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Shima, Hirohito
52
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Online (52)
Mediatypes
Articles (Online) (30)
OpenAccess-fulltext (22)
Sorted by: Relevance
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1
Functional variants in a TTTG microsatellite on 15q26.1 cau..:
Narumi, Satoshi
;
Nagasaki, Keisuke
;
Kiriya, Mitsuo
...
Nature Genetics. 56 (2024) 5 - p. 869-876 , 2024
Link:
https://doi.org/10.1038/..
?
2
A case of 49,XXXYY followed-up from infancy to adulthood wi..:
Kanno, Junko
;
Miura, Akinobu
;
Kawashima, Sayaka
...
Endocrine Journal. , 2024
Link:
https://doi.org/10.1507/..
?
3
A case of long-term survival of SADDAN treated with growth ..:
Kanno, Junko
;
Katata, Yu
;
Kawashima, Sayaka
...
Clinical Pediatric Endocrinology. , 2024
Link:
https://doi.org/10.1297/..
?
4
(Epi)genetic and clinical characteristics in 84 patients wi..:
Urakawa, Tatsuki
;
Sano, Shinichiro
;
Kawashima, Sayaka
...
European Journal of Endocrinology. 189 (2023) 6 - p. 590-600 , 2023
Link:
https://doi.org/10.1093/..
?
5
SOX10 Mutation Screening for 117 Patients with Kallmann Syn..:
Shima, Hirohito
;
Tokuhiro, Etsuro
;
Okamoto, Shingo
...
Journal of the Endocrine Society. 5 (2021) 7 - p. , 2021
Link:
https://doi.org/10.1210/..
?
6
Clinical and Immunological Analyses of Ten Patients with MI..:
Mitsui-Sekinaka, Kanako
;
Narumi, Satoshi
;
Sekinaka, Yujin
...
Journal of Clinical Immunology. 41 (2021) 3 - p. 709-711 , 2021
Link:
https://doi.org/10.1007/..
?
7
WDR11 is another causative gene for coloboma, cardiac anoma..:
Sutani, Akito
;
Shima, Hirohito
;
Hijikata, Atsushi
...
European Journal of Medical Genetics. 63 (2020) 1 - p. 103626 , 2020
Link:
https://doi.org/10.1016/..
?
8
Prevalence of germlineGATA2andSAMD9/9Lvariants in paediatri..:
Yoshida, Masanori
;
Tanase‐Nakao, Kanako
;
Shima, Hirohito
...
British Journal of Haematology. 191 (2020) 5 - p. 835-843 , 2020
Link:
https://doi.org/10.1111/..
?
9
SHOX far‐downstream copy‐number variations involving cis‐re..:
Ogushi, Kenichiro
;
Muroya, Koji
;
Shima, Hirohito
...
American Journal of Medical Genetics Part A. 179 (2019) 9 - p. 1778-1782 , 2019
Link:
https://doi.org/10.1002/..
?
10
MIRAGE syndrome with recurrent pneumonia probably associate..:
Yoshizaki, Kanako
;
Hachiya, Rumi
;
Tomobe, Yutaro
...
Clinical Pediatric Endocrinology. 28 (2019) 4 - p. 147-153 , 2019
Link:
https://doi.org/10.1297/..
?
11
(Epi)genetic defects of MKRN3 are rare in Asian patients wi..:
Suzuki, Erina
;
Shima, Hirohito
;
Kagami, Masayo
...
Human Genome Variation. 6 (2019) 1 - p. , 2019
Link:
https://doi.org/10.1038/..
?
12
MIRAGE syndrome is a rare cause of 46,XY DSD born SGA witho..:
Shima, Hirohito
;
Hayashi, Mie
;
Tachibana, Takashi
...
PLOS ONE. 13 (2018) 11 - p. e0206184 , 2018
Link:
https://doi.org/10.1371/..
?
13
Poor outcome with hematopoietic stem cell transplantation f..:
Sarthy, Jay
;
Zha, Ji
;
Babushok, Daria
...
Blood Advances. 2 (2018) 2 - p. 120-125 , 2018
Link:
https://doi.org/10.1182/..
?
14
An unclassified variant of CHD7 activates a cryptic splice ..:
Katoh-Fukui, Yuko
;
Yatsuga, Shuichi
;
Shima, Hirohito
...
Human Genome Variation. 5 (2018) 1 - p. , 2018
Link:
https://doi.org/10.1038/..
?
15
A novel SAMD9 mutation causing MIRAGE syndrome: An expansio..:
Jeffries, Lauren
;
Shima, Hirohito
;
Ji, Weizhen
...
American Journal of Medical Genetics Part A. 176 (2017) 2 - p. 415-420 , 2017
Link:
https://doi.org/10.1002/..
1-15