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1
Cancer cytogenetics
Cancer cytogenetics
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Cancer cytogenetics

Heim, Sverre ; Mitelman, Felix

Hoboken, N.J: Wiley-Blackwell 2009

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2
Screening for Fetal Chromosomal Abnormalities: ACOG Practice Bulletin, Number 226
Screening for Fetal Chromosomal Abnormalities: ACOG Practice Bulletin, Number 226
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Screening for Fetal Chromosomal Abnormalities: ACOG Practice Bulletin, Number 226

Rose, Nancy C ; Kaimal, Anjali J ; Dugoff, Lorraine ; Norton, Mary E

Obstetrics and gynecology (New York. 1953), 2020-10, Vol.136 (4), p.e48-e69 [Periódico revisado por pares]

United States: by The American College of Obstetricians and Gynecologists. Published by Wolters Kluwer Health, Inc. All rights reserved

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3
Optical genome mapping enables constitutional chromosomal aberration detection
Optical genome mapping enables constitutional chromosomal aberration detection
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Optical genome mapping enables constitutional chromosomal aberration detection

Mantere, Tuomo ; Neveling, Kornelia ; Pebrel-Richard, Céline ; Benoist, Marion ; van der Zande, Guillaume ; Kater-Baats, Ellen ; Baatout, Imane ; van Beek, Ronald ; Yammine, Tony ; Oorsprong, Michiel ; Hsoumi, Faten ; Olde-Weghuis, Daniel ; Majdali, Wed ; Vermeulen, Susan ; Pauper, Marc ; Lebbar, Aziza ; Stevens-Kroef, Marian ; Sanlaville, Damien ; Dupont, Jean Michel ; Smeets, Dominique ; Hoischen, Alexander ; Schluth-Bolard, Caroline ; El Khattabi, Laïla

American journal of human genetics, 2021-08, Vol.108 (8), p.1409-1422 [Periódico revisado por pares]

United States: Elsevier Inc

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4
Prenatal diagnosis by chromosomal microarray analysis
Prenatal diagnosis by chromosomal microarray analysis
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Prenatal diagnosis by chromosomal microarray analysis

Levy, Brynn ; Wapner, Ronald

Fertility and sterility, 2018-02, Vol.109 (2), p.201-212 [Periódico revisado por pares]

United States: Elsevier Inc

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5
The TNF Receptor Superfamily in Co-stimulating and Co-inhibitory Responses
The TNF Receptor Superfamily in Co-stimulating and Co-inhibitory Responses
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The TNF Receptor Superfamily in Co-stimulating and Co-inhibitory Responses

Ward-Kavanagh, Lindsay K. ; Lin, Wai Wai ; Šedý, John R. ; Ware, Carl F.

Immunity (Cambridge, Mass.), 2016-05, Vol.44 (5), p.1005-1019 [Periódico revisado por pares]

United States: Elsevier Inc

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6
Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
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Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

Miller, David T. ; Adam, Margaret P. ; Aradhya, Swaroop ; Biesecker, Leslie G. ; Brothman, Arthur R. ; Carter, Nigel P. ; Church, Deanna M. ; Crolla, John A. ; Eichler, Evan E. ; Epstein, Charles J. ; Faucett, W. Andrew ; Feuk, Lars ; Friedman, Jan M. ; Hamosh, Ada ; Jackson, Laird ; Kaminsky, Erin B. ; Kok, Klaas ; Krantz, Ian D. ; Kuhn, Robert M. ; Lee, Charles ; Ostell, James M. ; Rosenberg, Carla ; Scherer, Stephen W. ; Spinner, Nancy B. ; Stavropoulos, Dimitri J. ; Tepperberg, James H. ; Thorland, Erik C. ; Vermeesch, Joris R. ; Waggoner, Darrel J. ; Watson, Michael S. ; Martin, Christa Lese ; Ledbetter, David H.

American journal of human genetics, 2010-05, Vol.86 (5), p.749-764 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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7
Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes
Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes
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Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes

Wapner, Ronald J., MD ; Babiarz, Joshua E., PhD ; Levy, Brynn, MSc (Med), PhD ; Stosic, Melissa, MS ; Zimmermann, Bernhard, PhD ; Sigurjonsson, Styrmir, PhD ; Wayham, Nicholas, BS ; Ryan, Allison, PhD ; Banjevic, Milena, PhD ; Lacroute, Phil, PhD ; Hu, Jing, PhD ; Hall, Megan P., PhD ; Demko, Zachary, PhD ; Siddiqui, Asim, PhD ; Rabinowitz, Matthew, PhD ; Gross, Susan J., MD ; Hill, Matthew, PhD ; Benn, Peter, DSc

American journal of obstetrics and gynecology, 2015-03, Vol.212 (3), p.332.e1-332.e9 [Periódico revisado por pares]

United States: Elsevier Inc

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8
In vitro fertilization with preimplantation genetic diagnosis for aneuploidies in advanced maternal age: a randomized, controlled study
In vitro fertilization with preimplantation genetic diagnosis for aneuploidies in advanced maternal age: a randomized, controlled study
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In vitro fertilization with preimplantation genetic diagnosis for aneuploidies in advanced maternal age: a randomized, controlled study

Rubio, Carmen, Ph.D ; Bellver, José, M.D ; Rodrigo, Lorena, Ph.D ; Castillón, Gema, M.D ; Guillén, Alfredo, M.D ; Vidal, Carmina, M.D ; Giles, Juan, M.D ; Ferrando, Marcos, M.D ; Cabanillas, Sergio, M.D ; Remohí, José, M.D., Ph.D ; Pellicer, Antonio, M.D., Ph.D ; Simón, Carlos, M.D., Ph.D

Fertility and sterility, 2017-05, Vol.107 (5), p.1122-1129 [Periódico revisado por pares]

United States: Elsevier Inc

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9
Symptom onset in autosomal dominant Alzheimer disease: A systematic review and meta-analysis
Symptom onset in autosomal dominant Alzheimer disease: A systematic review and meta-analysis
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Symptom onset in autosomal dominant Alzheimer disease: A systematic review and meta-analysis

Ryman, Davis C ; Acosta-Baena, Natalia ; Aisen, Paul S ; Bird, Thomas ; Danek, Adrian ; Fox, Nick C ; Goate, Alison ; Frommelt, Peter ; Ghetti, Bernardino ; Langbaum, Jessica B.S ; Lopera, Francisco ; Martins, Ralph ; Masters, Colin L ; Mayeux, Richard P ; McDade, Eric ; Moreno, Sonia ; Reiman, Eric M ; Ringman, John M ; Salloway, Steve ; Schofield, Peter R ; Sperling, Reisa ; Tariot, Pierre N ; Xiong, Chengjie ; Morris, John C ; Bateman, Randall J

Neurology, 2014-07, Vol.83 (3), p.253-260 [Periódico revisado por pares]

Hagerstown, MD: American Academy of Neurology

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10
Strong evidence for genotype–phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium
Strong evidence for genotype–phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium
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Strong evidence for genotype–phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium

Levy, Tess ; Foss-Feig, Jennifer H ; Betancur, Catalina ; Siper, Paige M ; Trelles-Thorne, Maria del Pilar ; Halpern, Danielle ; Frank, Yitzchak ; Lozano, Reymundo ; Layton, Christina ; Britvan, Bari ; Bernstein, Jonathan A ; Buxbaum, Joseph D ; Berry-Kravis, Elizabeth ; Powell, Craig M ; Srivastava, Siddharth ; Sahin, Mustafa ; Soorya, Latha ; Thurm, Audrey ; Kolevzon, Alexander

Human molecular genetics, 2022-02, Vol.31 (4), p.625-637 [Periódico revisado por pares]

England: Oxford University Press

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