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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
Detection of Cryptic Fragile X Full Mutation Alleles by Southern Blot in a Female and Her Foetal DNA via Chorionic Villus Sampling, Complicated by Mosaicism for 45,X0/46,XX/47,XXX
Detection of Cryptic Fragile X Full Mutation Alleles by Southern Blot in a Female and Her Foetal DNA via Chorionic Villus Sampling, Complicated by Mosaicism for 45,X0/46,XX/47,XXX
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Detection of Cryptic Fragile X Full Mutation Alleles by Southern Blot in a Female and Her Foetal DNA via Chorionic Villus Sampling, Complicated by Mosaicism for 45,X0/46,XX/47,XXX

Pandelache, Alison ; Francis, David ; Oertel, Ralph ; Dickson, Rebecca ; Sachdev, Rani ; Ling, Ling ; Gamage, Dinusha ; Godler, David E.

Genes, 2021-06, Vol.12 (6), p.798 [Periódico revisado por pares]

Basel: MDPI AG

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3
The evolutionary history of Drosophila buzzatii. XXX. Mitochondrial DNA polymorphism in original and colonizing populations
The evolutionary history of Drosophila buzzatii. XXX. Mitochondrial DNA polymorphism in original and colonizing populations
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The evolutionary history of Drosophila buzzatii. XXX. Mitochondrial DNA polymorphism in original and colonizing populations

Rossi, M S ; Barrio, E ; Latorre, A ; Quezada-Díaz, J E ; Hasson, E ; Moya, A ; Fontdevila, A

Molecular biology and evolution, 1996-02, Vol.13 (2), p.314-323 [Periódico revisado por pares]

United States

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4
Noninvasive prenatal testing for assessing foetal sex chromosome aneuploidy: a retrospective study of 45,773 cases
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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5
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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6
Sex-chromosome dosage effects on gene expression in humans
Sex-chromosome dosage effects on gene expression in humans
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Sex-chromosome dosage effects on gene expression in humans

Raznahan, Armin ; Parikshak, Neelroop N. ; Chandran, Vijay ; Blumenthal, Jonathan D. ; Clasen, Liv S. ; Alexander-Bloch, Aaron F. ; Zinn, Andrew R. ; Wangsa, Danny ; Wise, Jasen ; Murphy, Declan G. M. ; Bolton, Patrick F. ; Ried, Thomas ; Ross, Judith ; Giedd, Jay N. ; Geschwind, Daniel H.

Proceedings of the National Academy of Sciences - PNAS, 2018-07, Vol.115 (28), p.7398-7403 [Periódico revisado por pares]

United States: National Academy of Sciences

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7
Sports injuries and illnesses during the London Summer Olympic Games 2012
Sports injuries and illnesses during the London Summer Olympic Games 2012
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Sports injuries and illnesses during the London Summer Olympic Games 2012

Engebretsen, Lars ; Soligard, Torbjørn ; Steffen, Kathrin ; Alonso, Juan Manuel ; Aubry, Mark ; Budgett, Richard ; Dvorak, Jiri ; Jegathesan, Manikavasagam ; Meeuwisse, Willem H ; Mountjoy, Margo ; Palmer-Green, Debbie ; Vanhegan, Ivor ; Renström, Per A

British journal of sports medicine, 2013-05, Vol.47 (7), p.407-414 [Periódico revisado por pares]

England: BMJ Publishing Group Ltd and British Association of Sport and Exercise Medicine

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8
Which neurodevelopmental disorders get researched and why?
Which neurodevelopmental disorders get researched and why?
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Which neurodevelopmental disorders get researched and why?

Bishop, Dorothy V M Morty, Rory Edward

PloS one, 2010-11, Vol.5 (11), p.e15112 [Periódico revisado por pares]

United States: Public Library of Science

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9
Functional effects of blocking VEGF/VEGFR2 signaling in the rat urinary bladder in acute and chronic CYP-induced cystitis
Functional effects of blocking VEGF/VEGFR2 signaling in the rat urinary bladder in acute and chronic CYP-induced cystitis
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Functional effects of blocking VEGF/VEGFR2 signaling in the rat urinary bladder in acute and chronic CYP-induced cystitis

Tooke, Katharine ; Girard, Beatrice ; Vizzard, Margaret A

American journal of physiology. Renal physiology, 2019-07, Vol.317 (7), p.F43-F51 [Periódico revisado por pares]

United States: American Physiological Society

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10
Acetylproteomic Analysis Reveals Functional Implications of Lysine Acetylation in Human Spermatozoa (sperm)[S]
Acetylproteomic Analysis Reveals Functional Implications of Lysine Acetylation in Human Spermatozoa (sperm)[S]
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Acetylproteomic Analysis Reveals Functional Implications of Lysine Acetylation in Human Spermatozoa (sperm)[S]

Yu, Heguo ; Diao, Hua ; Wang, Chunmei ; Lin, Yan ; Yu, Fudong ; Lu, Hui ; Xu, Wei ; Li, Zheng ; Shi, Huijuan ; Zhao, Shimin ; Zhou, Yuchuan ; Zhang, Yonglian

Molecular & cellular proteomics, 2015-04, Vol.14 (4), p.1009-1023 [Periódico revisado por pares]

United States: Elsevier Inc

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