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Fingerprint Dive into the research topics where Mamiko Yamada is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 4 Similar Profiles
Anesthesia Recovery Period Medicine & Life Sciences
Orofaciodigital Syndromes Medicine & Life Sciences
Ventilator Weaning Medicine & Life Sciences
Exome Medicine & Life Sciences
Lung Volume Measurements Medicine & Life Sciences
Haploinsufficiency Medicine & Life Sciences
Autoimmune Hepatitis Medicine & Life Sciences
Blood Gas Analysis Medicine & Life Sciences

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Research Output 1990 2019

  • 4 Citations
  • 1 h-Index
  • 4 Article
  • 2 Letter
  • 1 Review article

CNOT2 haploinsufficiency causes a neurodevelopmental disorder with characteristic facial features

Uehara, T., Tsuchihashi, T., Yamada, M., Suzuki, H., Takenouchi, T. & Kosaki, K., 2019 Jan 1, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalLetter

Haploinsufficiency
Neurodevelopmental Disorders
Open Access
Exome
Transcriptome
Genes
RNA Splice Sites
Frameshift Mutation

IFT172 as the 19th gene causative of oral-facial-digital syndrome

Yamada, M., Uehara, T., Suzuki, H., Takenouchi, T., Fukushima, H., Morisada, N., Tominaga, K., Onoda, M. & Kosaki, K., 2019 Jan 1, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalLetter

Orofaciodigital Syndromes
Genes
1 Citation (Scopus)

SATB2-associated syndrome in patients from Japan: Linguistic profiles

Yamada, M., Uehara, T., Suzuki, H., Takenouchi, T., Yoshihashi, H., Suzumura, H., Mizuno, S. & Kosaki, K., 2019 Jan 1, In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalReview article

Open Access
Linguistics
Japan
Cleft Palate
Diastema
DiGeorge Syndrome
1 Citation (Scopus)

Histological changes in autoimmune hepatitis with graves’ disease: A child case report

Yamada, M., Shibata, H., Masugi, Y., Ishi, T., Kameyama, K., Ebinuma, H. & Hasegawa, T., 2017, In : Internal Medicine. 56, 16, p. 2139-2143 5 p.

Research output: Contribution to journalArticle

Autoimmune Hepatitis
Graves Disease
Biopsy
Transaminases
Hepatitis