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2023
【1月】
Aihara Y‚ Shirota M‚ Kikuchi A‚ Katata Y‚ Abe Y‚ Niihori T‚ Funayama R‚ Nakayama K‚ Aoki Y‚ Kure S.
A novel variant in the transmembrane 4 domain of ANO3 identified in a two-year-old girl with developmental delay and tremor.
J Hum Genet. 68:51-54‚ 2023
Tatsuta N‚ Asato K‚ Anai A‚ Suzuki T‚ Sakurai K‚ Ota C‚ Arima T‚ Sugawara J‚ Yaegashi N‚ Nakai K; Japan Environment and Children's Study Group.
Timing of Maternal Smoking Cessation and Newborn Weight‚ Height‚ and Head Circumference.
Obstet Gynecol. 141:119-125‚ 2023
【2月】
Okada H‚ Irie W‚ Sugahara A‚ Nagoya Y‚ Saito M‚ Sasahara Y‚ Yoshimoto Y‚ Iwasaki F‚ Inoue M‚ Sato M‚ Ozawa M‚ Kusuki S‚ Kamizono J‚ Ishida Y‚ Suzuki R‚ Nakajima-Yamaguchi R‚ Shiwaku H.
Factors associated with employment status among mothers of survivors of childhood cancer: a cross-sectional study.
Support Care Cancer. 31:168‚ 2023
Tarui T‚ Madan N‚ Graham G‚ Kitano R‚ Akiyama S‚ Takeoka E‚ Reid S‚ Yun HJ‚ Craig A‚ Samura O‚ Grant E‚ Im K.
Comprehensive quantitative analyses of fetal magnetic resonance imaging in isolated cerebral ventriculomegaly.
Neuroimage Clin. 37:103357‚ 2023
【3月】
Takase M‚ Yamada M‚ Nakamura T‚ Nakaya N‚ Kogure M‚ Hatanaka R‚ Nakaya K‚ Chiba I‚ Kanno I‚ Nochioka K‚ Tsuchiya N‚ Hirata T‚ Hamanaka Y‚ Sugawara J‚ Kobayashi T‚ Fuse N‚ Uruno A‚ Kodama EN‚ Kuriyama S‚ Tsuji I‚ Hozawa A.
Association between lung function and hypertension and home hypertension in a Japanese population: the Tohoku Medical Megabank Community-Based Cohort Study.
J Hypertens. 41:443-452‚ 2023
Takase M‚ Nakamura T‚ Nakaya N‚ Kogure M‚ Hatanaka R‚ Nakaya K‚ Kanno I‚ Nochioka K‚ Tsuchiya N‚ Hirata T‚ Hamanaka Y‚ Sugawara J‚ Suzuki K‚ Fuse N‚ Uruno A‚ N Kodama E‚ Kuriyama S‚ Tsuji I‚ Kure S‚ Hozawa A.
Associations between the Combined Fat Mass Index and Fat-Free Mass Index with Carotid Intima-Media Thickness in a Japanese Population: The Tohoku Medical Megabank Community-Based Cohort Study.
J Atheroscler Thromb. 30:255-273‚ 2023
Sai M‚ Niizuma H‚ Yagi K‚ Nakano T‚ Katayama S‚ Himori N‚ Irie M‚ Sasahara Y.
Comprehensive genomic profiling suggested multifocal development of retinoblastoma in a single eye.
Pediatr Blood Cancer. 70(3):e30031‚ 2023
Shirota H‚ Komine K‚ Takahashi M‚ Takahashi S‚ Miyauchi E‚ Niizuma H‚ Tada H‚ Shimada M‚ Niihori T‚ Aoki Y‚ Sugiyama I‚ Kawamura M‚ Yasuda J‚ Suzuki S‚ Iwaya T‚ Saito M‚ Saito T‚ Shibata H‚ Furukawa T‚ Ishioka C.
Clinical decisions by the molecular tumor board on comprehensive genomic profiling tests in Japan: A retrospective observational study.
Cancer Med. 12:6170-6181‚ 2023
Takahashi I‚ Obara T‚ Kikuchi S‚ Kobayashi M‚ Ishikuro M‚ Murakami K‚ Ueno F‚ Noda A‚ Onuma T‚ Matsuzaki F‚ Kobayashi N‚ Hamada H‚ Iwama N‚ Saito M‚ Sugawara J‚ Tomita H‚ Kure S‚ Yaegashi N‚ Kuriyama S.
Association between maternal psychological distress and children's neurodevelopment in offspring aged 4 years in Japan: The Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study.
J Paediatr Child Health. 59:548-554‚ 2023
Wada Y‚ Totsune E‚ Mikami-Saito Y‚ Kikuchi A‚ Miyata T‚ Kure S.
A method for phenylalanine self-monitoring using phenylalanine ammonia-lyase and a pre-existing portable ammonia detection system.
Mol Genet Metab Rep. 35:100970‚ 2023
【4月】
Tanimura K‚ Nakajima M‚ Shirakawa N‚ Tao K‚ Sugiyama M‚ Watanabe Y‚ Arakawa A‚ Kikuchi M‚ Takahashi M‚ Narita Y‚ Shiotsuka M‚ Kobayashi O‚ Iwata S‚ Yoshida A‚ Abe M‚ Yamagoe S‚ Miyazaki Y‚ Ogawa C.
Surgical site infection caused by Rhizopus caespitosus after metastasectomy for osteosarcoma: First report of infection in humans.
Pediatr Blood Cancer. 70(4):e30049‚ 2023
Akiyama M‚ Akiyama T‚ Saigusa D‚ Hishinuma E‚ Matsukawa N‚ Shibata T‚ Tsuchiya H‚ Mori A‚ Fujii Y‚ Mogami Y‚ Tokorodani C‚ Kuwahara K‚ Numata-Uematsu Y‚ Inoue K‚ Kobayashi K.
Comprehensive study of metabolic changes induced by a ketogenic diet therapy using GC/MS- and LC/MS-based metabolomics.
Seizure. 107:52-59‚ 2023
【5月】
Sai M‚ Moriya K‚ Kaino A‚ Suzuki T‚ Katayama S‚ Aoki H‚ Sasahara Y.
Stage M Infantile Neuroblastoma With Involvement of Falx Cerebri: Case Report and Literature Review.
J Pediatr Hematol Oncol. 45:220-222‚ 2023
Numata-Uematasu Y‚ Wakatsuki S‚ Kobayashi-Ujiie Y‚ Sakai K‚ Ichinohe N‚ Araki T.
In vitro myelination using explant culture of dorsal root ganglia: An efficient tool for analyzing peripheral nerve differentiation and disease modeling.
PLoS One. 18(5):e0285897‚ 2023
Kobayashi T‚ Fujishima F‚ Tokodai K‚ Sato C‚ Kamei T‚ Miyake N‚ Matsumoto N‚ Kosho T.
Detailed Courses and Pathological Findings of Colonic Perforation without Diverticula in Sisters with Musculocontractural Ehlers-Danlos Syndrome Caused by Pathogenic Variant in CHST14 (mcEDS- CHST14).
Genes (Basel). 14:1079‚ 2023
Shishido Y‚ Nakamura H‚ Nakagawa T‚ Kanou S‚ Ito T‚ Kuwana S‚ Ota C.
Incidental Hyperferritinemia in Very Young Infants with Mild Symptoms of COVID-19 Disease.
Children (Basel). 10:874‚ 2023
Fukae J‚ Eguchi H‚ Wada Y‚ Fuse A‚ Chishima R‚ Nakatani M‚ Nakajima A‚ Hattori N‚ Shimo Y.
Case report: Young-onset large vessel ischemic stroke due to hyperhomocysteinemia associated with the C677T polymorphism on 5‚10-methylenetetrahydrofolate reductase and multi-vitamin deficiency.
Front Neurol. 14:1183306‚ 2023
Hara-Isono K‚ Matsubara K‚ Nakamura A‚ Sano S‚ Inoue T‚ Kawashima S‚ Fuke T‚ Yamazawa K‚ Fukami M‚ Ogata T‚ Kagami M.
Risk assessment of assisted reproductive technology and parental age at childbirth for the development of uniparental disomy-mediated imprinting disorders caused by aneuploid gametes.
Clin Epigenetics. 15:78‚ 2023
【6月】
Kawamura M‚ Shirota H‚ Niihori T‚ Komine K‚ Takahashi M‚ Takahashi S‚ Miyauchi E‚ Niizuma H‚ Kikuchi A‚ Tada H‚ Shimada M‚ Kawamorita N‚ Kanamori M‚ Sugiyama I‚ Tsubata M‚ Ichikawa H‚ Yasuda J‚ Furukawa T‚ Aoki Y‚ Ishioka C.
Management of patients with presumed germline pathogenic variant from tumor-only genomic sequencing: A retrospective analysis at a single facility.
J Hum Genet. 68:399-408‚ 2023
【7月】
Sato S‚ Watanabe S‚ Saito Y‚ Takanashi A‚ Ikeda H‚ Sakurai Y‚ Koshinami S‚ Kumagai Y‚ Usuda H‚ Hanita T‚ Kikuchi A‚ Saito M.
High Expression of Adrenal Cortisol Synthases Is Acquired After Intrauterine Inflammation in Periviable Sheep Fetuses.
J Endocr Soc. 7(9):bvad100‚ 2023
Kakisaka Y‚ Ota C‚ Kameoka JI.
Combination of Lectures for Case-report Writing and Advances in Internet Technology May Be a Possible Solution for "Encouraging Students and Trainees to Write".
JMA J. 6:360-361‚ 2023
Takahashi T‚ Fee EL‚ Takahashi Y‚ Usuda H‚ Carter SWD‚ Ikeda H‚ Saito M‚ Kumagai Y‚ Bridges JP‚ Jobe AH‚ Choolani MA‚ Kemp MW.
LPCAT1 levels in the placenta‚ the maternal plasma and the fetal plasma do not predict fetal lung responses to glucocorticoids in a sheep model of pregnancy.
Placenta. Jul:138:1-9‚ 2023
【8月】
Kaino A‚ Niizuma H‚ Katayama S‚ Irie M‚ Nakano T‚ Sato D‚ Saito T‚ Kato S‚ Suehara Y‚ Sasahara Y‚ Kikuchi A.
Two-year crizotinib monotherapy induced durable complete response of pediatric ALK-positive inflammatory myofibroblastic tumor.
Pediatr Blood Cancer. 70(8):e30330‚ 2023
Takase M‚ Yamada M‚ Nakamura T‚ Nakaya N‚ Kogure M‚ Hatanaka R‚ Nakaya K‚ Kanno I‚ Nochioka K‚ Tsuchiya N‚ Hirata T‚ Hamanaka Y‚ Sugawara J‚ Kobayashi T‚ Fuse N‚ Uruno A‚ Kodama EN‚ Kuriyama S‚ Tsuji I‚ Hozawa A.
The Association of Lung Function and Carotid Intima-Media Thickness in a Japanese Population: The Tohoku Medical Megabank Community-Based Cohort Study.
J Atheroscler Thromb. 30:1022-1044‚ 2023
Kuroda Y‚ Matsufuji M‚ Enomoto Y‚ Osaka H‚ Takanashi JI‚ Yamamoto T‚ Numata-Uematsu Y‚ Tabata K‚ Kurosawa K‚ Inoue K.
A de novo U2AF2 heterozygous variant associated with hypomyelinating leukodystrophy.
Am J Med Genet A. 191:2245-2248‚ 2023
Usuda H‚ Ikeda H‚ Watanabe S‚ Sato S‚ Fee EL‚ Carter SWD‚ Kumagai Y‚ Saito Y‚ Takahashi T‚ Takahashi Y‚ Kawamura S‚ Hanita T‚ Saito M‚ Kikuchi A‚ Choolani MA‚ Yaegashi N‚ Kemp MW.
Artificial placenta support of extremely preterm ovine fetuses at the border of viability for up to 336 hours with maintenance of systemic circulation but reduced somatic and organ growth.
Front Physiol. 14:1219185‚ 2023
【9月】
Uneoka S‚ Kobayashi T‚ Numata-Uematsu Y‚ Oikawa Y‚ Katata Y‚ Okubo Y‚ Abe Y‚ Kikuchi A‚ Takayama J‚ Tamiya G‚ Kure S‚ Saito K‚ Uematsu M.
A Case Series of Patients With MYBPC1 Gene Variants Featuring Undulating Tongue Movements as Myogenic Tremor.
Pediatr Neurol. 146:16-20‚ 2023
Chida-Nagai A‚ Masaki N‚ Maeda K‚ Sasaki K‚ Sato H‚ Muneuchi J‚ Ochiai Y‚ Murayama H‚ Tahara M‚ Shiono A‚ Shinozuka A‚ Kono F‚ Machida D‚ Toyooka S‚ Sugimoto S‚ Nakamura K‚ Akagi S‚ Kondo M‚ Kasahara S‚ Kotani Y‚ Koizumi J‚ Oda K‚ Harada M‚ Nakajima D‚ Murata A‚ Nagata H‚ Yatsunami K‚ Kobayashi T‚ Matsunaga Y‚ Inoue T‚ Yamagishi H‚ Nakagawa N‚ Ohtani K‚ Yamamoto M‚ Ito Y‚ Hokosaki T‚ Kuwahara Y‚ Masutani S‚ Nomura K‚ Wada T‚ Sawada H‚ Abiko M‚ Takahashi T‚ Ishikawa Y‚ Okada S‚ Naitoh A‚ Toda T‚ Ando T‚ Masuzawa A‚ Hoshino S‚ Kawada M‚ Nomura Y‚ Ueno K‚ Ohashi N‚ Tachibana T‚ Cao Y‚ Ueda H‚ Yanagi S‚ Koide M‚ Mitsushita N‚ Higashi K‚ Minosaki Y‚ Hayashi T‚ Okamoto T‚ Kuraishi K‚ Ehara E‚ Ishida H‚ Horigome H‚ Murakami T‚ Takei K‚ Ishii T‚ Harada G‚ Hirata Y‚ Maeda J‚ Tatebe S‚ Ota C‚ Hayabuchi Y‚ Sakazaki H‚ Sasaki T‚ Hirono K‚ Suzuki S‚ Yasuda M‚ Takeda A‚ Sawai M‚ Miyaji K‚ Kitagawa A‚ Nakai Y‚ Kakimoto N‚ Agematsu K‚ Manabe A‚ Saiki Y.
Use of the index of pulmonary vascular disease for predicting long-term outcome of pulmonary arterial hypertension associated with congenital heart disease.
Front Cardiovasc Med. 10:1212882‚ 2023
Anai A‚ Asato K‚ Tatsuta N‚ Sakurai K‚ Ota C‚ Kuriyama S‚ Sugawara J‚ Arima T‚ Yaegashi N‚ Nakai K; Japan Environment and Children’s Study Group.
Factors associated with postpartum smoking relapse at early postpartum period of Japanese women in the Japan Environmental and Children's Study.
Environ Health Prev Med. 28:56‚ 2023
Usuda H‚ Watanabe S‚ Hanita T‚ Saito M‚ Sato S‚ Ikeda H‚ Kumagai Y‚ Choolani MC‚ Kemp MW.
Artificial placenta technology: History‚ potential and perception.
Placenta. 141:10-17‚ 2023
【10月】
Takase M‚ Nakaya N‚ Nakamura T‚ Kogure M‚ Hatanaka R‚ Nakaya K‚ Chiba I‚ Kanno I‚ Nochioka K‚ Tsuchiya N‚ Hirata T‚ Hamanaka Y‚ Sugawara J‚ Kobayashi T‚ Fuse N‚ Uruno A‚ Kodama EN‚ Kuriyama S‚ Tsuji I‚ Hozawa A.
Carotid Intima Media Thickness and Risk Factor for Atherosclerosis: Tohoku Medical Megabank Community-Based Cohort Study.
J Atheroscler Thromb. 30:1471-1482‚ 2023
Okubo Y‚ Shibuya M‚ Nakamura H‚ Kawashima A‚ Kodama K‚ Endo W‚ Inui T‚ Togashi N‚ Aihara Y‚ Shirota M‚ Funayama R‚ Niihori T‚ Fujita A‚ Nakayama K‚ Aoki Y‚ Matsumoto N‚ Kure S‚ Kikuchi A‚ Haginoya K.
Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis: A case report with a novel missense variant of SCN1A.
Brain Dev. 45:505-511‚ 2023
Aoki K‚ Ota C‚ Kakisaka Y.
Exploring the efficacy of an educational approach of case-writing for remote learners: insights from a novice writer.
Rural Remote Health. 23:8527‚ 2023
Dodo M‚ Ota C‚ Ishikawa M‚ Koseki I‚ Sugawara J‚ Tatsuta N‚ Arima T‚ Yaegashi N‚ Koseki T.
Timing of Primary Tooth Eruption in Infants Observed by Their Parents.
Children (Basel). 10:1730‚ 2023
【11月】
Inoue T‚ Watabe D‚ Akasaka K‚ Sasaki T‚ Sasahara Y‚ Amano H.
Refractory atopic dermatitis in a child with hypomorphic mutation in XIAP gene and low serum IgG.
J Dermatol. 50(11):e363-e365‚ 2023
Kumagai Y‚ Kemp MW‚ Usuda H‚ Takahashi T‚ Takahashi Y‚ Hamada H‚ Schmidt AF‚ Hanita T‚ Watanabe S‚ Sato S‚ Ikeda H‚ Fee EL‚ Furfaro L‚ Newnham JP‚ Jobe AH‚ Yaegashi N‚ Saito M.
A Reduction in Antenatal Steroid Dose Was Associated with Reduced Cardiac Dysfunction in a Sheep Model of Pregnancy.
Reprod Sci. 30:3222-3234‚ 2023
Fee EL‚ Takahashi T‚ Takahashi Y‚ Carter SWD‚ Clarke MW‚ Milad MA‚ Usuda H‚ Ikeda H‚ Kumagai Y‚ Saito Y‚ Ireland DJ‚ Newnham JP‚ Saito M‚ Jobe AH‚ Kemp MW.
Respiratory benefit in preterm lambs is progressively lost when the concentration of fetal plasma betamethasone is titrated below two nanograms per milliliter.
Am J Physiol Lung Cell Mol Physiol. 325:L628-L637‚ 2023
Takahashi Y‚ Takahashi T‚ Usuda H‚ Carter S‚ Fee EL‚ Furfaro L‚ Chemtob S‚ Olson DM‚ Keelan JA‚ Kallapur S‚ Kemp MW.
Pharmacological blockade of the interleukin-1 receptor suppressed Escherichia coli lipopolysaccharide-induced neuroinflammation in preterm fetal sheep.
Am J Obstet Gynecol MFM. 5:101124‚ 2023
【12月】
Hatanaka R‚ Nakaya N‚ Kogure M‚ Nakaya K‚ Chiba I‚ Kanno I‚ Hashimoto H‚ Nakamura T‚ Nochioka K‚ Obara T‚ Hamanaka Y‚ Sugawara J‚ Kobayashi T‚ Uruno A‚ Kodama EN‚ Fuse N‚ Kuriyama S‚ Hozawa A.
The risk of withdrawal from hypertension treatment in coastal areas after the Great East Japan Earthquake: the TMM CommCohort Study.
Hypertens Res. 46:2718-2728‚ 2023
Urakawa T‚ Sano S‚ Kawashima S‚ Nakamura A‚ Shima H‚ Ohta M‚ Yamada Y‚ Nishida A‚ Narusawa H‚ Ohtsu Y‚ Matsubara K‚ Dateki S‚ Maruo Y‚ Fukami M‚ Ogata T‚ Kagami M.
(Epi)genetic and clinical characteristics in 84 patients with pseudohypoparathyroidism type 1B.
Eur J Endocrinol. 189:590-600‚ 2023
Sugeno N‚ Hasegawa T‚ Haginoya K‚ Kubota T‚ Ikeda K‚ Nakamura T‚ Ishiyama S‚ Sato K‚ Yoshida S‚ Koshimizu E‚ Uematsu M‚ Miyatake S‚ Matsumoto N‚ Aoki M.
Detection of Modified Histones from Oral Mucosa of a Patient with DYT- KMT2B Dystonia.
Mol Syndromol. 14:461-468‚ 2023
Tatebe S‚ Yasuda S‚ Konno R‚ Sakata Y‚ Sugimura K‚ Satoh K‚ Shiroto T‚ Miyata S‚ Adachi O‚ Kimura M‚ Mizuno Y‚ Enomoto J‚ Tateno S‚ Nakajima H‚ Oyama K‚ Saiki Y‚ Shimokawa H.
Clinical and Sociodemographic Factors Associated With Health-Related Quality of Life in Patients With Adult Congenital Heart Disease - A Nationwide Cross-Sectional Multicenter Study.
Circ J. 88:62-70‚ 2023
笹原洋二 (日本小児血液・がん学会学術・調査委員会 委員長)
日本小児血液・がん学会疾患登録集計報告:2017年~2021年診断例
日本小児血液・がん学会雑誌 59: p443-444‚ 2023
新田恩、村田祐二、藤原幾磨、岩澤伸哉、松尾諭志、齋木佳克
運動時の嘔吐症状から発見した右冠動脈起始異常の1例
小児内科 55:1055-1059‚ 2023
戸恒恵理子、齋藤寧子、和田陽一
慢性腎不全を合併し維持血型透析を要した急性発症型プロピオン酸血症の成人例
特殊ミルク情報 58:18-21‚ 2023
沖村聖人、岩澤伸哉、星菜美子、尾形博子、藤島史喜、大田千晴
病初期に急性心筋炎と診断された不全型川崎病の15歳女性
東北医誌 135:39-42‚ 2023
新田恩、村田祐二、藤原幾麿、岩澤伸哉、松尾諭志、齋木佳克
運動時の嘔吐症状から発見した右冠動脈起始異常の1例
小児内科 55:1055-1059‚ 2023
笹原洋二
CDC42が誘導するインフラマソームの新たな炎症誘導機構
臨床免疫・アレルギー科 79:559-563‚ 2023
秋山志津子、樽井智
Dandy-Walker奇形とその異型
周産期マニュアル:胎児疾患の診断から管理まで 101-107‚ 2023
菅原典子
急性腎不全(急性腎障害)
小児科診療:小児の治療方針 86:690-5‚ 2023
三浦健一郎、菅原典子、平野大志
小児の血尿診断で注意すべきポイント
臨床泌尿器科:どう変わった? 血尿診断の最前線 77:728-34‚ 2023
𠮷田美智子
腸チフス菌・パラチフスA菌
日常診療に役立つ 小児感染症マニュアル2023
菅野潤子
骨形成不全症
小児科診療:小児の治療方針 231-232‚ 2023
菅野潤子
内科的対応
小児外科:これならわかる性分化疾患 55:1316-1319‚ 2023
菅野潤子
月経困難症
小児内科:エキスパートが教える小児の薬物治療 55:719-722‚ 2023
笹原洋二
「小児科診療ガイドライン -最新の診療指針- 第5版」総合医学社
ITP p409-413
植松有里佳
「ミトコンドリア病診療マニュアル2023」診断と治療社
治療可能な疾患 p23-28
笹原洋二(日本免疫不全・自己炎症学会 編集)
「原発性免疫不全症候群 診療の手引き(改訂第2版)」診断と治療社
ウィスコット・オルドリッチ(Wiskott-Aldrich)症候群(WAS) p30-35
笹原洋二(日本免疫不全・自己炎症学会 編集)
「原発性免疫不全症候群 診療の手引き(改訂第2版)」診断と治療社
NFKB2欠損症 p90-95
笹原洋二(日本免疫不全・自己炎症学会 編集)
「原発性免疫不全症候群 診療の手引き(改訂第2版)」診断と治療社
腸炎を伴う免疫不全症 p125-131
笹原洋二(日本血液学会 編集)
「血液専門医テキスト(改訂第4版)」南江堂
先天性血小板減少症・機能異常症 p433-436
笹原洋二
「日本臨牀 2023年10月別冊 血液症候群(第3版)Ⅱ ~その他の血液疾患を含めて~」日本臨牀社
Wiskott-Aldrich症候群 p298-303
新妻秀剛
「クエスチョン・バンク 医師国家試験問題解説 2023-24 vol.3」メディックメディア
小児科 血液・造血器、腹部の腫瘍(監修)
菅原典子(血尿診断ガイドライン改訂委員会編集)
「血尿診断ガイドライン2023」ライフサイエンス出版
小児科領域における顕微鏡的血尿 p45-59
渡辺祐子:第65回日本小児血液・がん学会
学会ポスター賞
「全身サーベイランスと消化管ポリポーシスの徹底的な内視鏡的切除を継続しているConstitutional MisMatch Repair Deficiency (CMMRD)症候群の1例」
内田奈生
令和4年度医学部・医学系研究科教育貢献賞
川嶋明香:第96回日本内分泌学会学術総会
優秀演題賞
「GNAS遺伝子座へのレトロトランスポゾン挿入によって発症した偽性副甲状腺機能低下症1B型兄妹例」
川嶋明香
第47回 荒川記念賞
「家族性偽性副甲状腺機能低下症タイプIBとGNAS座位のSVAレトロトランスポゾン挿入は関連する」
島 彦仁:2023 国際小児内分泌学会(IMPE)
フェロースクール トラベルアワード
'A boy with craniopharyngioma who developed primary adrenal insufficiency after a craniotomy'
齋藤寧子:第64回日本先天代謝異常学会学術集会
若手優秀演題賞
'Clinical picture of galactosemia type IV by nationwide survey in Japan'
和田陽一
SSIEM travel scholarship
'A feasible point-of-care testing method for monitoring phenylalanine levels using phenylalanine ammonia lyase and a portable ammonia detection system'
和田陽一:第64回日本先天代謝異常学会学術集会
最優秀若手演題賞
'Feasible point-of-care testing method for monitoring phenylalanine levels using phenylalanine ammonia lyase and portable ammonia detection system'
小林朋子
令和5年度 文部科学大臣表彰 科学技術賞(理解増進部門)
「国民の未来型医療理解増進のためのゲノム医学普及啓発」