• 4285 Citations
  • 34 h-Index
1991 …2020

Research output per year

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Research Output

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Review article
2019

Medical genetics and genomic medicine in Japan

Suzuki, H., Watanabe, T., Uehara, T. & Kosaki, K., 2019 Jun, In : American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 181, 2, p. 166-169 4 p.

Research output: Contribution to journalReview article

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 Jun, In : American Journal of Medical Genetics, Part A. 179, 6, p. 896-899 4 p.

Research output: Contribution to journalReview article

Open Access
1 Citation (Scopus)
2011

Role of rare cases in deciphering the mechanisms of congenital anomalies: CHARGE syndrome research

Kosaki, K., 2011 Mar 1, In : Congenital anomalies. 51, 1, p. 12-15 4 p.

Research output: Contribution to journalReview article

7 Citations (Scopus)
2010

[Future prospect of regenerative medicine into cure of genetic diseases].

Okuno, H. & Kosaki, K., 2010 Aug, In : Nippon rinsho. Japanese journal of clinical medicine. 68 Suppl 8, p. 71-75 5 p.

Research output: Contribution to journalReview article

2006

Russell-Silver syndrome

Kosaki, K., Izumi, K. & Hasegawa, T., 2006 Sep 28, In : Nippon rinsho. Japanese journal of clinical medicine. Suppl 3, p. 436-439 4 p.

Research output: Contribution to journalReview article

Umbilical cord length in urinary tract abnormalities associated with oligohydramnios: Evidence regarding developmental pathogenesis

Izumi, K., Jones, K. L., Kosaki, K. & Benirschke, K., 2006 Sep 1, In : Fetal and Pediatric Pathology. 25, 5, p. 233-240 8 p.

Research output: Contribution to journalReview article

1 Citation (Scopus)
2005

DHPLC in clinical molecular diagnostic services

Kosaki, K., Udaka, T. & Okuyama, T., 2005 Jan 1, In : Molecular Genetics and Metabolism. 86, 1-2, p. 117-123 7 p.

Research output: Contribution to journalReview article

36 Citations (Scopus)

Molecular diagnosis of multiple malformation syndrome

Torii, C. & Kosaki, K., 2005 Dec, In : Nippon rinsho. Japanese journal of clinical medicine. 63 Suppl 12, p. 431-436 6 p.

Research output: Contribution to journalReview article

2001

Dermal hypoplasia, focal

Kosaki, K. & Yoshihashi, H., 2001, In : Ryōikibetsu shōkōgun shirīzu. 33, p. 545-547 3 p.

Research output: Contribution to journalReview article

Dwarfism (short limbed)--Peters anomaly of the eye

Kosaki, K. & Yoshihashi, H., 2001, In : Ryōikibetsu shōkōgun shirīzu. 33, p. 574-575 2 p.

Research output: Contribution to journalReview article

1 Citation (Scopus)

Jarcho-Levin syndrome

Kosaki, K., 2001, In : Ryōikibetsu shōkōgun shirīzu. 34 Pt 2, p. 681-682 2 p.

Research output: Contribution to journalReview article

Silver-Russell syndrome

Kosaki, K. & Yoshihashi, H., 2001, In : Ryōikibetsu shōkōgun shirīzu. 34 Pt 2, p. 635-637 3 p.

Research output: Contribution to journalReview article

2000

Short-limb skeletal dysplasia with immunodeficiency

Kosaki, K. & Yoshihashi, H., 2000, In : Ryōikibetsu shōkōgun shirīzu. 32, p. 324-326 3 p.

Research output: Contribution to journalReview article

1 Citation (Scopus)