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22q11.2 deletion syndrome in patients admitted to a cardiac pediatric intensive care unit in Brazil
22q11.2 deletion syndrome in patients admitted to a cardiac pediatric intensive care unit in Brazil
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22q11.2 deletion syndrome in patients admitted to a cardiac pediatric intensive care unit in Brazil

Rosa, Rafael F.M. ; Pilla, Carlo B. ; Pereira, Vera L.B. ; Flores, José A.M. ; Golendziner, Eliete ; Koshiyama, Dayane B. ; Hertz, Michele T. ; Ricachinevsky, Cláudia P. ; Roman, Tatiana ; Varella-Garcia, Marileila ; Paskulin, Giorgio A.

American journal of medical genetics. Part A, 2008-07, Vol.146A (13), p.1655-1661 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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2
46,XX/69,XXX diploid-triploid mixoploidy with hypothyroidism and precocious puberty
46,XX/69,XXX diploid-triploid mixoploidy with hypothyroidism and precocious puberty
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46,XX/69,XXX diploid-triploid mixoploidy with hypothyroidism and precocious puberty

Järvelä, I E ; Salo, M K ; Santavuori, P ; Salonen, R K

Journal of medical genetics, 1993-11, Vol.30 (11), p.966-967 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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3
47,XXX male: A clinical and molecular study
47,XXX male: A clinical and molecular study
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47,XXX male: A clinical and molecular study

Ogata, Tsutomu ; Matsuo, Mari ; Muroya, Koji ; Koyama, Yasuhiro ; Fukutani, Keiko

American journal of medical genetics, 2001-02, Vol.98 (4), p.353-356 [Periódico revisado por pares]

New York: John Wiley & Sons, Inc

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4
48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome
48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome
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48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome

Tartaglia, Nicole ; Ayari, Natalie ; Howell, Susan ; D'Epagnier, Cheryl ; Zeitler, Philip

Acta Paediatrica, 2011-06, Vol.100 (6), p.851-860 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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5
Abdominal Burkitt-type lymphomas in Algeria
Abdominal Burkitt-type lymphomas in Algeria
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Abdominal Burkitt-type lymphomas in Algeria

LADJADJ, Y ; PHILIP, T ; LENOIR, G. M ; TAZEROUT, F. Z ; BENDISARI, K ; BOUKHELOUA, R ; BIRON, P ; BRUNAT-MENTIGNY, M ; ABOULOLA, M

British journal of cancer, 1984-04, Vol.49 (4), p.503-512 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

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6
Abnormal pigmentation in hypomelanosis of Ito and pigmentary mosaicism: the role of pigmentary genes
Abnormal pigmentation in hypomelanosis of Ito and pigmentary mosaicism: the role of pigmentary genes
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Abnormal pigmentation in hypomelanosis of Ito and pigmentary mosaicism: the role of pigmentary genes

Taibjee, S.M. ; Bennett, D.C. ; Moss, C.

British journal of dermatology (1951), 2004-08, Vol.151 (2), p.269-282 [Periódico revisado por pares]

Oxford, UK: Blackwell Science Ltd

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7
Abnormal sperm morphology and other semen parameters related to the outcome of the hamster oocyte human sperm penetration assay
Abnormal sperm morphology and other semen parameters related to the outcome of the hamster oocyte human sperm penetration assay
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Abnormal sperm morphology and other semen parameters related to the outcome of the hamster oocyte human sperm penetration assay

OEHNIGER, S. ; MORSHEDI, M. ; KRUGER, T. F. ; SWANSON, R. J. ; HAMILTON, MARY ; SIMMONS, KATHRYN F. ; ACOSTA, ANIBAL A. ; MATTAP, J. F.

International journal of andrology, 1988-04, Vol.11 (2), p.107-113 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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8
Abnormal telomere metabolism in Fanconi's anaemia correlates with genomic instability and the probability of developing severe aplastic anaemia
Abnormal telomere metabolism in Fanconi's anaemia correlates with genomic instability and the probability of developing severe aplastic anaemia
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Abnormal telomere metabolism in Fanconi's anaemia correlates with genomic instability and the probability of developing severe aplastic anaemia

Li, Xiaxin ; Leteurtre, François ; Rocha, Vanderson ; Guardiola, Philippe ; Berger, Roland ; Daniel, Marie‐Therese ; Noguera, Maria Helena ; Maarek, Odile ; Roux, Gwenaëlle L. E. ; De La Salmonière, Pauline ; Richard, Patrice ; Gluckman, Eliane

British journal of haematology, 2003-03, Vol.120 (5), p.836-845 [Periódico revisado por pares]

Oxford, UK: Blackwell Science Ltd

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9
Acardia: Epidemiologic findings and literature review from the International Clearinghouse for Birth Defects Surveillance and Research
Acardia: Epidemiologic findings and literature review from the International Clearinghouse for Birth Defects Surveillance and Research
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Acardia: Epidemiologic findings and literature review from the International Clearinghouse for Birth Defects Surveillance and Research

Botto, Lorenzo D. ; Feldkamp, Marcia L. ; Amar, Emmanuelle ; Carey, John C. ; Castilla, Eduardo E. ; Clementi, Maurizio ; Cocchi, Guido ; de Walle, Hermien E.K. ; Halliday, Jane ; Leoncini, Emanuele ; Li, Zhu ; Lowry, R. Brian ; Marengo, Lisa K. ; Martínez-Frías, María-Luisa ; Merlob, Paul ; Morgan, Margery ; Muñoz, Leonora Luna ; Rissmann, Anke ; Ritvanen, Annukka ; Scarano, Gioacchino ; Mastroiacovo, Pierpaolo

American journal of medical genetics. Part C, Seminars in medical genetics, 2011-11, Vol.157C (4), p.262-273

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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10
Accelerated evolution of Protocadherin11X/Y: A candidate gene-pair for cerebral asymmetry and language
Accelerated evolution of Protocadherin11X/Y: A candidate gene-pair for cerebral asymmetry and language
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Accelerated evolution of Protocadherin11X/Y: A candidate gene-pair for cerebral asymmetry and language

Williams, Nic A. ; Close, James P. ; Giouzeli, Maria ; Crow, Timothy J.

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2006-09, Vol.141B (6), p.623-633 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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