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1
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
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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4
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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5
Spectral width parameter for wind-generated ocean waves
Spectral width parameter for wind-generated ocean waves
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Spectral width parameter for wind-generated ocean waves

Prasada Rao, C xxxV K

Journal of Earth System Science, 1988-12, Vol.97 (2), p.173-181 [Periódico revisado por pares]

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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
Cryptic subtelomeric rearrangements and X chromosome mosaicism: a study of 565 apparently normal individuals with fluorescent in situ hybridization
Cryptic subtelomeric rearrangements and X chromosome mosaicism: a study of 565 apparently normal individuals with fluorescent in situ hybridization
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Cryptic subtelomeric rearrangements and X chromosome mosaicism: a study of 565 apparently normal individuals with fluorescent in situ hybridization

Wise, Jasen L ; Crout, Richard J ; McNeil, Daniel W ; Weyant, Robert J ; Marazita, Mary L ; Wenger, Sharon L Aziz, Syed A.

PloS one, 2009-06, Vol.4 (6), p.e5855 [Periódico revisado por pares]

United States: Public Library of Science

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