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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
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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
Noninvasive prenatal testing for assessing foetal sex chromosome aneuploidy: a retrospective study of 45,773 cases
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Noninvasive prenatal testing for assessing foetal sex chromosome aneuploidy: a retrospective study of 45,773 cases

Lu, Xinran ; Wang, Chaohong ; Sun, Yuxiu ; Tang, Junxiang ; Tong, Keting ; Zhu, Jiansheng

Molecular cytogenetics, 2021-01, Vol.14 (1), p.1-1, Article 1 [Periódico revisado por pares]

England: BioMed Central Ltd

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3
Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature
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Artigo
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Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature

Demily, Caroline ; Poisson, Alice ; Peyroux, Elodie ; Gatellier, Valérie ; Nicolas, Alain ; Rigard, Caroline ; Schluth-Bolard, Caroline ; Sanlaville, Damien ; Rossi, Massimiliano

BMC medical genetics, 2017-01, Vol.18 (1), p.9-9, Article 9 [Periódico revisado por pares]

England: BioMed Central Ltd

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4
Abnormal X: autosome ratio, but normal X chromosome inactivation in human triploid cultures
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Artigo
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Abnormal X: autosome ratio, but normal X chromosome inactivation in human triploid cultures

Gartler, Stanley M ; Varadarajan, Kartik R ; Luo, Ping ; Norwood, Thomas H ; Canfield, Theresa K ; Hansen, R Scott

BMC genetics, 2006-07, Vol.7 (1), p.41-41, Article 41 [Periódico revisado por pares]

England: BioMed Central Ltd

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5
An unexpectedly high degree of specialization and a widespread involvement in sterol metabolism among the C. elegans putative aminophospholipid translocases
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An unexpectedly high degree of specialization and a widespread involvement in sterol metabolism among the C. elegans putative aminophospholipid translocases

Lyssenko, Nicholas N ; Miteva, Yana ; Gilroy, Simon ; Hanna-Rose, Wendy ; Schlegel, Robert A

BMC developmental biology, 2008-10, Vol.8 (1), p.96-96, Article 96 [Periódico revisado por pares]

England: BioMed Central Ltd

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6
Characterization of autism spectrum disorder and neurodevelopmental profiles in youth with XYY syndrome
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Characterization of autism spectrum disorder and neurodevelopmental profiles in youth with XYY syndrome

Joseph, Lisa ; Farmer, Cristan ; Chlebowski, Colby ; Henry, Laura ; Fish, Ari ; Mankiw, Catherine ; Xenophontos, Anastasia ; Clasen, Liv ; Sauls, Bethany ; Seidlitz, Jakob ; Blumenthal, Jonathan ; Torres, Erin ; Thurm, Audrey ; Raznahan, Armin

Journal of neurodevelopmental disorders, 2018-10, Vol.10 (1), p.30-30, Article 30 [Periódico revisado por pares]

England: BioMed Central Ltd

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7
The efficacy and safety of combined administration of intravenous and topical tranexamic acid in primary total knee arthroplasty: a meta-analysis of randomized controlled trials
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Artigo
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The efficacy and safety of combined administration of intravenous and topical tranexamic acid in primary total knee arthroplasty: a meta-analysis of randomized controlled trials

Xiong, Huazhang ; Liu, Yi ; Zeng, Yi ; Wu, Yuangang ; Shen, Bin

BMC musculoskeletal disorders, 2018-09, Vol.19 (1), p.321-321, Article 321 [Periódico revisado por pares]

England: BioMed Central Ltd

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8
Childhood-onset primary Sjögren's syndrome in a tertiary center in China: clinical features and outcome
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Artigo
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Childhood-onset primary Sjögren's syndrome in a tertiary center in China: clinical features and outcome

Gong, Yinv ; Liu, Haimei ; Li, Guomin ; Zhang, Tao ; Li, Yifan ; Guan, Wanzhen ; Zeng, Qiaoqian ; Lv, Qianying ; Zhang, Xiaomei ; Yao, Wen ; Shi, Yu ; Xu, Hong ; Sun, Li

Pediatric rheumatology online journal, 2023-01, Vol.21 (1), p.11-11, Article 11 [Periódico revisado por pares]

England: BioMed Central Ltd

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9
Perceptions of the COVID-19 pandemic: a qualitative study with South African adults
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Artigo
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Perceptions of the COVID-19 pandemic: a qualitative study with South African adults

Silubonde, Takana M ; Knight, Lucia ; Norris, Shane A ; van Heerden, Alastair ; Goldstein, Susan ; Draper, Catherine E

BMC public health, 2023-04, Vol.23 (1), p.684-684, Article 684 [Periódico revisado por pares]

England: BioMed Central Ltd

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10
Quantifying the resolution of spatial and temporal representation in children with 22q11.2 deletion syndrome
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Quantifying the resolution of spatial and temporal representation in children with 22q11.2 deletion syndrome

McCabe, Kathryn L ; Popa, Abbie M ; Durdle, Courtney ; Amato, Michele ; Cabaral, Margarita H ; Cruz, Joshua ; Wong, Ling M ; Harvey, Danielle ; Tartaglia, Nicole ; Simon, Tony J

Journal of neurodevelopmental disorders, 2019-12, Vol.11 (1), p.40-40, Article 40 [Periódico revisado por pares]

England: BioMed Central Ltd

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