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Noriko Miyake

Showing results (41-50 of 463) with videos related to

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The Journal of Dermatology|February 13, 2016
Dermatan 4-O-sulfotransferase 1-deficient Ehlers-Danlos syndrome complicated by a large subcutaneous hematoma on the backKosuke Mochida, Masahiro Amano, Noriko Miyake, et al.
Journal of Human Genetics|April 26, 2017
Corrigendum: Novel KCNB1 mutation associated with non-syndromic intellectual disabilityXénia Latypova, Naomichi Matsumoto, Cécile Vinceslas-Muller, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|May 11, 2011
Two novel CHN1 mutations in 2 families with Duane retraction syndromeWai-Man Chan, Noriko Miyake, Lily Zhu-Tam, et al.
Journal of Pediatric Genetics|June 30, 2022
A Novel <i>SETBP1</i> Gene Disruption by a De Novo Balanced Translocation in a Patient with Speech Impairment, Intellectual, and Behavioral DisorderIvona Vrkić Boban, Futoshi Sekiguchi, Mirela Lozić, et al.
Journal of Human Genetics|December 9, 2016
Novel KCNB1 mutation associated with non-syndromic intellectual disabilityXénia Latypova, Naomichi Matsumoto, Cécile Vinceslas-Muller, et al.
Brain & Development|June 9, 2012
Neuropathology of leukoencephalopathy with brainstem and spinal cord involvement and high lactate caused by a homozygous mutation of DARS2Sumimasa Yamashita, Noriko Miyake, Naomichi Matsumoto, et al.
Brain & Development|August 2, 2011
A girl with early-onset epileptic encephalopathy associated with microdeletion involving CDKL5Hirotomo Saitsu, Hitoshi Osaka, Kiyomi Nishiyama, et al.
Journal of Human Genetics|October 10, 2014
Precise detection of chromosomal translocation or inversion breakpoints by whole-genome sequencingToshifumi Suzuki, Yoshinori Tsurusaki, Mitsuko Nakashima, et al.
Internal Medicine (Tokyo, Japan)|March 22, 2017
Helicobacter cinaedi Bacteremia Mimicking a Flare of Systemic Lupus ErythematosusRuriko Nishida, Nobuyuki Shimono, Noriko Miyake, et al.
American Journal of Medical Genetics. Part A|September 24, 2021
Expanding the phenotypic spectrum of cardiospondylocarpofacial syndrome: From a detailed clinical and radiological observation of a boy with a novel missense variant in MAP3K7Mari Minatogawa, Noriko Miyake, Yoshinori Tsukahara, et al.
Pageof 47

Showing results (41-50 of 463) with videos related to

Sort By:
Pageof 47
The Journal of Dermatology|February 13, 2016
Dermatan 4-O-sulfotransferase 1-deficient Ehlers-Danlos syndrome complicated by a large subcutaneous hematoma on the backKosuke Mochida, Masahiro Amano, Noriko Miyake, et al.
Journal of Human Genetics|April 26, 2017
Corrigendum: Novel KCNB1 mutation associated with non-syndromic intellectual disabilityXénia Latypova, Naomichi Matsumoto, Cécile Vinceslas-Muller, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|May 11, 2011
Two novel CHN1 mutations in 2 families with Duane retraction syndromeWai-Man Chan, Noriko Miyake, Lily Zhu-Tam, et al.
Journal of Pediatric Genetics|June 30, 2022
A Novel <i>SETBP1</i> Gene Disruption by a De Novo Balanced Translocation in a Patient with Speech Impairment, Intellectual, and Behavioral DisorderIvona Vrkić Boban, Futoshi Sekiguchi, Mirela Lozić, et al.
Journal of Human Genetics|December 9, 2016
Novel KCNB1 mutation associated with non-syndromic intellectual disabilityXénia Latypova, Naomichi Matsumoto, Cécile Vinceslas-Muller, et al.
Brain & Development|June 9, 2012
Neuropathology of leukoencephalopathy with brainstem and spinal cord involvement and high lactate caused by a homozygous mutation of DARS2Sumimasa Yamashita, Noriko Miyake, Naomichi Matsumoto, et al.
Brain & Development|August 2, 2011
A girl with early-onset epileptic encephalopathy associated with microdeletion involving CDKL5Hirotomo Saitsu, Hitoshi Osaka, Kiyomi Nishiyama, et al.
Journal of Human Genetics|October 10, 2014
Precise detection of chromosomal translocation or inversion breakpoints by whole-genome sequencingToshifumi Suzuki, Yoshinori Tsurusaki, Mitsuko Nakashima, et al.
Internal Medicine (Tokyo, Japan)|March 22, 2017
Helicobacter cinaedi Bacteremia Mimicking a Flare of Systemic Lupus ErythematosusRuriko Nishida, Nobuyuki Shimono, Noriko Miyake, et al.
American Journal of Medical Genetics. Part A|September 24, 2021
Expanding the phenotypic spectrum of cardiospondylocarpofacial syndrome: From a detailed clinical and radiological observation of a boy with a novel missense variant in MAP3K7Mari Minatogawa, Noriko Miyake, Yoshinori Tsukahara, et al.
Pageof 47