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A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

Zufferey, Flore ; Sherr, Elliott H ; Beckmann, Noam D ; Hanson, Ellen ; Maillard, Anne M ; Hippolyte, Loyse ; Macé, Aurélien ; Ferrari, Carina ; Kutalik, Zoltán ; Andrieux, Joris ; Aylward, Elizabeth ; Barker, Mandy ; Bernier, Raphael ; Bouquillon, Sonia ; Conus, Philippe ; Delobel, Bruno ; Faucett, W Andrew ; Goin-Kochel, Robin P ; Grant, Ellen ; Harewood, Louise ; Hunter, Jill V ; Lebon, Sébastien ; Ledbetter, David H ; Martin, Christa Lese ; Männik, Katrin ; Martinet, Danielle ; Mukherjee, Pratik ; Ramocki, Melissa B ; Spence, Sarah J ; Steinman, Kyle J ; Tjernagel, Jennifer ; Spiro, John E ; Reymond, Alexandre ; Beckmann, Jacques S ; Chung, Wendy K ; Jacquemont, Sébastien ;Addor, Marie Claude ; Arveiler, Benoit ; Belfiore, Marco ; Bena, Frédérique ; Bernardini, Laura ; Blanchet, Patricia ; Bonneau, Dominique ; Boute, Odile ; Callier, Patrick ; Campion, Dominique ; Chiesa, Jean ; Cordier, Marie Pierre ; Cuisset, Jean Marie ; David, Albert ; de Leeuw, Nicole ; de Vries, Bert ; Didelot, Gérard ; Doco-Fenzy, Martine ; Bedu, Bénédicte Duban ; Dubourg, Christèle ; Dupuis-Girod, Sophie ; Fagerberg, Christina R. ; Faivre, Laurence ; Fellmann, Florence ; Fernandez, Bridget A. ; Fisher, Richard ; Flori, Elisabeth ; Goldenberg, Alice ; Heron, Delphine ; Holder, Muriel ; Hoyer, Juliane ; Isidor, Bertrand ; Jaillard, Sylvie ; Jonveaux, Philippe ; Joriot, Sylvie ; Journel, Hubert ; Kooy, Frank ; Le Caignec, Cédric ; Leheup, Bruno ; Lemaitre, Marie-Pierre ; Lewis, Suzanne ; Malan, Valérie ; Mathieu-Dramard, Michèle ; Metspalu, Andres ; Morice-Picard, Fanny ; Mucciolo, Mafalda ; Oiglane-Shlik, Eve ; Ounap, Katrin ; Pasquier, Laurent ; Petit, Florence ; Philippe, Anne ; Plessis, Ghislaine ; Prieur, Fabienne ; Puechberty, Jacques ; Rajcan-Separovic, Evica ; Rauch, Anita ; Renieri, Alessandra ; Rieubland, Claudine ; Rooryck, Caroline ; Rötzer, Katharina Magdalena ; Ruiter, Mariken ; Sanlaville, Damien ; Selmoni, Stéphanie ; Shen, Yiping ; Siffredi, Vanessa ; Thonney, Jacques ; Vallée, Louis ; van Binsbergen, Ellen ; Van Der Aa, Nathalie ; van Haelst, Mieke M. ; Vigneron, Jacqueline ; Vincent-Delorme, Catherine ; Vittoria, Disciglio ; Vulto-van Silfhout, Anneke T ; Witwicki, Robert M ; Zwolinski, Simon A. ; Bowe, Alexandra ; Beaudet, Arthur L ; Brewton, Christie M ; Chu, Zili ; Dempsey, Allison G ; Evans, Yolanda L ; Garza, Silvia ; Kanne, Stephen M ; Laakman, Anna L ; Lasala, Morgan W ; Llorens, Ashlie V ; Marzano, Gabriela ; Moss, Timothy J ; Nowell, Kerri P ; Proud, Monica B ; Chen, Qixuan ; Vaughan, Roger ; Berman, Jeffrey ; Blaskey, Lisa ; Hines, Katherine ; Kessler, Sudha ; Khan, Sarah Y ; Qasmieh, Saba ; Bibb, Audrey Lynn ; Paal, Andrea M ; Page, Patricia Z ; Smith-Packard, Bethanny ; Buckner, Randy ; Burko, Jordan ; Cavanagh, Alyss Lian ; Cerban, Bettina ; Snow, Anne V ; Snyder, Leeanne Green ; Keehn, Rebecca Mcnally ; Miller, David T ; Miller, Fiona K ; Olson, Jennifer Endre ; Triantafallou, Christina ; Visyak, Nicole ; Atwell, Constance ; Benedetti, Marta ; Fischbach, Gerald D ; Greenup, Marion ; Packer, Alan ; Bukshpun, Polina ; Cheong, Maxwell ; Dale, Corby ; Gobuty, Sarah E ; Hinkley, Leighton ; Jeremy, Rita J ; Lee, Hana ; Luks, Tracy L ; Marco, Elysa J ; Martin, Alastair J ; Mcgovern, Kathleen E ; Nagarajan, Srikantan S ; Owen, Julia ; Paul, Brianna M ; Pojman, Nicholas J ; Sinha, Tuhin ; Swarnakar, Vivek ; Wakahiro, Mari ; Alupay, Hanalore ; Aaronson, Benjamin ; Ackerman, Sean ; Ankenman, Katy ; Elgin, Jenna ; Gerdts, Jennifer ; Johnson, Kelly ; Reilly, Beau ; Shaw, Dennis ; Stevens, Arianne ; Ward, Tracey ; Wenegrat, Julia ; Roberts, Timothy Pl

Journal of Medical Genetics, 10 October 2012, Vol.49(10), p.660 [Peer Reviewed Journal]

BMJ Publishing Group Ltd

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A bespoke mobile application for the longitudinal assessment of depression and mood during pregnancy: protocol of a feasibility study

Marcano Belisario, Jose Salvador ; Doherty, Kevin ; O'Donoghue, John ; Ramchandani, Paul ; Majeed, Azeem ; Doherty, Gavin ; Morrison, Cecily ; Car, Josip

BMJ Open, 26 May 2017, Vol.7(5) [Peer Reviewed Journal]

British Medical Journal Publishing Group

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A case of lead poisoning due to snooker chalk

Dargan, P I ; Evans, P H ; House, I M ; Jones, A L

Archives of Disease in Childhood, 1 December 2000, Vol.83(6), p.519 [Peer Reviewed Journal]

BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health

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A clinical role for [ 123 I]MIBG myocardial scintigraphy in the distinction between dementia of the Alzheimer's-type and dementia with Lewy bodies

Yoshita, M ; Taki, J ; Yamada, M

Journal of Neurology, Neurosurgery & Psychiatry, 1 November 2001, Vol.71(5), p.583 [Peer Reviewed Journal]

BMJ Publishing Group Ltd

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5
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A clinical role for 99m Tc-HMPAO SPECT in the investigation of dementia?

Talbot, Paul R ; Lloyd, James J ; Snowden, Julie S ; Neary, David ; Testa, Humberto J

Journal of Neurology, Neurosurgery & Psychiatry, 1 March 1998, Vol.64(3), p.306 [Peer Reviewed Journal]

BMJ Publishing Group Ltd

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6
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A comparison of intramuscular ketamine with high dose intramuscular midazolam with and without intranasal flumazenil in children before suturing

Mcglone, R ; Fleet, T ; Durham, S ; Hollis, S

Emergency Medicine Journal, 1 January 2001, Vol.18(1), p.34 [Peer Reviewed Journal]

BMJ Publishing Group Ltd and the British Association for Accident & Emergency Medicine

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7
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A disability perspective from the United States on the case of Ms B

Coleman, D ; Drake, S

Journal of Medical Ethics, 1 August 2002, Vol.28(4), p.240 [Peer Reviewed Journal]

BMJ Publishing Group Ltd and Institute of Medical Ethics

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8
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A disorder of colour perception associated with abnormal colour after-images: a defect of the primary visual cortex

Chan, D ; Crutch, S J ; Warrington, E K

Journal of Neurology, Neurosurgery & Psychiatry, 1 October 2001, Vol.71(4), p.515 [Peer Reviewed Journal]

BMJ Publishing Group Ltd

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9
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A drug utilisation study of antidepressants in children and adolescents using the General Practice Research Database

Murray, M L ; de Vries, C S ; Wong, I C K

Archives of Disease in Childhood, 19 December 2004, Vol.89(12), p.1098 [Peer Reviewed Journal]

BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health

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10
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A dystonic syndrome associated with anti-basal ganglia antibodies

Edwards, M J ; Dale, R C ; Church, A J ; Giovannoni, G ; Bhatia, K P

Journal of Neurology, Neurosurgery & Psychiatry, 14 June 2004, Vol.75(6), p.914 [Peer Reviewed Journal]

BMJ Publishing Group Ltd

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11
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A longitudinal study of brain atrophy and cognitive disturbances in the early phase of relapsing-remitting multiple sclerosis

Zivadinov, R ; Sepcic, J ; Nasuelli, D ; De Masi, R ; Bragadin, L Monti ; Tommasi, M A ; Zambito-Marsala, S ; Moretti, R ; Bratina, A ; Ukmar, M ; Pozzi-Mucelli, R S ; Grop, A ; Cazzato, G ; Zorzon, M

Journal of Neurology, Neurosurgery & Psychiatry, 1 June 2001, Vol.70(6), p.773 [Peer Reviewed Journal]

BMJ Publishing Group Ltd

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12
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A national two year follow up study of extremely low birthweight infants born in 1996–1997

Tommiska, V ; Heinonen, K ; Kero, P ; Pokela, M-L ; Tammela, O ; Järvenpää, A-L ; Salokorpi, T ; Virtanen, M ; Fellman, V ; Marlow, N

Archives of Disease in Childhood - Fetal and Neonatal Edition, 1 January 2003, Vol.88(1), p.F29 [Peer Reviewed Journal]

BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health

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13
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A neuropathological study of vascular factors in late-life depression

Thomas, A J ; Ferrier, I N ; Kalaria, R N ; Perry, R H ; Brown, A ; O'Brien, J T

Journal of Neurology, Neurosurgery & Psychiatry, 1 January 2001, Vol.70(1), p.83 [Peer Reviewed Journal]

BMJ Publishing Group Ltd

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14
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A new neurological entity manifesting as involuntary movements and dysarthria with possible abnormal copper metabolism

Tagawa, A ; Ono, S ; Shibata, M ; Imai, T ; Suzuki, M ; Shimizu, N

Journal of Neurology, Neurosurgery & Psychiatry, 1 December 2001, Vol.71(6), p.780 [Peer Reviewed Journal]

BMJ Publishing Group Ltd

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15
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A novel locus for late onset amyotrophic lateral sclerosis/motor neurone disease variant at 20q13

Nishimura, A L ; Mitne-Neto, M ; Silva, H C A ; Oliveira, J R M ; Vainzof, M ; Zatz, M

Journal of Medical Genetics, 1 April 2004, Vol.41(4), p.315 [Peer Reviewed Journal]

BMJ Publishing Group Ltd

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16
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A pilot, quasi-experimental, mixed methods investigation into the efficacy of a group psychotherapy intervention for caregivers of outpatients with cancer: the COPE study protocol

Mahendran, Rathi ; Tan, Joyce Yi Siang ; Griva, Konstadina ; Lim, Haikel Asyraf ; Ng, Hui Ying ; Chua, Joanne ; Lim, Siew Eng ; Kua, Ee Heok

BMJ Open, 19 November 2015, Vol.5(11) [Peer Reviewed Journal]

British Medical Journal Publishing Group

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17
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A prospective study of CSF markers in 250 patients with possible Creutzfeldt–Jakob disease

Van Everbroeck, B ; Quoilin, S ; Boons, J ; Martin, J J ; Cras, P

Journal of Neurology, Neurosurgery & Psychiatry, 21 September 2003, Vol.74(9), p.1210 [Peer Reviewed Journal]

BMJ Publishing Group Ltd

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18
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A randomised controlled trial of specialist health visitor intervention for failure to thrive

Raynor, Pauline ; Rudolf, Mary C J ; Cooper, Keith ; Marchant, Paul ; Cottrell, David ; Blair, Mitch

Archives of Disease in Childhood, 1 June 1999, Vol.80(6), p.500 [Peer Reviewed Journal]

BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health

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19
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A register-based 13-year to 43-year follow-up of 70 patients with obsessive–compulsive disorder treated with capsulotomy

Rück, Christian ; Larsson, Johan K ; Mataix-Cols, David ; Ljung, Rickard

BMJ Open, 2017, Vol.7(5) [Peer Reviewed Journal]

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A study of stereotypic behaviours in Alzheimer’s disease and frontal and temporal variant frontotemporal dementia

Nyatsanza, S ; Shetty, T ; Gregory, C ; Lough, S ; Dawson, K ; Hodges, J R

Journal of Neurology, Neurosurgery & Psychiatry, 20 October 2003, Vol.74(10), p.1398 [Peer Reviewed Journal]

BMJ Publishing Group Ltd

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