeMiwako Nagasaka, Mariko Taniguchi-Ikeda, Hidehito Inagaki, et al.
Nephron|November 14, 2017
Detection of a Splice Site Variant in a Patient with Glomerulopathy and Fibronectin DepositsYurika Tsuji, Kandai Nozu, Tadashi Sofue, et al.
Pageof 10

Showing results (61-70 of 91) with videos related to

Sort By:
Pageof 10
Journal of Human Genetics|January 8, 2016
Next-generation sequencing discloses a nonsense mutation in the dystrophin gene from long preserved dried umbilical cord and low-level somatic mosaicism in the proband motherMariko Taniguchi-Ikeda, Yasuhiro Takeshima, Tomoko Lee, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society|July 14, 2017
Evaluation of BiliCare™ transcutaneous bilirubin device in Japanese newbornsKeiji Yamana, Ichiro Morioka, Daisuke Kurokawa, et al.
Congenital Anomalies|August 2, 2003
Fukuyama-type congenital muscular dystrophy (FCMD) and alpha-dystroglycanopathyTatsushi Toda, Kazuhiro Kobayashi, Satoshi Takeda, et al.
Brain & Development|August 13, 2015
Extremely preterm infants small for gestational age are at risk for motor impairment at 3 years corrected ageTakeshi Kato, Tsurue Mandai, Sota Iwatani, et al.
Human Genetics|August 24, 2023
Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature spermTakeshi Sugimoto, Hidehito Inagaki, Tasuku Mariya, et al.
Nature|October 8, 2011
Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophyMariko Taniguchi-Ikeda, Kazuhiro Kobayashi, Motoi Kanagawa, et al.
European Journal of Human Genetics : EJHG|May 28, 2015
Somatic mosaicism and variant frequency detected by next-generation sequencing in X-linked Alport syndromeXue Jun Fu, Kandai Nozu, Hiroshi Kaito, et al.
Journal of Human Genetics|August 26, 2017
Corrigendum: Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndromeMiwako Nagasaka, Mariko Taniguchi-Ikeda, Hidehito Inagaki, et al.
Journal of Human Genetics|April 28, 2017
Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndromeMiwako Nagasaka, Mariko Taniguchi-Ikeda, Hidehito Inagaki, et al.
Nephron|November 14, 2017
Detection of a Splice Site Variant in a Patient with Glomerulopathy and Fibronectin DepositsYurika Tsuji, Kandai Nozu, Tadashi Sofue, et al.
Pageof 10