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Journal of Inherited Metabolic Disease
|
February 5, 2019
Growth impairment in individuals with citrin deficiency
Chikahiko Numakura, Gen Tamiya, Masao Ueki, et al.
American Journal of Medical Genetics. Part A
|
January 27, 2026
Bleeding Diathesis in Hypotrichosis-Lymphedema-Telangiectasia Syndrome due to Decreased von Willebrand Factor
Miyako Kanno, Hiroko Sato, Yuta Uemura, et al.
American Journal of Medical Genetics. Part A
|
December 31, 2021
The longest reported sibling survivors of a severe form of congenital myasthenic syndrome with the ALG14 pathogenic variant
Yu Katata, Saki Uneoka, Naoya Saijyo, et al.
Annals of Neurology
|
May 25, 2005
Functional anatomy of the basal ganglia in X-linked recessive dystonia-parkinsonism
Satoshi Goto, Lillian V Lee, Edwin L Munoz, et al.
Journal of Human Genetics
|
January 28, 2022
Heterozygous calcyclin-binding protein/Siah1-interacting protein (CACYBP/SIP) gene pathogenic variant linked to a dominant family with paucity of interlobular bile duct
Miyako Kanno, Mitsuyoshi Suzuki, Ken Tanikawa, et al.
American Journal of Human Genetics
|
August 26, 2014
A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease
Gen Tamiya, Satoshi Makino, Makiko Hayashi, et al.
Hepatology (Baltimore, Md.)
|
July 31, 2008
Hepatic AdipoR2 signaling plays a protective role against progression of nonalcoholic steatohepatitis in mice
Kengo Tomita, Yuichi Oike, Toshiaki Teratani, et al.
American Journal of Human Genetics
|
February 3, 2007
Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism
Satoshi Makino, Ryuji Kaji, Satoshi Ando, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
October 2, 2019
GWAS with principal component analysis identifies a gene comprehensively controlling rice architecture
Kenji Yano, Yoichi Morinaka, Fanmiao Wang, et al.
Human Genome Variation
|
September 28, 2022
Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals
Naomi Shiga, Yumi Yamaguchi-Kabata, Saori Igeta, et al.
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of 17
Search research articles
Search
Showing results (91-100 of 169) with videos related to
Sort By:
Page
of 17
Journal of Inherited Metabolic Disease
|
February 5, 2019
Growth impairment in individuals with citrin deficiency
Chikahiko Numakura, Gen Tamiya, Masao Ueki, et al.
American Journal of Medical Genetics. Part A
|
January 27, 2026
Bleeding Diathesis in Hypotrichosis-Lymphedema-Telangiectasia Syndrome due to Decreased von Willebrand Factor
Miyako Kanno, Hiroko Sato, Yuta Uemura, et al.
American Journal of Medical Genetics. Part A
|
December 31, 2021
The longest reported sibling survivors of a severe form of congenital myasthenic syndrome with the ALG14 pathogenic variant
Yu Katata, Saki Uneoka, Naoya Saijyo, et al.
Annals of Neurology
|
May 25, 2005
Functional anatomy of the basal ganglia in X-linked recessive dystonia-parkinsonism
Satoshi Goto, Lillian V Lee, Edwin L Munoz, et al.
Journal of Human Genetics
|
January 28, 2022
Heterozygous calcyclin-binding protein/Siah1-interacting protein (CACYBP/SIP) gene pathogenic variant linked to a dominant family with paucity of interlobular bile duct
Miyako Kanno, Mitsuyoshi Suzuki, Ken Tanikawa, et al.
American Journal of Human Genetics
|
August 26, 2014
A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease
Gen Tamiya, Satoshi Makino, Makiko Hayashi, et al.
Hepatology (Baltimore, Md.)
|
July 31, 2008
Hepatic AdipoR2 signaling plays a protective role against progression of nonalcoholic steatohepatitis in mice
Kengo Tomita, Yuichi Oike, Toshiaki Teratani, et al.
American Journal of Human Genetics
|
February 3, 2007
Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism
Satoshi Makino, Ryuji Kaji, Satoshi Ando, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
October 2, 2019
GWAS with principal component analysis identifies a gene comprehensively controlling rice architecture
Kenji Yano, Yoichi Morinaka, Fanmiao Wang, et al.
Human Genome Variation
|
September 28, 2022
Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals
Naomi Shiga, Yumi Yamaguchi-Kabata, Saori Igeta, et al.
Page
of 17