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Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study
Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study
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Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study

Berglund, Agnethe ; Viuff, Mette Hansen ; Skakkebæk, Anne ; Chang, Simon ; Stochholm, Kirstine ; Gravholt, Claus Højbjerg

Orphanet journal of rare diseases, 2019-01, Vol.14 (1), p.16-16, Article 16 [Periódico revisado por pares]

England: BioMed Central Ltd

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2
Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders
Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders
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Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders

Oetjens, M T ; Kelly, M A ; Sturm, A C ; Martin, C L ; Ledbetter, D H

Nature communications, 2019-10, Vol.10 (1), p.4897-10, Article 4897 [Periódico revisado por pares]

England: Nature Publishing Group

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3
Cell-free DNA screening for sex chromosomal aneuploidies in 9985 pregnancies: Italian single experience
Cell-free DNA screening for sex chromosomal aneuploidies in 9985 pregnancies: Italian single experience
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Cell-free DNA screening for sex chromosomal aneuploidies in 9985 pregnancies: Italian single experience

Margiotti, Katia ; Cesta, Anthony ; Dello Russo, Claudio ; Cima, Antonella ; Barone, Maria Antonietta ; Viola, Antonella ; Sparacino, Davide ; Mesoraca, Alvaro ; Giorlandino, Claudio

BMC research notes, 2020-03, Vol.13 (1), p.167-167, Article 167 [Periódico revisado por pares]

England: BioMed Central Ltd

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4
A patient with Turner syndrome received the percutaneous vertebroplasty seven times: a case report and literature review
A patient with Turner syndrome received the percutaneous vertebroplasty seven times: a case report and literature review
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A patient with Turner syndrome received the percutaneous vertebroplasty seven times: a case report and literature review

Li, Longyu ; Shi, Yifang ; Zhao, Nan ; Liu, Zhengpei ; Zhao, Zhe ; Song, Zongmian ; Zheng, Sailei ; Yan, Miaoheng ; Leng, Zikuan ; Chen, Songfeng ; Shang, Guowei ; Kou, Hongwei ; Liu, Hongjian

European journal of medical research, 2021-12, Vol.26 (1), p.139-139, Article 139 [Periódico revisado por pares]

England: BioMed Central Ltd

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5
Generalized epilepsy in a patient with mosaic Turner syndrome: a case report
Generalized epilepsy in a patient with mosaic Turner syndrome: a case report
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Generalized epilepsy in a patient with mosaic Turner syndrome: a case report

Jhang, Kai-Ming ; Chang, Tung-Ming ; Chen, Ming ; Liu, Chin-San

Journal of medical case reports, 2014-04, Vol.8 (1), p.109-109, Article 109 [Periódico revisado por pares]

England: BioMed Central Ltd

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6
Utility and Feasibility of Teleophthalmology Using a Smartphone-Based Ophthalmic Camera in Screening Camps in Nepal
Utility and Feasibility of Teleophthalmology Using a Smartphone-Based Ophthalmic Camera in Screening Camps in Nepal
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Utility and Feasibility of Teleophthalmology Using a Smartphone-Based Ophthalmic Camera in Screening Camps in Nepal

Collon, Sean ; Chang, David ; Tabin, Geoffrey ; Hong, Karen ; Myung, David ; Thapa, Suman

Asia-Pacific journal of ophthalmology (Philadelphia, Pa.), 2020-01, Vol.9 (1), p.54-58 [Periódico revisado por pares]

United States: Department of Ophthalmology & Visual Sciences, The Chinese University of Hong Kong

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7
Identification of two novel NPM1 mutations in patients with acute myeloid leukemia
Identification of two novel NPM1 mutations in patients with acute myeloid leukemia
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Identification of two novel NPM1 mutations in patients with acute myeloid leukemia

Jeon, Yongbum ; Seo, Sang Won ; Park, Seonyang ; Park, Seungman ; Kim, So Yeon ; Ra, Eun Kyung ; Park, Sung Sup ; Seong, Moon-Woo

Annals of Laboratory Medicine, 2013, 33(1), , pp.60-64 [Periódico revisado por pares]

Korea (South): The Korean Society for Laboratory Medicine

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8
Gravity-dependent Opacity in Pure Influenza Viral Pneumonia
Gravity-dependent Opacity in Pure Influenza Viral Pneumonia
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Gravity-dependent Opacity in Pure Influenza Viral Pneumonia

Fujita, Jiro ; Haranaga, Shusaku ; Higa, Futoshi ; Hokama, Akira

Internal Medicine, 2013, Vol.52(3), pp.411-412 [Periódico revisado por pares]

Japan: The Japanese Society of Internal Medicine

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9
Long-Term Zinc Supplementation Improves Liver Function and Decreases the Risk of Developing Hepatocellular Carcinoma
Long-Term Zinc Supplementation Improves Liver Function and Decreases the Risk of Developing Hepatocellular Carcinoma
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Long-Term Zinc Supplementation Improves Liver Function and Decreases the Risk of Developing Hepatocellular Carcinoma

Hosui, Atsushi ; Kimura, Eiji ; Abe, Sumiko ; Tanimoto, Takashi ; Onishi, Kousaku ; Kusumoto, Yukihiro ; Sueyoshi, Yuka ; Matsumoto, Kengo ; Hirao, Motohiro ; Yamada, Takuya ; Hiramatsu, Naoki

Nutrients, 2018-12, Vol.10 (12), p.1955 [Periódico revisado por pares]

Switzerland: MDPI AG

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10
Viewing the immune checkpoint VISTA: landscape and outcomes across cancers
Viewing the immune checkpoint VISTA: landscape and outcomes across cancers
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Viewing the immune checkpoint VISTA: landscape and outcomes across cancers

Nishizaki, D. ; Kurzrock, R. ; Miyashita, H. ; Adashek, J.J. ; Lee, S. ; Nikanjam, M. ; Eskander, R.N. ; Patel, H. ; Botta, G.P. ; Nesline, M.K. ; Pabla, S. ; Conroy, J.M. ; DePietro, P. ; Sicklick, J.K. ; Kato, S.

ESMO open, 2024-04, Vol.9 (4), p.102942-102942, Article 102942 [Periódico revisado por pares]

England: Elsevier Ltd

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