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Human Genome Variation
|
February 23, 2017
A 7q31.33q32.1 microdeletion including <i>LRRC4</i> and <i>GRM8</i> is associated with severe intellectual disability and characteristics of autism
Noriko Sangu, Keiko Shimojima, Yuya Takahashi, et al.
Brain & Development
|
January 9, 2017
Aspartylglucosaminuria caused by a novel homozygous mutation in the AGA gene was identified by an exome-first approach in a patient from Japan
Toshiyuki Yamamoto, Keiko Shimojima, Mayumi Matsufuji, et al.
Internal Medicine (Tokyo, Japan)
|
June 1, 2022
A Novel SPTA1 Mutation in a Patient with Hereditary Spherocytosis without a Family History and Coexisting Gilbert's Syndrome
Yuma Nato, Yuki Kageyama, Kazutaka Suzuki, et al.
Journal of Human Genetics
|
August 9, 2024
Reciprocal chromosome translocation t(3;4)(q27;q31.2) with deletion of 3q27 and reduced FBXW7 expression in a patient with developmental delay, hypotonia, and seizures
Takeaki Tamura, Keiko Shimojima Yamamoto, Jun Tohyama, et al.
Congenital Anomalies
|
July 25, 2015
Use of targeted next-generation sequencing for molecular diagnosis of craniosynostosis: Identification of a novel de novo mutation of EFNB1
Toshiyuki Yamamoto, Naru Igarashi, Keiko Shimojima, et al.
Intractable & Rare Diseases Research
|
June 6, 2017
A novel <i>PGK1</i> mutation associated with neurological dysfunction and the absence of episodes of hemolytic anemia or myoglobinuria
Shigeto Matsumaru, Hirokazu Oguni, Hiromi Ogura, et al.
Brain & Development
|
September 20, 2015
Loss-of-function mutations of STXBP1 in patients with epileptic encephalopathy
Toshiyuki Yamamoto, Keiko Shimojima, Tamami Yano, et al.
American Journal of Medical Genetics. Part A
|
April 9, 2009
Vertebral fusion in a patient with supernumerary-der(22)t(11;22) syndrome
Mitsuo Toyoshima, Chihiro Yonee, Yoshihiro Maegaki, et al.
Molecular Cytogenetics
|
April 5, 2013
De novo triplication of 11q12.3 in a patient with developmental delay and distinctive facial features
Toshiyuki Yamamoto, Mari Matsuo, Shino Shimada, et al.
Epilepsia
|
June 23, 2011
Refractory neonatal epilepsy with a de novo duplication of chromosome 2q24.2q24.3
Akihisa Okumura, Toshiyuki Yamamoto, Keiko Shimojima, et al.
Page
of 15
Search research articles
Search
Showing results (51-60 of 142) with videos related to
Sort By:
Page
of 15
Human Genome Variation
|
February 23, 2017
A 7q31.33q32.1 microdeletion including <i>LRRC4</i> and <i>GRM8</i> is associated with severe intellectual disability and characteristics of autism
Noriko Sangu, Keiko Shimojima, Yuya Takahashi, et al.
Brain & Development
|
January 9, 2017
Aspartylglucosaminuria caused by a novel homozygous mutation in the AGA gene was identified by an exome-first approach in a patient from Japan
Toshiyuki Yamamoto, Keiko Shimojima, Mayumi Matsufuji, et al.
Internal Medicine (Tokyo, Japan)
|
June 1, 2022
A Novel SPTA1 Mutation in a Patient with Hereditary Spherocytosis without a Family History and Coexisting Gilbert's Syndrome
Yuma Nato, Yuki Kageyama, Kazutaka Suzuki, et al.
Journal of Human Genetics
|
August 9, 2024
Reciprocal chromosome translocation t(3;4)(q27;q31.2) with deletion of 3q27 and reduced FBXW7 expression in a patient with developmental delay, hypotonia, and seizures
Takeaki Tamura, Keiko Shimojima Yamamoto, Jun Tohyama, et al.
Congenital Anomalies
|
July 25, 2015
Use of targeted next-generation sequencing for molecular diagnosis of craniosynostosis: Identification of a novel de novo mutation of EFNB1
Toshiyuki Yamamoto, Naru Igarashi, Keiko Shimojima, et al.
Intractable & Rare Diseases Research
|
June 6, 2017
A novel <i>PGK1</i> mutation associated with neurological dysfunction and the absence of episodes of hemolytic anemia or myoglobinuria
Shigeto Matsumaru, Hirokazu Oguni, Hiromi Ogura, et al.
Brain & Development
|
September 20, 2015
Loss-of-function mutations of STXBP1 in patients with epileptic encephalopathy
Toshiyuki Yamamoto, Keiko Shimojima, Tamami Yano, et al.
American Journal of Medical Genetics. Part A
|
April 9, 2009
Vertebral fusion in a patient with supernumerary-der(22)t(11;22) syndrome
Mitsuo Toyoshima, Chihiro Yonee, Yoshihiro Maegaki, et al.
Molecular Cytogenetics
|
April 5, 2013
De novo triplication of 11q12.3 in a patient with developmental delay and distinctive facial features
Toshiyuki Yamamoto, Mari Matsuo, Shino Shimada, et al.
Epilepsia
|
June 23, 2011
Refractory neonatal epilepsy with a de novo duplication of chromosome 2q24.2q24.3
Akihisa Okumura, Toshiyuki Yamamoto, Keiko Shimojima, et al.
Page
of 15