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Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene
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Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene

Sosnay, Patrick R ; Siklosi, Karen R ; Van Goor, Fredrick ; Kaniecki, Kyle ; Yu, Haihui ; Sharma, Neeraj ; Ramalho, Anabela S ; Amaral, Margarida D ; Dorfman, Ruslan ; Zielenski, Julian ; Masica, David L ; Karchin, Rachel ; Millen, Linda ; Thomas, Philip J ; Patrinos, George P ; Corey, Mary ; Lewis, Michelle H ; Rommens, Johanna M ; Castellani, Carlo ; Penland, Christopher M ; Cutting, Garry R

Nature genetics, 2013-10, Vol.45 (10), p.1160-1167 [Periódico revisado por pares]

United States: Nature Publishing Group

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2
Human Epididymis Protein 4: A Novel Serum Inflammatory Biomarker in Cystic Fibrosis
Human Epididymis Protein 4: A Novel Serum Inflammatory Biomarker in Cystic Fibrosis
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Human Epididymis Protein 4: A Novel Serum Inflammatory Biomarker in Cystic Fibrosis

Nagy, Béla, MD, PhD ; Fila, Libor, MD ; Clarke, Luka A., PhD ; Gönczy, Ferenc, MD ; Bede, Olga, MD, PhD ; Nagy, Dóra, MD ; Újhelyi, Rita, MD, PhD ; Szabó, Ágnes, MD ; Anghelyi, Andrea, MD ; Major, Miklós, MD ; Bene, Zsolt, MD ; Fejes, Zsolt, MSc ; Antal-Szalmás, Péter, MD, PhD ; Bhattoa, Harjit Pal, MD, PhD ; Balla, György, MD, PhD ; Kappelmayer, János, MD, PhD ; Amaral, Margarida D., PhD ; Macek, Milan, MD, PhD ; Balogh, István, PhD

Chest, 2016-09, Vol.150 (3), p.661-672 [Periódico revisado por pares]

United States: Elsevier Inc

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3
Intrabladder pressure as predictor of intra-abdominal pressure in horses
Intrabladder pressure as predictor of intra-abdominal pressure in horses
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Intrabladder pressure as predictor of intra-abdominal pressure in horses

de Paula, Vanessa B ; Canola, Paulo A ; Rivera, Gabriela G ; Z Filho, Dárcio ; Amaral, Gabriel P D ; Ferraz, Guilherme C ; Ferraudo, Antônio S ; Canola, Júlio C Katz, Lisa M.

PloS one, 2019-10, Vol.14 (10), p.e0223705-e0223705 [Periódico revisado por pares]

United States: Public Library of Science

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4
Genome‐wide association study of shared components of reading disability and language impairment
Genome‐wide association study of shared components of reading disability and language impairment
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Genome‐wide association study of shared components of reading disability and language impairment

Eicher, J. D. ; Powers, N. R. ; Miller, L. L. ; Akshoomoff, N. ; Amaral, D. G. ; Bloss, C. S. ; Libiger, O. ; Schork, N. J. ; Darst, B. F. ; Casey, B. J. ; Chang, L ; Ernst, T. ; Frazier, J. ; Kaufmann, W. E. ; Keating, B. ; Kenet, T. ; Kennedy, D. ; Mostofsky, S. ; Murray, S. S. ; Sowell, E. R. ; Bartsch, H. ; Kuperman, J. M. ; Brown, T. T. ; Hagler, D. J. ; Dale, A. M. ; Jernigan, T. L. ; St. Pourcain, B. ; Davey Smith, G. ; Ring, S. M. ; Gruen, J. R.

Genes, brain and behavior, 2013-11, Vol.12 (8), p.792-801 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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5
Assessing the residual CFTR gene expression in human nasal epithelium cells bearing CFTR splicing mutations causing cystic fibrosis
Assessing the residual CFTR gene expression in human nasal epithelium cells bearing CFTR splicing mutations causing cystic fibrosis
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Assessing the residual CFTR gene expression in human nasal epithelium cells bearing CFTR splicing mutations causing cystic fibrosis

Masvidal, Laia ; Igreja, Susana ; Ramos, Maria D ; Alvarez, Antoni ; de Gracia, Javier ; Ramalho, Anabela ; Amaral, Margarida D ; Larriba, Sara ; Casals, Teresa

European journal of human genetics : EJHG, 2014-06, Vol.22 (6), p.784-791 [Periódico revisado por pares]

England: Nature Publishing Group

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6
Changes in transcriptome of native nasal epithelium expressing F508del-CFTR and intersecting data from comparable studies
Changes in transcriptome of native nasal epithelium expressing F508del-CFTR and intersecting data from comparable studies
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Changes in transcriptome of native nasal epithelium expressing F508del-CFTR and intersecting data from comparable studies

Clarke, Luka A ; Sousa, Lisete ; Barreto, Celeste ; Amaral, Margarida D

Respiratory research, 2013-03, Vol.14 (1), p.38-38 [Periódico revisado por pares]

England: BioMed Central Ltd

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7
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
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Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

Stessman, Holly A F ; Xiong, Bo ; Coe, Bradley P ; Wang, Tianyun ; Hoekzema, Kendra ; Fenckova, Michaela ; Kvarnung, Malin ; Gerdts, Jennifer ; Trinh, Sandy ; Cosemans, Nele ; Vives, Laura ; Lin, Janice ; Turner, Tychele N ; Santen, Gijs ; Ruivenkamp, Claudia ; Kriek, Marjolein ; van Haeringen, Arie ; Aten, Emmelien ; Friend, Kathryn ; Liebelt, Jan ; Barnett, Christopher ; Haan, Eric ; Shaw, Marie ; Gecz, Jozef ; Anderlid, Britt-Marie ; Nordgren, Ann ; Lindstrand, Anna ; Schwartz, Charles ; Kooy, R Frank ; Vandeweyer, Geert ; Helsmoortel, Celine ; Romano, Corrado ; Alberti, Antonino ; Vinci, Mirella ; Avola, Emanuela ; Giusto, Stefania ; Courchesne, Eric ; Pramparo, Tiziano ; Pierce, Karen ; Nalabolu, Srinivasa ; Amaral, David G ; Scheffer, Ingrid E ; Delatycki, Martin B ; Lockhart, Paul J ; Hormozdiari, Fereydoun ; Harich, Benjamin ; Castells-Nobau, Anna ; Xia, Kun ; Peeters, Hilde ; Nordenskjöld, Magnus ; Schenck, Annette ; Bernier, Raphael A ; Eichler, Evan E

Nature genetics, 2017-04, Vol.49 (4), p.515-526 [Periódico revisado por pares]

United States: Nature Publishing Group

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8
LANGERHANS CELL HISTIOCYTOSIS: Retrospective Evaluation of 123 Patients at a Single Institution
LANGERHANS CELL HISTIOCYTOSIS: Retrospective Evaluation of 123 Patients at a Single Institution
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LANGERHANS CELL HISTIOCYTOSIS: Retrospective Evaluation of 123 Patients at a Single Institution

Braier, Jorge ; Chantada, Guillermo ; Rosso, Diego ; Bernaldez, Patricia ; Amaral, Diego ; Latella, Antonio ; Balancini, Blanca ; Masautis, Alicia ; Goldberg, Julio

Pediatric hematology and oncology, 1999, Vol.16 (5), p.377-385 [Periódico revisado por pares]

Philadelphia, PA: Informa UK Ltd

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9
Heart Rate Variability During Sleep in Patients with Vasovagal Syncope
Heart Rate Variability During Sleep in Patients with Vasovagal Syncope
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Heart Rate Variability During Sleep in Patients with Vasovagal Syncope

CINTRA, FATIMA ; POYARES, DALVA ; DO AMARAL, ALESSANDRO ; DE MARCHI, GUILHERME ; BARRETO, SIMONE ; TUFIK, SERGIO ; DE PAOLA, ANGELO ; GUILLEMINAULT, CHRISTIAN

Pacing and clinical electrophysiology, 2005-12, Vol.28 (12), p.1310-1316 [Periódico revisado por pares]

350 Main Street , Malden , MA 02148-5018 , USA and 9600 Garsington Road , Oxford OX4 2DQ , UK: Blackwell Science Inc

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10
Heritability of Quantitative Orbital Traits
Heritability of Quantitative Orbital Traits
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Heritability of Quantitative Orbital Traits

RAPOSO-DO-AMARAL, C.M. ; KRIEGER, H. ; CABELLO, P.H. ; BEIGUELMAN, B.

Human biology, 1989-08, Vol.61 (4), p.551-557 [Periódico revisado por pares]

Detroit, MI: Wayne State University Press

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