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Human Genome Variation
|
September 16, 2017
Characteristics of rare and private deletions identified in phenotypically normal individuals
Keiko Shimojima, Toshiyuki Yamamoto
Journal of Pediatric Genetics
|
September 15, 2016
Growth profiles of 34 patients with Wolf-Hirschhorn syndrome
Keiko Shimojima, Toshiyuki Yamamoto
Congenital Anomalies
|
March 14, 2013
Pelizaeus-Merzbacher disease as a chromosomal disorder
Toshiyuki Yamamoto, Keiko Shimojima
Human Genome Variation
|
April 16, 2016
A novel MED12 mutation associated with non-specific X-linked intellectual disability
Toshiyuki Yamamoto, Keiko Shimojima
Congenital Anomalies
|
December 14, 2016
Possible genes responsible for developmental delay observed in patients with rare 2q23q24 microdeletion syndrome: Literature review and description of an additional patient
Keiko Shimojima, Nobuhiko Okamoto, Toshiyuki Yamamoto
Data in Brief
|
March 10, 2016
A de novo microdeletion involving PAFAH1B (LIS1) related to lissencephaly phenotype
Keiko Shimojima, Akihisa Okumura, Toshiyuki Yamamoto
Congenital Anomalies
|
April 6, 2017
A 10q21.3q22.2 microdeletion identified in a patient with severe developmental delay and multiple congenital anomalies including congenital heart defects
Keiko Shimojima, Nobuhiko Okamoto, Toshiyuki Yamamoto
American Journal of Medical Genetics. Part A
|
August 12, 2011
Marfanoid hypermobility caused by an 862 kb deletion of Xq22.3 in a patient with Sotos syndrome
Keiko Shimojima, Tohru Okanishi, Toshiyuki Yamamoto
Congenital Anomalies
|
April 23, 2015
Characteristics of 2p15-p16.1 microdeletion syndrome: Review and description of two additional patients
Keiko Shimojima, Nobuhiko Okamoto, Toshiyuki Yamamoto
American Journal of Medical Genetics. Part A
|
September 11, 2010
A de novo 22q11.22q11.23 interchromosomal tandem duplication in a boy with developmental delay, hyperactivity, and epilepsy
Keiko Shimojima, Katsumi Imai, Toshiyuki Yamamoto
Page
of 15
Search research articles
Search
Showing results (1-10 of 142) with videos related to
Sort By:
Page
of 15
Human Genome Variation
|
September 16, 2017
Characteristics of rare and private deletions identified in phenotypically normal individuals
Keiko Shimojima, Toshiyuki Yamamoto
Journal of Pediatric Genetics
|
September 15, 2016
Growth profiles of 34 patients with Wolf-Hirschhorn syndrome
Keiko Shimojima, Toshiyuki Yamamoto
Congenital Anomalies
|
March 14, 2013
Pelizaeus-Merzbacher disease as a chromosomal disorder
Toshiyuki Yamamoto, Keiko Shimojima
Human Genome Variation
|
April 16, 2016
A novel MED12 mutation associated with non-specific X-linked intellectual disability
Toshiyuki Yamamoto, Keiko Shimojima
Congenital Anomalies
|
December 14, 2016
Possible genes responsible for developmental delay observed in patients with rare 2q23q24 microdeletion syndrome: Literature review and description of an additional patient
Keiko Shimojima, Nobuhiko Okamoto, Toshiyuki Yamamoto
Data in Brief
|
March 10, 2016
A de novo microdeletion involving PAFAH1B (LIS1) related to lissencephaly phenotype
Keiko Shimojima, Akihisa Okumura, Toshiyuki Yamamoto
Congenital Anomalies
|
April 6, 2017
A 10q21.3q22.2 microdeletion identified in a patient with severe developmental delay and multiple congenital anomalies including congenital heart defects
Keiko Shimojima, Nobuhiko Okamoto, Toshiyuki Yamamoto
American Journal of Medical Genetics. Part A
|
August 12, 2011
Marfanoid hypermobility caused by an 862 kb deletion of Xq22.3 in a patient with Sotos syndrome
Keiko Shimojima, Tohru Okanishi, Toshiyuki Yamamoto
Congenital Anomalies
|
April 23, 2015
Characteristics of 2p15-p16.1 microdeletion syndrome: Review and description of two additional patients
Keiko Shimojima, Nobuhiko Okamoto, Toshiyuki Yamamoto
American Journal of Medical Genetics. Part A
|
September 11, 2010
A de novo 22q11.22q11.23 interchromosomal tandem duplication in a boy with developmental delay, hyperactivity, and epilepsy
Keiko Shimojima, Katsumi Imai, Toshiyuki Yamamoto
Page
of 15