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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
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 [Peer Reviewed Journal]

England: Elsevier Ltd

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12
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures
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De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Duarte, Sofia T. ; Charles, Perinne ; Pfundt, Rolph ; van Bokhoven, Hans ; van Ravenswaaij-Arts, Conny ; Morrell, Nicholas W. ; Thrasher, Adrian ; Fletcher, Debra ; Veltman, Marijke ; Davis, John ; Frary, Amy ; Martin, Jennifer M. ; Collins, Janine ; Favier, Remi ; Hart, Daniel ; Heemskerk, Johan W.M. ; Liesner, Ri ; Mangles, Sarah ; Roughley, Catherine ; Tait, R. Campbell ; Thachil, Jecko ; Van Geet, Chris ; De Vries, Minka ; Warner, Timothy Q. ; Furnell, Abigail ; Mapeta, Rutendo ; Whitehorn, Deborah ; Daugherty, Louise ; Deevi, Sri V.V. ; Hu, Fengyuan ; Matser, Vera ; Megy, Karyn ; Tuna, Salih ; von Ziegenweldt, Julie ; Haimel, Matthias ; Richardson, Sylvia ; Rankin, Stuart ; Anderson, Julie ; Stock, Sophie ; Armstrong, Ruth ; Bitner-Glindzicz, Maria ; Brady, Angie ; Clement, Emma ; Firth, Helen ; Flinter, Frances ; French, Courtney ; Holder, Muriel ; Hurst, Jane ; Josifova, Dragana ; Krishnakumar, Deepa ; Kurian, Manju A. ; Mehta, Sarju ; Moore, Anthony ; Rankin, Julia ; Reid, Evan ; Scott, Richard ; Thomas, Ellen ; Wassmer, Evangeline ; Creaser-Myers, Amanda ; Gall, Henning ; Ghataorhe, Pavandeep K. ; Houweling, Arjan C. ; in’t Veld, Anna Huis ; Ross, Rob V. Mackenzie ; Rhodes, Christopher J. ; Soubrier, Florent ; Treacy, Carmen M. ; Vonk Noordegraaf, Anton ; Antrobus, Richard ; Arumugakani, Gururaj ; Bibi, Shahnaz ; Devlin, Lisa ; Ghurye, Rohit ; Grigoriadou, Sofia ; Harper, Lorraine ; Herwadkar, Archana ; Jolles, Stephen ; Kumararatne, Dinakantha ; Lorenzo, Lorena ; Murng, Sai ; Nejentsev, Sergey ; Quinti, Isabella ; Samarghitean, Crina ; Savic, Sinisa ; Yong, Patrick ; Ancliff, Phil ; Layton, Mark ; Mead, Adam ; Roy, Noémi ; Chambers, Jenny ; Estiu, Cecelia ; Simpson, Michael ; Emmerson, Ingrid ; McCarthy, Mark ; Van Zuydam, Natalie ; Afzal, Maryam ; Colby, Elizabeth ; Boycott, Kym M. ; Majewski, Jacek ; Dyment, David

American journal of human genetics, 2018-07, Vol.103 (1), p.144-153 [Peer Reviewed Journal]

United States: Elsevier Inc

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13
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 [Peer Reviewed Journal]

New York: Springer US

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14
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration
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Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration

Arno, Gavin ; Zihni, Ceniz ; Robson, Anthony G. ; Fiorentino, Alessia ; Black, Graeme ; Ponitkos, Nikos ; Holder, Graham E. ; Aitman, Timothy ; Alachkar, Hana ; Allsup, David ; Anderson, Julie ; Armstrong, Ruth ; Arumugakani, Gururaj ; Ashford, Sofie ; Bakchoul, Tamam ; Bariana, Tadbir K. ; Bibi, Shahnaz ; Bitner-Glindzicz, Maria ; Bolton-Maggs, Paula ; Brady, Angie ; Brown, Matthew ; Caulfield, Mark ; Chitre, Manali ; Clowes, Virginia ; Coghlan, Gerry ; Collins, Peter ; Creaser-Myers, Amanda ; DaCosta, Rosa ; Davies, Sophie ; Deegan, Patrick ; Deshpande, Charu ; Doffinger, Rainer ; Egner, William ; Erwood, Marie ; Favier, Remi ; Flinter, Frances ; Furie, Bruce ; Furnell, Abigail ; Gardham, Alice ; Gattens, Michael ; Ghataorhe, Pavandeep K. ; Gibbs, Simon ; Gilmour, Kimberley ; Gissen, Paul ; Goddard, Sarah ; Gordins, Pavel ; Greinacher, Andreas ; Grigoriadou, Sofia ; Hayman, Grant ; Henderson, Robert ; Henskens, Yvonne ; Holden, Simon ; Hu, Fengyuan ; Jolles, Stephen ; Josifova, Dragana ; Keeling, David ; Kelleher, Peter ; Kelly, Anne M. ; Kuijpers, Taco W. ; Kumararatne, Dinakantha ; Kurian, Manju ; Laffan, Michael A. ; Linger, Rachel ; Machado, Rajiv ; Manson, Ania ; Markus, Hugh S. ; Meehan, Sharon ; Ouwehand, Willem H. ; Park, Soo-Mi ; Parker, Alasdair ; Paterson, Joan ; Peerlinck, Kathelijne ; Perry, David J. ; Qasim, Waseem ; Rankin, Julia ; Rehnstrom, Karola ; Roberts, Irene ; Roughley, Catherine ; Rue-Albrecht, Kevin ; Schulze, Harald ; Shamardina, Olga ; Shipley, Debbie ; Simeoni, Ilenia ; Stephens, Jonathan ; Suntharalingam, Jay ; Thachil, Jecko ; Thaventhiran, James ; Thomas, Ellen ; Titterton, Catherine ; Toh, Cheng-Hock ; Turek, Wojciech ; Turro, Ernest ; Van Geet, Chris ; Wakeling, Emma ; Warner, Timothy Q. ; Webster, Andrew ; Wilkins, Martin ; Young, Tim ; Yu, Ping ; Webster, Andrew R.

American journal of human genetics, 2017-02, Vol.100 (2), p.334-342 [Peer Reviewed Journal]

United States: Elsevier Inc

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15
Proton computed tomography of human specimens
Proton computed tomography of human specimens
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Proton computed tomography of human specimens

Hanson, K M ; Bradbury, J N ; Koeppe, R A ; Macek, R J ; Machen, D R ; Morgado, R ; Paciotti, M A ; Sandford, S A ; Steward, V W

Physics in medicine & biology, 1982-01, Vol.27 (1), p.25-36 [Peer Reviewed Journal]

England: IOP Publishing

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16
Sensory information processing in patients with nonalcoholic cirrhosis: Short-latency visual, auditory, and somatosensory event-related potentials
Sensory information processing in patients with nonalcoholic cirrhosis: Short-latency visual, auditory, and somatosensory event-related potentials
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Sensory information processing in patients with nonalcoholic cirrhosis: Short-latency visual, auditory, and somatosensory event-related potentials

Sandford, Sandra L. ; Tarter, Ralph E. ; Sclabassi, Robert ; Van Thiel, David H.

Journal of the neurological sciences, 1987-09, Vol.80 (2), p.269-276 [Peer Reviewed Journal]

Shannon: Elsevier B.V

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17
Hepatic Injury Correlates with Neuropsychologic Impairment
Hepatic Injury Correlates with Neuropsychologic Impairment
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Hepatic Injury Correlates with Neuropsychologic Impairment

Tarter, Ralph E. ; Sandford, Sandra L. ; Hays, Amy L. ; Carra, Joseph P. ; Van Thiel, David H.

International journal of neuroscience, 1989, Vol.44 (1-2), p.75-82 [Peer Reviewed Journal]

London: Informa UK Ltd

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18
Cerebral morphological abnormalities associated with non-alcoholic cirrhosis
Cerebral morphological abnormalities associated with non-alcoholic cirrhosis
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Cerebral morphological abnormalities associated with non-alcoholic cirrhosis

TARTER, R. E ; SANDFORD, S. S ; HAYS, A. L ; VAN THIEL, D. H

The Lancet (British edition), 1986-10, Vol.2 (8512), p.893-894 [Peer Reviewed Journal]

London: Lancet

Full text available

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19
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 [Peer Reviewed Journal]

United States: American Society of Nephrology

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20
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 [Peer Reviewed Journal]

Boston, MA: Massachusetts Medical Society

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