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1
Elemental Hair Analysis: New Evidence on the Etiology of Cribra Orbitalia in Sudanese Nubia
Elemental Hair Analysis: New Evidence on the Etiology of Cribra Orbitalia in Sudanese Nubia
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Elemental Hair Analysis: New Evidence on the Etiology of Cribra Orbitalia in Sudanese Nubia

Sandford, Mary K. ; Van Gerven, Dennis P. ; Meglen, Robert R.

Human biology, 1983-12, Vol.55 (4), p.831-844 [Periódico revisado por pares]

United States: Wayne State University Press

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2
A Canadian genome-wide association study and meta-analysis confirm HLA as a risk factor for peanut allergy independent of asthma
A Canadian genome-wide association study and meta-analysis confirm HLA as a risk factor for peanut allergy independent of asthma
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A Canadian genome-wide association study and meta-analysis confirm HLA as a risk factor for peanut allergy independent of asthma

Asai, Yuka ; Eslami, Aida ; van Ginkel, C. Dorien ; Akhabir, Loubna ; Wan, Ming ; Yin, David ; Ellis, George ; Ben-Shoshan, Moshe ; Marenholz, Ingo ; Martino, David ; Ferreira, Manuel A. ; Allen, Katrina ; Mazer, Bruce ; de Groot, Hans ; de Jong, Nicolette W. ; Gerth van Wijk, Roy ; Dubois, Anthony E.J. ; Grosche, Sarah ; Ashley, Sarah ; Rüschendorf, Franz ; Kalb, Birgit ; Beyer, Kirsten ; Nöthen, Markus M. ; Lee, Young-Ae ; Chin, Rick ; Cheuk, Stephen ; Hoffman, Joshua ; Jorgensen, Eric ; Witte, John S. ; Melles, Ronald B. ; Hong, Xiumei ; Wang, Xiaobin ; Hui, Jennie ; Musk, Arthur W. (Bill) ; Hunter, Michael ; James, Alan L. ; Koppelman, Gerard H. ; Sandford, Andrew J. ; Clarke, Ann E. ; Daley, Denise

Journal of allergy and clinical immunology, 2018-04, Vol.141 (4), p.1513-1516 [Periódico revisado por pares]

United States: Elsevier Inc

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3
Cystic fibrosis modifier genes related to Pseudomonas aeruginosa infection
Cystic fibrosis modifier genes related to Pseudomonas aeruginosa infection
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Cystic fibrosis modifier genes related to Pseudomonas aeruginosa infection

Park, J E ; Yung, R ; Stefanowicz, D ; Shumansky, K ; Akhabir, L ; Durie, P R ; Corey, M ; Zielenski, J ; Dorfman, R ; Daley, D ; Sandford, A J

Genes and immunity, 2011-07, Vol.12 (5), p.370-377 [Periódico revisado por pares]

England: Nature Publishing Group

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4
Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort
Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort
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Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort

Braddon, Fiona ; Downward, Lewis ; Coward, Richard J ; Griffin, Sian ; Hall, Matt ; Karet Frankl, Fiona ; Kerecuk, Larissa ; Pinney, Jenny ; Sayer, John A ; Waters, Aoife ; Bockenhauer, Detlef ; Gale, Daniel P ; Agbonmwandolor, Joy ; Ahmad, Zubaidah ; Asgari, Ellie ; Ayers, Amanda ; Barratt, Alison ; Barratt, Jonathan ; Benyon, Sarah ; Bhandari, Sunil ; Bond, Sally ; Bramham, Kate ; Branson, Angela ; Byrne, Conor ; Campbell, Gary ; Capell, Alys ; Cathcart, Tracy ; Cheung, Chee Kay ; Chick, Katy-Jane ; Chrysochou, Tina ; Clayton, Christopher ; Cook, Wendy ; Coward, Richard J ; Drayson, Mark ; Evans, Dawn ; Flinter, Frances ; Gale, Daniel P ; Gallagher, Hugh ; Game, David ; Gavrila, Madita ; Gilchrist, Mark ; Goldsmith, Christopher ; Gray, Barry ; Griffith, Megan ; Gupta, Sanjana ; Hillman, Kate ; Htet, Zay ; Huish, Sharon ; Hull, Richard ; Hunter, Karl ; Inston, Nick ; Jayne, David ; Jenkins, Alison ; Kamesh, Lavanya ; Kanigicherla, Durga ; Karet Frankl, Fiona ; Kaur, Amrit ; King, Garry ; King, Grant ; Kislowska, Ewa ; Kokocinska, Maria ; Lawless, Laura ; Mabillard, Holly ; Mahdi, Khalid ; Masoud, Sherry ; Mayfair, Jake ; Meyrick, Simon ; Moochhala, Shabbir ; Morgan, Ann ; Muhammad, Fawad ; Murray, Shona ; Osmaston, Kate ; Padmanabhan, Neal ; Pattison, James ; Persu, Alexandre ; Petchey, William G ; Post, Frank ; Sandford, Richard ; Sarween, Nadia ; Sayer, John A ; Sebire, Neil ; Selvaskandan, Haresh ; Sharma, Asheesh ; Sheerin, Neil ; Shetty, Harish ; Simms, Roslyn ; Smith, Kerry ; Swift, Pauline ; Szklarzewicz, Justyna ; Tam, Fred ; Tan, Kay ; Tischkowitz, Marc ; Tse, Yincent ; Tyerman, Kay ; Usher, Miranda ; Wechalekar, Ashutosh ; Welsh, Gavin I ; West, Nicol ; Williams, Angharad ; Wilson, Patricia D

The Lancet (British edition), 2024-03, Vol.403 (10433), p.1279-1289 [Periódico revisado por pares]

England: Elsevier Ltd

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5
Analysis of data from the ERA-EDTA Registry indicates that conventional treatments for chronic kidney disease do not reduce the need for renal replacement therapy in autosomal dominant polycystic kidney disease
Analysis of data from the ERA-EDTA Registry indicates that conventional treatments for chronic kidney disease do not reduce the need for renal replacement therapy in autosomal dominant polycystic kidney disease
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Analysis of data from the ERA-EDTA Registry indicates that conventional treatments for chronic kidney disease do not reduce the need for renal replacement therapy in autosomal dominant polycystic kidney disease

Spithoven, Edwin M. ; Kramer, Anneke ; Meijer, Esther ; Orskov, Bjarne ; Wanner, Christoph ; Caskey, Fergus ; Collart, Frederic ; Finne, Patrik ; Fogarty, Damian G. ; Groothoff, Jaap W. ; Hoitsma, Andries ; Nogier, Marie-Béatrice ; Postorino, Maurizio ; Ravani, Pietro ; Zurriaga, Oscar ; Jager, Kitty J. ; Gansevoort, Ron T. ; on behalf of the ERA-EDTA Registry, the EuroCYST consortium and the WGIKD

Kidney international, 2014-12, Vol.86 (6), p.1244-1252 [Periódico revisado por pares]

United States: Elsevier Inc

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6
Complex two-gene modulation of lung disease severity in children with cystic fibrosis
Complex two-gene modulation of lung disease severity in children with cystic fibrosis
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Complex two-gene modulation of lung disease severity in children with cystic fibrosis

Dorfman, Ruslan ; Sandford, Andrew ; Taylor, Chelsea ; Huang, Baisong ; Frangolias, Daisy ; Wang, Yongqian ; Sang, Richard ; Pereira, Lilian ; Sun, Lei ; Berthiaume, Yves ; Tsui, Lap-Chee ; Paré, Peter D ; Durie, Peter ; Corey, Mary ; Zielenski, Julian

The Journal of clinical investigation, 2008-03, Vol.118 (3), p.1040-1049 [Periódico revisado por pares]

United States: American Society for Clinical Investigation

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7
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum
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Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum

Crow, Yanick J ; Marshall, Heather ; Rice, Gillian I ; Seabra, Luis ; Jenkinson, Emma M ; Baranano, Kristin ; Battini, Roberta ; Berger, Andrea ; Blair, Edward ; Blauwblomme, Thomas ; Bolduc, Francois ; Boddaert, Natalie ; Buckard, Johannes ; Burnett, Heather ; Calvert, Sophie ; Caumes, Roseline ; Ng, Andy Cheuk‐Him ; Chiang, Diana ; Clifford, David B ; Cordelli, Duccio M ; Burca, Anna ; Demic, Natasha ; Desguerre, Isabelle ; De Waele, Liesbeth ; Di Fonzo, Alessio ; Dunham, S. Richard ; Dyack, Sarah ; Elmslie, Frances ; Ferrand, Mickaël ; Fisher, Gemma ; Karimiani, Ehsan Ghayoor ; Ghoumid, Jamal ; Gibbon, Frances ; Goel, Himanshu ; Hilmarsen, Hilde T ; Hughes, Imelda ; Jacob, Anu ; Jones, Elizabeth A ; Kumar, Ram ; Leventer, Richard J ; MacDonald, Shelley ; Maroofian, Reza ; Mehta, Sarju G ; Metz, Imke ; Monfrini, Edoardo ; Neumann, Daniela ; Noetzel, Michael ; O'Driscoll, Mary ; Õunap, Katrin ; Panzer, Axel ; Parikh, Sumit ; Prabhakar, Prab ; Ramond, Francis ; Sandford, Richard ; Saneto, Russell ; Soh, Calvin ; Stutterd, Chloe A ; Subramanian, Gopinath M ; Talbot, Kevin ; Thomas, Rhys H ; Toro, Camilo ; Touraine, Renaud ; Wakeling, Emma ; Wassmer, Evangeline ; Whitney, Andrea ; Livingston, John H ; O'Keefe, Raymond T ; Badrock, Andrew P

American journal of medical genetics. Part A, 2021-01, Vol.185 (1), p.15-25 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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8
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
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Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Abou Jamra, Rami ; Accogli, Andrea ; Amburgey, Kimberly ; Basinger, Alice A. ; Ceulemans, Sophia ; Charles, Perrine ; McRae, Jeremy F. ; Rajan, Diana ; Ambridge, Kirsty ; Jones, Philip ; Jones, Wendy D. ; Ahmed, Munaza ; Anjum, Uruj ; Armstrong, Ruth ; Barnicoat, Angela ; Bennett, Chris ; Blair, Edward ; Blyth, Moira ; Bourdon, Louise ; Brady, Angela ; Burn, John ; Canham, Natalie ; Cilliers, Deirdre ; Clayton-Smith, Jill ; Coates, Andrea ; Cooper, Nicola ; Dabir, Tabib ; Davies, Sally ; Dean, John ; Devlin, Gemma ; Donnai, Dian ; Donnelly, Carina ; Evans, Karenza ; Fendick, Tina ; Goodship, Judith ; Green, Andrew ; Harrison, Lucy ; Holden, Simon ; Jarvis, Joanna ; Johnson, Diana ; Jones, Elizabeth ; Kumar, V. K. Ajith ; Lachlan, Katherine ; Langman, Caroline ; Maye, Una ; McMullan, Dominic J. ; McWilliam, Catherine ; Metcalfe, Kay ; Norman, Andrew ; Ogilvie, Caroline ; Park, Soo-Mi ; Phipps, Julie ; Prescott, Katrina ; Procter, Annie ; Purnell, Hellen ; Ross, Alison ; Sampson, Julian ; Shannon, Nora ; Skitt, Zara ; Stewart, Fiona ; Stewart, Helen ; Swaminathan, Ganesh Jawahar ; Taylor, Cat ; Tein, Mark ; Treacy, Becky ; Vandersteen, Anthony ; Wallwark, Sarah ; Waters, Jonathon ; Weber, Astrid ; Whiteford, Margo ; Widaa, Sara ; Wilcox, Sarah ; Wilkinson, Emily ; Parker, Michael ; FitzPatrick, David R. ; Demurger, Florence ; Eiset, Saga Elise ; Ferrarini, Alessandra ; Haack, Tobias B. ; Hashim, Mona ; Jonasson, Amy R. ; Kok, Fernando ; Marcelis, Carlo L.M. ; McWalter, Kirsty ; Mercimek-Andrews, Saadet ; Person, Richard ; Ramelli, Gian Paolo ; Rauch, Anita ; Sanchez-Valle, Amarilis ; Sattar, Shifteh ; Saunders, Carol ; Steindl, Katharina ; Syrbe, Steffen ; Taylor, Jenny C. ; Trauner, Doris A. ; Vogel, Ida ; Widjaja, Elysa ; Zak, Jaroslav ; Banka, Siddharth ; Rodan, Lance H.

American journal of human genetics, 2019-06, Vol.104 (6), p.1210-1222 [Periódico revisado por pares]

United States: Elsevier Inc

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9
The Canadian Healthy Infant Longitudinal Development (CHILD) Study: examining developmental origins of allergy and asthma
The Canadian Healthy Infant Longitudinal Development (CHILD) Study: examining developmental origins of allergy and asthma
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The Canadian Healthy Infant Longitudinal Development (CHILD) Study: examining developmental origins of allergy and asthma

Subbarao, Padmaja ; Anand, Sonia S ; Becker, Allan B ; Befus, A Dean ; Brauer, Michael ; Brook, Jeffrey R ; Denburg, Judah A ; HayGlass, Kent T ; Kobor, Michael S ; Kollmann, Tobias R ; Kozyrskyj, Anita L ; Lou, W Y Wendy ; Mandhane, Piushkumar J ; Miller, Gregory E ; Moraes, Theo J ; Pare, Peter D ; Scott, James A ; Takaro, Tim K ; Turvey, Stuart E ; Duncan, Joanne M ; Lefebvre, Diana L ; Sears, Malcolm R

Thorax, 2015-10, Vol.70 (10), p.998-1000 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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10
Primary, Nonsyndromic Vesicoureteric Reflux and Nephropathy in Sibling Pairs: A United Kingdom Cohort for a DNA Bank
Primary, Nonsyndromic Vesicoureteric Reflux and Nephropathy in Sibling Pairs: A United Kingdom Cohort for a DNA Bank
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Primary, Nonsyndromic Vesicoureteric Reflux and Nephropathy in Sibling Pairs: A United Kingdom Cohort for a DNA Bank

Lambert, Heather J ; Stewart, Aisling ; Gullett, Ambrose M ; Cordell, Heather J ; Malcolm, Sue ; Feather, Sally A ; Goodship, Judith A ; Goodship, Timothy H J ; Woolf, Adrian S

Clinical journal of the American Society of Nephrology, 2011-04, Vol.6 (4), p.760-766 [Periódico revisado por pares]

United States: American Society of Nephrology

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