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The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association
|
February 1, 2017
A Family with Craniofrontonasal Syndrome: The First Report of Familial Cases of Craniofrontonasal Syndrome with Bilateral Cleft Lip and Palate
Yoshikazu Inoue, Yoshiaki Sakamoto, Masanori Sugimoto, et al.
International Journal of Cardiology
|
July 2, 2019
Corrigendum to "Frequent intragenic microdeletions of elastin in familial supravalvular aortic stenosis." [Int. J. Cardiol., 274 (2019) 290-295]
Satoshi Hayano, Yusuke Okuno, Makiko Tsutsumi, et al.
Human Mutation
|
August 24, 2005
Palindromic AT-rich repeat in the NF1 gene is hypervariable in humans and evolutionarily conserved in primates
Hidehito Inagaki, Tamae Ohye, Hiroshi Kogo, et al.
Human Genome Variation
|
February 11, 2022
Genotype-phenotype correlation of renal lesions in the tuberous sclerosis complex
Yoshinari Muto, Hitomi Sasaki, Makoto Sumitomo, et al.
American Journal of Medical Genetics. Part A
|
January 19, 2016
A unique TBX5 microdeletion with microinsertion detected in patient with Holt-Oram syndrome
Mikio Morine, Tomohiro Kohmoto, Kiyoshi Masuda, et al.
Cytogenetic and Genome Research
|
October 27, 2017
Genomic Characterization of Chromosomal Insertions: Insights into the Mechanisms Underlying Chromothripsis
Takema Kato, Yuya Ouchi, Hidehito Inagaki, et al.
Human Genome Variation
|
January 6, 2025
A novel UBA1 gene mutation in a patient with infantile respiratory distress syndrome
Masafumi Miyata, Arisa Kojima, Yuri Kawai, et al.
Molecular Cytogenetics
|
September 9, 2011
DNA secondary structure is influenced by genetic variation and alters susceptibility to de novo translocation
Takema Kato, Hidehito Inagaki, Maoqing Tong, et al.
Neurology. Genetics
|
May 17, 2017
Intragenic <i>DOK7</i> deletion detected by whole-genome sequencing in congenital myasthenic syndromes
Yoshiteru Azuma, Ana Töpf, Teresinha Evangelista, et al.
Human Molecular Genetics
|
November 25, 2022
Antisense oligonucleotide induced pseudoexon skipping and restoration of functional protein for Fukuyama muscular dystrophy caused by a deep-intronic variant
Sarantuya Enkhjargal, Kana Sugahara, Behnoush Khaledian, et al.
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Search research articles
Search
Showing results (41-50 of 98) with videos related to
Sort By:
Page
of 10
The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association
|
February 1, 2017
A Family with Craniofrontonasal Syndrome: The First Report of Familial Cases of Craniofrontonasal Syndrome with Bilateral Cleft Lip and Palate
Yoshikazu Inoue, Yoshiaki Sakamoto, Masanori Sugimoto, et al.
International Journal of Cardiology
|
July 2, 2019
Corrigendum to "Frequent intragenic microdeletions of elastin in familial supravalvular aortic stenosis." [Int. J. Cardiol., 274 (2019) 290-295]
Satoshi Hayano, Yusuke Okuno, Makiko Tsutsumi, et al.
Human Mutation
|
August 24, 2005
Palindromic AT-rich repeat in the NF1 gene is hypervariable in humans and evolutionarily conserved in primates
Hidehito Inagaki, Tamae Ohye, Hiroshi Kogo, et al.
Human Genome Variation
|
February 11, 2022
Genotype-phenotype correlation of renal lesions in the tuberous sclerosis complex
Yoshinari Muto, Hitomi Sasaki, Makoto Sumitomo, et al.
American Journal of Medical Genetics. Part A
|
January 19, 2016
A unique TBX5 microdeletion with microinsertion detected in patient with Holt-Oram syndrome
Mikio Morine, Tomohiro Kohmoto, Kiyoshi Masuda, et al.
Cytogenetic and Genome Research
|
October 27, 2017
Genomic Characterization of Chromosomal Insertions: Insights into the Mechanisms Underlying Chromothripsis
Takema Kato, Yuya Ouchi, Hidehito Inagaki, et al.
Human Genome Variation
|
January 6, 2025
A novel UBA1 gene mutation in a patient with infantile respiratory distress syndrome
Masafumi Miyata, Arisa Kojima, Yuri Kawai, et al.
Molecular Cytogenetics
|
September 9, 2011
DNA secondary structure is influenced by genetic variation and alters susceptibility to de novo translocation
Takema Kato, Hidehito Inagaki, Maoqing Tong, et al.
Neurology. Genetics
|
May 17, 2017
Intragenic <i>DOK7</i> deletion detected by whole-genome sequencing in congenital myasthenic syndromes
Yoshiteru Azuma, Ana Töpf, Teresinha Evangelista, et al.
Human Molecular Genetics
|
November 25, 2022
Antisense oligonucleotide induced pseudoexon skipping and restoration of functional protein for Fukuyama muscular dystrophy caused by a deep-intronic variant
Sarantuya Enkhjargal, Kana Sugahara, Behnoush Khaledian, et al.
Page
of 10