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Prevalence and architecture of de novo mutations in developmental disorders
Prevalence and architecture of de novo mutations in developmental disorders
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Prevalence and architecture of de novo mutations in developmental disorders

McRae, Jeremy F ; Clayton, Stephen ; Mason, Laura E ; Tivey, Adrian R ; Ahmed, Munaza ; Awada, Jana ; Balasubramanian, Meena ; Banka, Siddharth ; Bennett, Chris ; Bernhard, Birgitta ; Bevan, A. Paul ; Blair, Edward ; Blyth, Moira ; Burn, John ; Castle, Bruce ; Clasper, Susan ; Collins, Amanda ; Collinson, Morag N ; Dabir, Tabib ; Davidson, Rosemarie ; Davies, Sally ; Dean, John ; Donnai, Dian ; Ellard, Sian ; Ellis, Ian ; Everest, Sarah ; Foulds, Nicola ; Fryer, Alan ; Gaunt, Lorraine ; Goudie, David ; Gray, Emma ; Greene, Philip ; Gribble, Susan ; Henderson, Alex ; Hildyard, Lucy ; Holden, Simon ; Holder, Muriel ; Ingram, Stuart ; Jackson, Andrew ; Kaemba, Beckie ; Kazembe, Sandra ; Kinning, Esther ; Kraus, Alison ; Kumar, V. K. Ajith ; Lachlan, Katherine ; Lam, Wayne ; Lim, Derek ; Longman, Cheryl ; Lynch, Sally A ; Maher, Eddy ; Maye, Una ; McKay, Kirsten ; McWilliam, Catherine ; Metcalfe, Kay ; Morgan, Sian ; Murday, Victoria ; Murphy, Helen ; Nemeth, Andrea ; Nevitt, Louise ; Newbury-Ecob, Ruth ; Park, Soo-Mi ; Paterson, Joan ; Payne, Stewart ; Perrett, Daniel ; Pratt, Norman ; Quarrell, Oliver ; Randall, Josh ; Rankin, Julia ; Raymond, Lucy ; Robert, Leema ; Roberts, Paul ; Saggar, Anand ; Samant, Shalaka ; Sampson, Julian ; Sandford, Richard ; Selby, Ann ; Sequeira, Cheryl ; Shearing, Emma ; Smith, Audrey ; Smith, Kath ; Splitt, Miranda ; Suri, Mohnish ; Sutton, Vivienne ; Tatton-Brown, Kate ; Temple, I. Karen ; Turner, Claire ; Varghese, Vinod ; Vasudevan, Pradeep ; Vogt, Julie ; Wakeling, Emma ; Wilcox, Sarah ; Williams, Denise ; Williams, Nicola ; Wilson, Louise ; Wright, Michael ; Yates, Laura ; Yau, Michael ; Wright, Caroline F ; FitzPatrick, David R ; Barrett, Jeffrey C

Nature (London), 2017-02, Vol.542 (7642), p.433-438 [Periódico revisado por pares]

England: Nature Publishing Group

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2
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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3
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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4
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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5
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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6
Maternal Metabolic Complications in Pregnancy and Offspring Behavior Problems at 2 Years of Age
Maternal Metabolic Complications in Pregnancy and Offspring Behavior Problems at 2 Years of Age
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Maternal Metabolic Complications in Pregnancy and Offspring Behavior Problems at 2 Years of Age

Krzeczkowski, John E. ; Lau, Amanda ; Fitzpatrick, Jennifer ; Tamana, Sukhpreet ; Smithson, Lisa ; de Souza, Russell ; Kozyrskyj, Anita L. ; Lefebvre, Diana ; Becker, Allan B. ; Subbarao, Padmaja ; Turvey, Stuart E. ; Pei, Jacqueline ; Schmidt, Louis A. ; Sears, Malcolm R. ; Van Lieshout, Ryan J. ; Mandhane, Piush J.

Maternal and child health journal, 2019-06, Vol.23 (6), p.746-755 [Periódico revisado por pares]

New York: Springer US

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7
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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8
Genetic Modifiers of Lung Disease in Cystic Fibrosis
Genetic Modifiers of Lung Disease in Cystic Fibrosis
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Genetic Modifiers of Lung Disease in Cystic Fibrosis

Drumm, Mitchell L ; Konstan, Michael W ; Schluchter, Mark D ; Handler, Allison ; Pace, Rhonda ; Zou, Fei ; Zariwala, Maimoona ; Fargo, David ; Xu, Airong ; Dunn, John M ; Darrah, Rebecca J ; Dorfman, Ruslan ; Sandford, Andrew J ; Corey, Mary ; Zielenski, Julian ; Durie, Peter ; Goddard, Katrina ; Yankaskas, James R ; Wright, Fred A ; Knowles, Michael R

The New England journal of medicine, 2005-10, Vol.353 (14), p.1443-1453 [Periódico revisado por pares]

Boston, MA: Massachusetts Medical Society

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9
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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10
Asthma and genes encoding components of the vitamin D pathway
Asthma and genes encoding components of the vitamin D pathway
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Asthma and genes encoding components of the vitamin D pathway

Bossé, Yohan ; Lemire, Mathieu ; Poon, Audrey H ; Daley, Denise ; He, Jian-Qing ; Sandford, Andrew ; White, John H ; James, Alan L ; Musk, Arthur William ; Palmer, Lyle J ; Raby, Benjamin A ; Weiss, Scott T ; Kozyrskyj, Anita L ; Becker, Allan ; Hudson, Thomas J ; Laprise, Catherine

Respiratory research, 2009-10, Vol.10 (1), p.98-98, Article 98 [Periódico revisado por pares]

England: BioMed Central Ltd

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