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Human Genome Variation
|
November 23, 2019
Three brothers with a nonsense mutation in <i>KAT6A</i> caused by parental germline mosaicism
Chisei Satoh, Ryuta Maekawa, Akira Kinoshita, et al.
European Journal of Medical Genetics
|
April 13, 2024
Characteristic phenotypes of ADH5/ALDH2 deficiency during childhood
Mio Matsumoto, Momoko Oyake, Tomoyo Itonaga, et al.
Gynecologic Oncology
|
February 5, 2014
Identification of endometrioid endometrial carcinoma-associated microRNAs in tissue and plasma
Ozora Tsukamoto, Kiyonori Miura, Hiroyuki Mishima, et al.
Acta Haematologica
|
September 13, 2021
A Patient with Kabuki Syndrome Mutation Presenting with Very Severe Aplastic Anemia
Shinobu Tamura, Hideki Kosako, Yoshiaki Furuya, et al.
The Journal of Dermatology
|
September 8, 2022
Anti-desmoglein 1 antibody-positive mother and antibody-negative child with Darier's disease
Ami Kawaguchi, Mitsuhiro Matsuda, Hiroshi Koga, et al.
European Journal of Medical Genetics
|
December 28, 2020
Brothers with novel compound heterozygous mutations in COL27A1 causing dental and genital abnormalities
Chisei Satoh, Tatsuro Kondoh, Hitomi Shimizu, et al.
Human Genome Variation
|
August 3, 2017
Deep sequencing reveals variations in somatic cell mosaic mutations between monozygotic twins with discordant psychiatric disease
Yoshiro Morimoto, Shinji Ono, Akira Imamura, et al.
Journal of Human Genetics
|
May 30, 2019
Evaluation of Face2Gene using facial images of patients with congenital dysmorphic syndromes recruited in Japan
Hiroyuki Mishima, Hisato Suzuki, Michiko Doi, et al.
Journal of Human Genetics
|
May 20, 2016
A significant association between rs8067378 at 17q12 and invasive cervical cancer originally identified by a genome-wide association study in Han Chinese is replicated in a Japanese population
Kiyonori Miura, Hiroyuki Mishima, Michio Yasunami, et al.
The Plant Journal : for Cell and Molecular Biology
|
November 15, 2021
The DROL1 subunit of U5 snRNP in the spliceosome is specifically required to splice AT-AC-type introns in Arabidopsis
Takamasa Suzuki, Tomomi Shinagawa, Tomoko Niwa, et al.
Page
of 12
Search research articles
Search
Showing results (41-50 of 114) with videos related to
Sort By:
Page
of 12
Human Genome Variation
|
November 23, 2019
Three brothers with a nonsense mutation in <i>KAT6A</i> caused by parental germline mosaicism
Chisei Satoh, Ryuta Maekawa, Akira Kinoshita, et al.
European Journal of Medical Genetics
|
April 13, 2024
Characteristic phenotypes of ADH5/ALDH2 deficiency during childhood
Mio Matsumoto, Momoko Oyake, Tomoyo Itonaga, et al.
Gynecologic Oncology
|
February 5, 2014
Identification of endometrioid endometrial carcinoma-associated microRNAs in tissue and plasma
Ozora Tsukamoto, Kiyonori Miura, Hiroyuki Mishima, et al.
Acta Haematologica
|
September 13, 2021
A Patient with Kabuki Syndrome Mutation Presenting with Very Severe Aplastic Anemia
Shinobu Tamura, Hideki Kosako, Yoshiaki Furuya, et al.
The Journal of Dermatology
|
September 8, 2022
Anti-desmoglein 1 antibody-positive mother and antibody-negative child with Darier's disease
Ami Kawaguchi, Mitsuhiro Matsuda, Hiroshi Koga, et al.
European Journal of Medical Genetics
|
December 28, 2020
Brothers with novel compound heterozygous mutations in COL27A1 causing dental and genital abnormalities
Chisei Satoh, Tatsuro Kondoh, Hitomi Shimizu, et al.
Human Genome Variation
|
August 3, 2017
Deep sequencing reveals variations in somatic cell mosaic mutations between monozygotic twins with discordant psychiatric disease
Yoshiro Morimoto, Shinji Ono, Akira Imamura, et al.
Journal of Human Genetics
|
May 30, 2019
Evaluation of Face2Gene using facial images of patients with congenital dysmorphic syndromes recruited in Japan
Hiroyuki Mishima, Hisato Suzuki, Michiko Doi, et al.
Journal of Human Genetics
|
May 20, 2016
A significant association between rs8067378 at 17q12 and invasive cervical cancer originally identified by a genome-wide association study in Han Chinese is replicated in a Japanese population
Kiyonori Miura, Hiroyuki Mishima, Michio Yasunami, et al.
The Plant Journal : for Cell and Molecular Biology
|
November 15, 2021
The DROL1 subunit of U5 snRNP in the spliceosome is specifically required to splice AT-AC-type introns in Arabidopsis
Takamasa Suzuki, Tomomi Shinagawa, Tomoko Niwa, et al.
Page
of 12