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Brain & Development
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June 6, 2021
Head titubation and irritability as early symptoms of Joubert syndrome with a homozygous NPHP1 variant
Yoshie Sakurai, Tatsuya Watanabe, Yuki Abe, et al.
Brain & Development
|
August 1, 2021
Gait disturbance in a patient with de novo 1.0-kb SOX2 microdeletion
Hiroyuki Yamada, Tohru Okanishi, Tetsuya Okazaki, et al.
Journal of Human Genetics
|
January 29, 2021
Long-read whole-genome sequencing identified a partial MBD5 deletion in an exome-negative patient with neurodevelopmental disorder
Sachiko Ohori, Rie S Tsuburaya, Masako Kinoshita, et al.
Brain & Development
|
March 13, 2024
A female case of L1 syndrome that may have developed due to skewed X inactivation
Tatsuo Mori, Mutsuki Nakano, Takahiro Tayama, et al.
Developmental Medicine and Child Neurology
|
September 8, 2020
ATP1A3 variants and slowly progressive cerebellar ataxia without paroxysmal or episodic symptoms in children
Masayuki Sasaki, Noriko Sumitomo, Yuko Shimizu-Motohashi, et al.
Journal of Human Genetics
|
August 15, 2019
Comparison of mitochondrial DNA variants detection using short- and long-read sequencing
Ahmed N Alkanaq, Kohei Hamanaka, Futoshi Sekiguchi, et al.
Stem Cell Research
|
April 23, 2025
Generation of an induced pluripotent stem cell line (PNUYHi003-A) from peripheral blood mononuclear cells of a patient with neuronal intranuclear inclusion disease
Tae-Yun Kim, Mi Kyoung Kim, Takeshi Mizuguchi, et al.
Human Genome Variation
|
September 14, 2025
Osteogenesis imperfecta, intellectual disability and recurrent infections in a male with a pathogenic SASH3 variant
Jun Kido, Tomoyuki Mizukami, Yohei Misumi, et al.
JACC. Case Reports
|
November 28, 2025
Cardiac Involvement in a Patient With Aortic Aneurysm, Familial Thoracic-8
Kodai Sayama, Eisuke Usui, Tomohiro Tahara, et al.
Brain & Development
|
April 29, 2019
Rapid progression of a walking disability in a 5-year-old boy with a CLN6 mutation
Ayumi Matsumoto, Masako Nagashima, Kazuhiro Iwama, et al.
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of 19
Search research articles
Search
Showing results (21-30 of 185) with videos related to
Sort By:
Page
of 19
Brain & Development
|
June 6, 2021
Head titubation and irritability as early symptoms of Joubert syndrome with a homozygous NPHP1 variant
Yoshie Sakurai, Tatsuya Watanabe, Yuki Abe, et al.
Brain & Development
|
August 1, 2021
Gait disturbance in a patient with de novo 1.0-kb SOX2 microdeletion
Hiroyuki Yamada, Tohru Okanishi, Tetsuya Okazaki, et al.
Journal of Human Genetics
|
January 29, 2021
Long-read whole-genome sequencing identified a partial MBD5 deletion in an exome-negative patient with neurodevelopmental disorder
Sachiko Ohori, Rie S Tsuburaya, Masako Kinoshita, et al.
Brain & Development
|
March 13, 2024
A female case of L1 syndrome that may have developed due to skewed X inactivation
Tatsuo Mori, Mutsuki Nakano, Takahiro Tayama, et al.
Developmental Medicine and Child Neurology
|
September 8, 2020
ATP1A3 variants and slowly progressive cerebellar ataxia without paroxysmal or episodic symptoms in children
Masayuki Sasaki, Noriko Sumitomo, Yuko Shimizu-Motohashi, et al.
Journal of Human Genetics
|
August 15, 2019
Comparison of mitochondrial DNA variants detection using short- and long-read sequencing
Ahmed N Alkanaq, Kohei Hamanaka, Futoshi Sekiguchi, et al.
Stem Cell Research
|
April 23, 2025
Generation of an induced pluripotent stem cell line (PNUYHi003-A) from peripheral blood mononuclear cells of a patient with neuronal intranuclear inclusion disease
Tae-Yun Kim, Mi Kyoung Kim, Takeshi Mizuguchi, et al.
Human Genome Variation
|
September 14, 2025
Osteogenesis imperfecta, intellectual disability and recurrent infections in a male with a pathogenic SASH3 variant
Jun Kido, Tomoyuki Mizukami, Yohei Misumi, et al.
JACC. Case Reports
|
November 28, 2025
Cardiac Involvement in a Patient With Aortic Aneurysm, Familial Thoracic-8
Kodai Sayama, Eisuke Usui, Tomohiro Tahara, et al.
Brain & Development
|
April 29, 2019
Rapid progression of a walking disability in a 5-year-old boy with a CLN6 mutation
Ayumi Matsumoto, Masako Nagashima, Kazuhiro Iwama, et al.
Page
of 19