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Shima, Hirohito
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1

Hearing loss with two pathogenic SLC26A4 variants and posit..:

Miura, Akinobu ; Nakagawa, Tomohiro ; Sogi, Chisumi...
Clinical Pediatric Endocrinology.  , 2024
Link: https://doi.org/10.1297/..
 
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2

A case of long-term survival of SADDAN treated with growth ..:

Kanno, Junko ; Katata, Yu ; Kawashima, Sayaka...
Clinical Pediatric Endocrinology.  33 (2024)  3 - p. 144-150 , 2024
Link: https://doi.org/10.1297/..
 
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3

CHARGE syndrome in a child with a CHD7 variant and a novel ..:

Kamimura, Miki ; Shima, Hirohito ; Suzuki, Erina...
Clinical Pediatric Endocrinology.  , 2024
Link: https://doi.org/10.1297/..
 
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4

A case of 49,XXXYY followed-up from infancy to adulthood wi..:

Kanno, Junko ; Miura, Akinobu ; Kawashima, Sayaka...
Endocrine Journal.  71 (2024)  7 - p. 721-727 , 2024
Link: https://doi.org/10.1507/..
 
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5

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/..
 
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6

(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/..
 
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7

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/..
 
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8

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/..
 
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9

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/..
 
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10

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/..
 
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11

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/..
 
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12

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/..
 
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13

(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/..
 
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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/..
 
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15

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/..
 
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