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Journal of Human Genetics
|
July 18, 2019
Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome
Yoichiro Oda, Yuri Uchiyama, Ai Motomura, et al.
Genome Research
|
June 12, 2023
Genome-wide identification of tandem repeats associated with splicing variation across 49 tissues in humans
Kohei Hamanaka, Daisuke Yamauchi, Eriko Koshimizu, et al.
Journal of Human Genetics
|
September 17, 2021
Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features
Shinichi Kameyama, Takeshi Mizuguchi, Hiromi Fukuda, et al.
Journal of Human Genetics
|
August 8, 2008
Microarray comparative genomic hybridization analysis of 59 patients with schizophrenia
Takeshi Mizuguchi, Ryota Hashimoto, Masanari Itokawa, et al.
American Journal of Medical Genetics. Part A
|
February 12, 2009
A locus for ophthalmo-acromelic syndrome mapped to 10p11.23
Haruka Hamanoue, Andre Megarbane, Takaya Tohma, et al.
Journal of Human Genetics
|
April 1, 2016
WDR45 mutations in three male patients with West syndrome
Mitsuko Nakashima, Kyoko Takano, Yu Tsuyusaki, et al.
Stroke
|
March 21, 2023
<i>NOTCH2NLC</i> GGC Repeat Expansion in Patients With Vascular Leukoencephalopathy
Yi-Chu Liao, Cheng-Yu Wei, Fu-Pang Chang, et al.
Journal of Human Genetics
|
January 11, 2023
Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism
Rie Seyama, Yuri Uchiyama, Yosuke Kaneshi, et al.
Journal of Human Genetics
|
May 15, 2020
A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction
Masamune Sakamoto, Den Kouhei, Muzhirah Haniffa, et al.
Journal of Human Genetics
|
November 13, 2025
Biallelic variants in TNR cause neurodevelopmental disorders with variable expressivity
Atsuhiro Ozaki, Masamune Sakamoto, Satoko Kumada, et al.
Page
of 19
Search research articles
Search
Showing results (81-90 of 185) with videos related to
Sort By:
Page
of 19
Journal of Human Genetics
|
July 18, 2019
Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome
Yoichiro Oda, Yuri Uchiyama, Ai Motomura, et al.
Genome Research
|
June 12, 2023
Genome-wide identification of tandem repeats associated with splicing variation across 49 tissues in humans
Kohei Hamanaka, Daisuke Yamauchi, Eriko Koshimizu, et al.
Journal of Human Genetics
|
September 17, 2021
Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features
Shinichi Kameyama, Takeshi Mizuguchi, Hiromi Fukuda, et al.
Journal of Human Genetics
|
August 8, 2008
Microarray comparative genomic hybridization analysis of 59 patients with schizophrenia
Takeshi Mizuguchi, Ryota Hashimoto, Masanari Itokawa, et al.
American Journal of Medical Genetics. Part A
|
February 12, 2009
A locus for ophthalmo-acromelic syndrome mapped to 10p11.23
Haruka Hamanoue, Andre Megarbane, Takaya Tohma, et al.
Journal of Human Genetics
|
April 1, 2016
WDR45 mutations in three male patients with West syndrome
Mitsuko Nakashima, Kyoko Takano, Yu Tsuyusaki, et al.
Stroke
|
March 21, 2023
<i>NOTCH2NLC</i> GGC Repeat Expansion in Patients With Vascular Leukoencephalopathy
Yi-Chu Liao, Cheng-Yu Wei, Fu-Pang Chang, et al.
Journal of Human Genetics
|
January 11, 2023
Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism
Rie Seyama, Yuri Uchiyama, Yosuke Kaneshi, et al.
Journal of Human Genetics
|
May 15, 2020
A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction
Masamune Sakamoto, Den Kouhei, Muzhirah Haniffa, et al.
Journal of Human Genetics
|
November 13, 2025
Biallelic variants in TNR cause neurodevelopmental disorders with variable expressivity
Atsuhiro Ozaki, Masamune Sakamoto, Satoko Kumada, et al.
Page
of 19