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1
Síndrome de microdeleção 2q32 em paciente da Amazônia ocidental; 2q32 microdeletion syndrome in a patient from the western Amazon
Síndrome de microdeleção 2q32 em paciente da Amazônia ocidental; 2q32 microdeletion syndrome in a patient from the western Amazon
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Síndrome de microdeleção 2q32 em paciente da Amazônia ocidental; 2q32 microdeletion syndrome in a patient from the western Amazon

Oliveira, Wilyan Dias Cosmo; Silva, Christian Rogers Gomes Da; Andrade, Christopher Harrison Salomão; Borges, Edilson Moreira; Sá, Gabriele Batista De; Rocha, Joshua Werner Bicalho Da

Medicina (Ribeirao Preto); Vol. 56 No. 2 (2023); e-194793

Universidade de São Paulo. Faculdade de Medicina de Ribeirão Preto 2023-08-15

Acesso online

2
Molecular genetics of chromosome 21 and Down syndrome proceedings of the Sixth Annual National Down Syndrome Society Symposium, held in New York, New York, December 7-8, 1989
Molecular genetics of chromosome 21 and Down syndrome proceedings of the Sixth Annual National Down Syndrome Society Symposium, held in New York, New York, December 7-8, 1989
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Molecular genetics of chromosome 21 and Down syndrome proceedings of the Sixth Annual National Down Syndrome Society Symposium, held in New York, New York, December 7-8, 1989

National Down Syndrome Society (U.S.) Symposium New York, N.Y.) 1989 David Patterson 1944-; Charles J Epstein

New York Wiley-Liss c1990

Localização: FOB - Fac. Odontologia de Bauru    (616.042 M732 )(Acessar)

3
Analysis of cell‐free DNA in maternal blood in screening for fetal aneuploidies: updated meta‐analysis
Analysis of cell‐free DNA in maternal blood in screening for fetal aneuploidies: updated meta‐analysis
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Analysis of cell‐free DNA in maternal blood in screening for fetal aneuploidies: updated meta‐analysis

Gil, M. M. ; Quezada, M. S. ; Revello, R. ; Akolekar, R. ; Nicolaides, K. H.

Ultrasound in obstetrics & gynecology, 2015-03, Vol.45 (3), p.249-266 [Periódico revisado por pares]

Chichester, UK: John Wiley & Sons, Ltd

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4
Replication stress links structural and numerical cancer chromosomal instability
Replication stress links structural and numerical cancer chromosomal instability
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Replication stress links structural and numerical cancer chromosomal instability

Burrell, Rebecca A ; McClelland, Sarah E ; Endesfelder, David ; Groth, Petra ; Weller, Marie-Christine ; Shaikh, Nadeem ; Domingo, Enric ; Kanu, Nnennaya ; Dewhurst, Sally M ; Gronroos, Eva ; Chew, Su Kit ; Rowan, Andrew J ; Schenk, Arne ; Sheffer, Michal ; Howell, Michael ; Kschischo, Maik ; Behrens, Axel ; Helleday, Thomas ; Bartek, Jiri ; Tomlinson, Ian P ; Swanton, Charles

Nature (London), 2013-02, Vol.494 (7438), p.492-496 [Periódico revisado por pares]

England: Nature Publishing Group

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5
CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits
CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits
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CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits

Macé, Aurélien ; Tuke, Marcus A ; Kristiansson, Kati ; Mattsson, Hannele ; Nõukas, Margit ; Sapkota, Yadav ; Schick, Ursula ; Porcu, Eleonora ; Rüeger, Sina ; McDaid, Aaron F ; Porteous, David ; Winkler, Thomas W ; Shrine, Nick ; Liu, Xueping ; Ang, Wei Q ; Zhang, Weihua ; Feitosa, Mary F ; Venturini, Cristina ; van der Most, Peter J ; Rosengren, Anders ; Wood, Andrew R ; Beaumont, Robin N ; Ruth, Katherine S ; Yaghootkar, Hanieh ; Tyrrell, Jessica ; Havulinna, Aki S ; Boers, Harmen ; Mägi, Reedik ; Kriebel, Jennifer ; Müller-Nurasyid, Martina ; Perola, Markus ; Nieminen, Markku ; Lokki, Marja-Liisa ; Kähönen, Mika ; Geller, Frank ; Lahti, Jari ; Palotie, Aarno ; Koponen, Päivikki ; Lundqvist, Annamari ; Rissanen, Harri ; Bottinger, Erwin P ; Afaq, Saima ; Lenzini, Petra ; Nolte, Ilja M ; Sparsø, Thomas ; Schupf, Nicole ; Christensen, Kaare ; Perls, Thomas T ; Newman, Anne B ; Werge, Thomas ; Snieder, Harold ; Spector, Timothy D ; Chambers, John C ; Koskinen, Seppo ; Melbye, Mads ; Raitakari, Olli T ; Lehtimäki, Terho ; Tobin, Martin D ; Wain, Louise V ; Sinisalo, Juha ; Peters, Annette ; Meitinger, Thomas ; Martin, Nicholas G ; Wray, Naomi R ; Montgomery, Grant W ; Swertz, Morris A ; Vartiainen, Erkki ; Borodulin, Katja ; Männistö, Satu ; Murray, Anna ; Bochud, Murielle ; Jacquemont, Sébastien ; Rivadeneira, Fernando ; Hansen, Thomas F ; Oldehinkel, Albertine J ; Mangino, Massimo ; Province, Michael A ; Deloukas, Panos ; Kooner, Jaspal S ; Freathy, Rachel M ; Pennell, Craig ; Feenstra, Bjarke ; Strachan, David P ; Lettre, Guillaume ; Hirschhorn, Joel ; Cusi, Daniele ; Heid, Iris M ; Hayward, Caroline ; Männik, Katrin ; Beckmann, Jacques S ; Loos, Ruth J F ; Nyholt, Dale R ; Metspalu, Andres ; Eriksson, Johan G ; Weedon, Michael N ; Salomaa, Veikko ; Franke, Lude ; Reymond, Alexandre ; Frayling, Timothy M ; Kutalik, Zoltán

Nature communications, 2017-09, Vol.8 (1), p.744-11, Article 744 [Periódico revisado por pares]

England: Nature Publishing Group

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6
DNA Sequencing versus Standard Prenatal Aneuploidy Screening
DNA Sequencing versus Standard Prenatal Aneuploidy Screening
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DNA Sequencing versus Standard Prenatal Aneuploidy Screening

Bianchi, Diana W ; Parker, R. Lamar ; Wentworth, Jeffrey ; Madankumar, Rajeevi ; Saffer, Craig ; Das, Anita F ; Craig, Joseph A ; Chudova, Darya I ; Devers, Patricia L ; Jones, Keith W ; Oliver, Kelly ; Rava, Richard P ; Sehnert, Amy J

The New England journal of medicine, 2014-02, Vol.370 (9), p.799-808 [Periódico revisado por pares]

Waltham, MA: Massachusetts Medical Society

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7
Non‐invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146 958 pregnancies
Non‐invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146 958 pregnancies
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Non‐invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146 958 pregnancies

Zhang, H. ; Gao, Y. ; Jiang, F. ; Fu, M. ; Yuan, Y. ; Guo, Y. ; Zhu, Z. ; Lin, M. ; Liu, Q. ; Tian, Z. ; Zhang, H. ; Chen, F. ; Lau, T. K. ; Zhao, L. ; Yi, X. ; Yin, Y. ; Wang, W.

Ultrasound in obstetrics & gynecology, 2015-05, Vol.45 (5), p.530-538 [Periódico revisado por pares]

Chichester, UK: John Wiley & Sons, Ltd

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8
Common variants conferring risk of schizophrenia
Common variants conferring risk of schizophrenia
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Common variants conferring risk of schizophrenia

Peltonen, Leena ; Haraldsson, Magnus ; Ge, Dongliang ; Goldstein, David B ; Olesen, Jes ; Bramon, Elvira ; Ruggeri, Mirella ; Kiemeney, Lambertus A ; Carracedo, Angel ; Stefansson, Kari ; Shianna, Kevin V ; Hansen, Thomas ; Lonnqvist, Jouko ; Gustafsson, Omar ; Nyegaard, Mette ; Fossdal, Ragnheidur ; Mors, Ole ; Jönsson, Erik G ; Magnusdottir, Brynja B ; Costas, Javier ; Fink-Jensen, Anders ; Matthews, Paul M ; Thorsteinsdottir, Unnur ; Freimer, Nelson B ; Werge, Thomas ; Andreassen, Ole A ; Djurovic, Srdjan ; Nordentoft, Merete ; Hougaard, David ; Gulcher, Jeffrey R ; Need, Anna C ; Golimbet, Vera ; Kaleda, Vasily ; Cantor, Rita M ; Cichon, Sven ; Muglia, Pierandrea ; Möller, Hans-Jürgen ; Ingason, Andres ; Pietiläinen, Olli P. H ; Steinberg, Stacy ; Réthelyi, János M ; Mortensen, Preben B ; Paunio, Tiina ; Timm, Sally ; Sigmundsson, Thordur ; Walker, Nicholas ; St Clair, David ; Ophoff, Roel A ; Franke, Barbara ; Olason, Pall ; Nöthen, Markus M ; Giegling, Ina ; Kong, Augustine ; Petursson, Hannes ; Murray, Robin ; Breuer, René ; Arango, Celso ; Agartz, Ingrid ; Abramova, Lilia ; Thorgeirsson, Thorgeir E ; Lim Yoon, Joeng ; Stefansson, Hreinn ; Rasmussen, Henrik B ; Sigurdsson, Engilbert ; Fraser, Gillian ; Collier, David A ; Rujescu, Dan ; Hartmann, Annette ; Ettinger, Ulrich ; Toulopoulou, Timi ; Suvisaari, Jaana ; Sanjuan, Julio ; de Frutos, Rosa ; Böttcher, Yvonne ; Picchioni, Marco ; Terenius, Lars ; Rietschel, Marcella ; Masson, Gisli ; Melle, Ingrid ; Strengman, Eric ; Vassos, Evangelos ; Børglum, Anders D ; Norgaard-Pedersen, Bent ; Bitter, István ; Tosato, Sarah ; Tuulio-Henriksson, Annamari ; Mattheisen, Manuel

Nature (London), 2009-08, Vol.460 (7256), p.744-747 [Periódico revisado por pares]

London: Nature Publishing Group

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9
Size-based molecular diagnostics using plasma DNA for noninvasive prenatal testing
Size-based molecular diagnostics using plasma DNA for noninvasive prenatal testing
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Size-based molecular diagnostics using plasma DNA for noninvasive prenatal testing

Yu, Stephanie C. Y. ; Chan, K. C. Allen ; Zheng, Yama W. L. ; Jiang, Peiyong ; Liao, Gary J. W. ; Sun, Hao ; Akolekar, Ranjit ; Leung, Tak Y. ; Go, Attie T. J. I. ; van Vugt, John M. G. ; Minekawa, Ryoko ; Oudejans, Cees B. M. ; Nicolaides, Kypros H. ; Chiu, Rossa W. K. ; Lo, Y. M. Dennis

Proceedings of the National Academy of Sciences - PNAS, 2014-06, Vol.111 (23), p.8583-8588 [Periódico revisado por pares]

United States: National Academy of Sciences

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10
Validation of targeted sequencing of single-nucleotide polymorphisms for non-invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X, and Y
Validation of targeted sequencing of single-nucleotide polymorphisms for non-invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X, and Y
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Validation of targeted sequencing of single-nucleotide polymorphisms for non-invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X, and Y

Nicolaides, K. H. ; Syngelaki, A. ; Gil, M. ; Atanasova, V. ; Markova, D.

Prenatal diagnosis, 2013-06, Vol.33 (6), p.575-579 [Periódico revisado por pares]

England: Blackwell Publishing Ltd

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Deste Autor:

  1. Silva, C
  2. Patterson, D
  3. Borges, E
  4. Andrade, C
  5. Rocha, J

Neste Assunto:

  1. Humans
  2. Science & Technology
  3. Life Sciences & Biomedicine
  4. Chromosomes, Human, Pair 18
  5. Female

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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