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Congenital Anomalies
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June 22, 2018
Long-term natural history of an adult patient with distal 22q11.2 deletion from low copy repeat-D to E
Mari Matsuo, Toshiyuki Yamamoto, Kayoko Saito
Nihon Rinsho. Japanese Journal of Clinical Medicine
|
June 11, 2009
[Gene mutation and genetic counseling]
Mari Matsuo, Mari Urano, Kayoko Saito
Einstein (Sao Paulo, Brazil)
|
September 20, 2018
Latent tuberculosis infection and tuberculosis in children and adolescents
Cassia Satsuki Ishikawa, Olivia Mari Matsuo, Flavio Sarno
Frontiers in Pediatrics
|
July 25, 2022
Factors Surrounding the Healthcare Transition From Pediatric to Adult Care in 5p- Syndrome: A Survey Among Healthcare Professionals
Yuko Ishizaki, Mari Matsuo, Kayoko Saito, et al.
American Journal of Medical Genetics. Part A
|
February 14, 2006
POR R457H is a global founder mutation causing Antley-Bixler syndrome with autosomal recessive trait
Masanori Adachi, Yumi Asakura, Mari Matsuo, et al.
American Journal of Medical Genetics. Part A
|
January 5, 2011
Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6
Toshiyuki Yamamoto, Keiko Shimojima, Tsutomu Nishizawa, et al.
American Journal of Medical Genetics
|
April 5, 2002
Premature thelarche in Rubinstein-Taybi syndrome
Kenji Kurosawa, Mitsuo Masuno, Kiyoshi Imaizumi, et al.
American Journal of Medical Genetics
|
January 25, 2002
Sotos syndrome associated with a de novo balanced reciprocal translocation t(5;8)(q35;q24.1)
Kiyoshi Imaizumi, Junko Kimura, Mari Matsuo, et al.
Brain & Development
|
August 28, 2021
Epidemiological investigation of spinal muscular atrophy in Japan
Mayuri Ito, Akemi Yamauchi, Mari Urano, 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.
Page
of 3
Search research articles
Search
Showing results (1-10 of 28) with videos related to
Sort By:
Page
of 3
Congenital Anomalies
|
June 22, 2018
Long-term natural history of an adult patient with distal 22q11.2 deletion from low copy repeat-D to E
Mari Matsuo, Toshiyuki Yamamoto, Kayoko Saito
Nihon Rinsho. Japanese Journal of Clinical Medicine
|
June 11, 2009
[Gene mutation and genetic counseling]
Mari Matsuo, Mari Urano, Kayoko Saito
Einstein (Sao Paulo, Brazil)
|
September 20, 2018
Latent tuberculosis infection and tuberculosis in children and adolescents
Cassia Satsuki Ishikawa, Olivia Mari Matsuo, Flavio Sarno
Frontiers in Pediatrics
|
July 25, 2022
Factors Surrounding the Healthcare Transition From Pediatric to Adult Care in 5p- Syndrome: A Survey Among Healthcare Professionals
Yuko Ishizaki, Mari Matsuo, Kayoko Saito, et al.
American Journal of Medical Genetics. Part A
|
February 14, 2006
POR R457H is a global founder mutation causing Antley-Bixler syndrome with autosomal recessive trait
Masanori Adachi, Yumi Asakura, Mari Matsuo, et al.
American Journal of Medical Genetics. Part A
|
January 5, 2011
Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6
Toshiyuki Yamamoto, Keiko Shimojima, Tsutomu Nishizawa, et al.
American Journal of Medical Genetics
|
April 5, 2002
Premature thelarche in Rubinstein-Taybi syndrome
Kenji Kurosawa, Mitsuo Masuno, Kiyoshi Imaizumi, et al.
American Journal of Medical Genetics
|
January 25, 2002
Sotos syndrome associated with a de novo balanced reciprocal translocation t(5;8)(q35;q24.1)
Kiyoshi Imaizumi, Junko Kimura, Mari Matsuo, et al.
Brain & Development
|
August 28, 2021
Epidemiological investigation of spinal muscular atrophy in Japan
Mayuri Ito, Akemi Yamauchi, Mari Urano, 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.
Page
of 3