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21
Incidence of X and Y Chromosomal Aneuploidy in a Large Child Bearing Population
Incidence of X and Y Chromosomal Aneuploidy in a Large Child Bearing Population
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Incidence of X and Y Chromosomal Aneuploidy in a Large Child Bearing Population

Samango-Sprouse, Carole ; Kırkızlar, Eser ; Hall, Megan P ; Lawson, Patrick ; Demko, Zachary ; Zneimer, Susan M ; Curnow, Kirsten J ; Gross, Susan ; Gropman, Andrea El-Maarri, Osman

PloS one, 2016-08, Vol.11 (8), p.e0161045-e0161045 [Periódico revisado por pares]

United States: Public Library of Science

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22
Clinical application of noninvasive prenatal screening for sex chromosome aneuploidies in 50,301 pregnancies: initial experience in a Chinese hospital
Clinical application of noninvasive prenatal screening for sex chromosome aneuploidies in 50,301 pregnancies: initial experience in a Chinese hospital
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Clinical application of noninvasive prenatal screening for sex chromosome aneuploidies in 50,301 pregnancies: initial experience in a Chinese hospital

Deng, Cechuan ; Zhu, Qian ; Liu, Sha ; Liu, Jianlong ; Bai, Ting ; Jing, Xiaosha ; Xia, Tianyu ; Liu, Yunyun ; Cheng, Jing ; Li, Zhunduo ; Wei, Xiang ; Xing, Lingling ; Luo, Yuan ; Liu, Hongqian

Scientific reports, 2019-05, Vol.9 (1), p.7767, Article 7767 [Periódico revisado por pares]

England: Nature Publishing Group

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23
Chromosomal abnormalities detected by karyotyping among patients with secondary amenorrhea: a retrospective study
Chromosomal abnormalities detected by karyotyping among patients with secondary amenorrhea: a retrospective study
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Chromosomal abnormalities detected by karyotyping among patients with secondary amenorrhea: a retrospective study

Besson, Marina da Rocha ; Taiarol, Mateus Dos Santos ; Fernandes, Eliaquim Beck ; Ghiorzi, Isadora Bueloni ; Nunes, Maurício Rouvel ; Zen, Paulo Ricardo Gazzola ; Rosa, Rafael Fabiano Machado

São Paulo medical journal, 2023, Vol.141 (5), p.e2022426-e2022426 [Periódico revisado por pares]

Brazil: Associação Paulista de Medicina - APM

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24
Atypical Rett syndrome in a girl with mosaic triple X and MECP2 variant
Atypical Rett syndrome in a girl with mosaic triple X and MECP2 variant
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Atypical Rett syndrome in a girl with mosaic triple X and MECP2 variant

Takahashi, Satoru ; Takeguchi, Ryo ; Kuroda, Mami ; Tanaka, Ryosuke

Molecular genetics & genomic medicine, 2020-03, Vol.8 (3), p.e1122-n/a [Periódico revisado por pares]

United States: John Wiley & Sons, Inc

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25
Turner's syndrome mosaicism in girls with neurodevelopmental disorders: a cohort study and hypothesis
Turner's syndrome mosaicism in girls with neurodevelopmental disorders: a cohort study and hypothesis
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Turner's syndrome mosaicism in girls with neurodevelopmental disorders: a cohort study and hypothesis

Vorsanova, Svetlana G ; Kolotii, Alexey D ; Kurinnaia, Oksana S ; Kravets, Victor S ; Demidova, Irina A ; Soloviev, Ilya V ; Yurov, Yuri B ; Iourov, Ivan Y

Molecular cytogenetics, 2021-02, Vol.14 (1), p.9-9, Article 9 [Periódico revisado por pares]

England: BioMed Central Ltd

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26
VEGF₁₂₁b and VEGF₁₆₅b are weakly angiogenic isoforms of VEGF-A
VEGF₁₂₁b and VEGF₁₆₅b are weakly angiogenic isoforms of VEGF-A
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VEGF₁₂₁b and VEGF₁₆₅b are weakly angiogenic isoforms of VEGF-A

Catena, Raúl ; Larzabal, Leyre ; Larrayoz, Marta ; Molina, Eva ; Hermida, Jose ; Agorreta, Jackeline ; Montes, Ramon ; Pio, Ruben ; Montuenga, Luis M ; Calvo, Alfonso

Molecular cancer, 2010-12, Vol.9 (319), p.320-320, Article 320 [Periódico revisado por pares]

England: BioMed Central Ltd

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27
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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28
The Optimal Cutoff Value of Z-scores Enhances the Judgment Accuracy of Noninvasive Prenatal Screening
The Optimal Cutoff Value of Z-scores Enhances the Judgment Accuracy of Noninvasive Prenatal Screening
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The Optimal Cutoff Value of Z-scores Enhances the Judgment Accuracy of Noninvasive Prenatal Screening

Zhou, Lingna ; Zhang, Bin ; Liu, Jianbing ; Shi, Ye ; Wang, Jing ; Yu, Bin

Frontiers in genetics, 2021-07, Vol.12 [Periódico revisado por pares]

Frontiers Media S.A

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29
The correlation between maternal age and fetal sex chromosome aneuploidies: a 8-year single institution experience in China
The correlation between maternal age and fetal sex chromosome aneuploidies: a 8-year single institution experience in China
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The correlation between maternal age and fetal sex chromosome aneuploidies: a 8-year single institution experience in China

Li, Hongge ; Mao, Yuchan ; Jin, Jinglei

Molecular cytogenetics, 2021-05, Vol.14 (1), p.25-25, Article 25 [Periódico revisado por pares]

England: BioMed Central Ltd

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30
Evaluating the relationship between the proportion of X-chromosome deletions and clinical manifestations in children with turner syndrome
Evaluating the relationship between the proportion of X-chromosome deletions and clinical manifestations in children with turner syndrome
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Evaluating the relationship between the proportion of X-chromosome deletions and clinical manifestations in children with turner syndrome

Wang, Gaowei ; Liu, Xiaojing ; Wang, Meiye ; Wang, Jin ; Zhang, Zhenhua ; Allegaert, Karel ; Mei, Daoqi ; Zhang, Yaodong ; Luo, Shuying ; Fang, Yang ; Li, Dongxiao ; Chen, Yongxing ; Wei, Haiyan

Frontiers in endocrinology (Lausanne), 2024-02, Vol.15, p.1324160-1324160 [Periódico revisado por pares]

Switzerland: Frontiers Media S.A

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