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The Journal of Craniofacial Surgery
|
November 13, 2007
Traumatic unilateral temporomandibular joint dislocation overlooked for more than two decades
Mitsuko Nakashima, Hiroki Yano, Sadanori Akita, et al.
Journal of Human Genetics
|
October 10, 2014
Precise detection of chromosomal translocation or inversion breakpoints by whole-genome sequencing
Toshifumi Suzuki, Yoshinori Tsurusaki, Mitsuko Nakashima, et al.
Brain & Development
|
October 2, 2021
A novel de novo TMEM63A variant in a patient with severe hypomyelination and global developmental delay
Shinobu Fukumura, Takuya Hiraide, Akiyo Yamamoto, et al.
Human Genome Variation
|
February 19, 2022
Two novel heterozygous variants in ATP1A3 cause movement disorders
Shogo Furukawa, Sachiko Miyamoto, Shinobu Fukumura, et al.
Journal of Human Genetics
|
March 9, 2023
A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome
Takuya Hiraide, Kenji Shimizu, Yoshinori Okumura, et al.
Annals of Human Genetics
|
July 7, 2026
Utility of Urine-Derived Cells for Characterizing Aberrant Splicing Caused by a Novel Deep Intronic L1CAM Variant
Takuma Harasaki, Sachiko Miyamoto, Takahiro Yonekawa, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape
|
August 7, 2018
Biallelic loss-of-function UBA5 mutations in a patient with intractable West syndrome and profound failure to thrive
Atsuro Daida, Shin-Ichiro Hamano, Satoru Ikemoto, et al.
Brain & Development
|
November 9, 2021
Compound heterozygous ADAMTS9 variants in Joubert syndrome-related disorders without renal manifestation
Hiroko Baber Matsushita, Takuya Hiraide, Katsumi Hayakawa, et al.
Human Genome Variation
|
August 8, 2018
A recurrent homozygous <i>NHLRC1</i> variant in siblings with Lafora disease
Nami Araya, Yukitoshi Takahashi, Masayuki Shimono, et al.
Journal of Human Genetics
|
July 2, 2021
Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review
Kazuki Watanabe, Mitsuko Nakashima, Satoko Kumada, et al.
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of 21
Search research articles
Search
Showing results (31-40 of 208) with videos related to
Sort By:
Page
of 21
The Journal of Craniofacial Surgery
|
November 13, 2007
Traumatic unilateral temporomandibular joint dislocation overlooked for more than two decades
Mitsuko Nakashima, Hiroki Yano, Sadanori Akita, et al.
Journal of Human Genetics
|
October 10, 2014
Precise detection of chromosomal translocation or inversion breakpoints by whole-genome sequencing
Toshifumi Suzuki, Yoshinori Tsurusaki, Mitsuko Nakashima, et al.
Brain & Development
|
October 2, 2021
A novel de novo TMEM63A variant in a patient with severe hypomyelination and global developmental delay
Shinobu Fukumura, Takuya Hiraide, Akiyo Yamamoto, et al.
Human Genome Variation
|
February 19, 2022
Two novel heterozygous variants in ATP1A3 cause movement disorders
Shogo Furukawa, Sachiko Miyamoto, Shinobu Fukumura, et al.
Journal of Human Genetics
|
March 9, 2023
A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome
Takuya Hiraide, Kenji Shimizu, Yoshinori Okumura, et al.
Annals of Human Genetics
|
July 7, 2026
Utility of Urine-Derived Cells for Characterizing Aberrant Splicing Caused by a Novel Deep Intronic L1CAM Variant
Takuma Harasaki, Sachiko Miyamoto, Takahiro Yonekawa, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape
|
August 7, 2018
Biallelic loss-of-function UBA5 mutations in a patient with intractable West syndrome and profound failure to thrive
Atsuro Daida, Shin-Ichiro Hamano, Satoru Ikemoto, et al.
Brain & Development
|
November 9, 2021
Compound heterozygous ADAMTS9 variants in Joubert syndrome-related disorders without renal manifestation
Hiroko Baber Matsushita, Takuya Hiraide, Katsumi Hayakawa, et al.
Human Genome Variation
|
August 8, 2018
A recurrent homozygous <i>NHLRC1</i> variant in siblings with Lafora disease
Nami Araya, Yukitoshi Takahashi, Masayuki Shimono, et al.
Journal of Human Genetics
|
July 2, 2021
Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review
Kazuki Watanabe, Mitsuko Nakashima, Satoko Kumada, et al.
Page
of 21