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1

Refining analyses of copy number variation identifies specific genes associated with developmental delay

Coe, Bradley P, Witherspoon, Kali, Rosenfeld, Jill A, van Bon, Bregje W M, Vulto-van Silfhout, Anneke T, Bosco, Paolo, Friend, Kathryn L, Baker, Carl, Buono, Serafino, Vissers, Lisenka E L M, Schuurs-

Journal:

Nature Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 1.26 MB

english, 2014

2

A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation

Khayat, Wujood, Hackett, Anna, Shaw, Marie, Ilie, Alina, Dudding-Byth, Tracy, Kalscheuer, Vera M, Christie, Louise, Corbett, Mark A, Juusola, Jane, Friend, Kathryn L, Kirmse, Brian M, Gecz, Jozef, Fie

Journal:

Human Molecular Genetics

Année:

2018

Langue:

english

Fichier:

PDF, 1.55 MB

english, 2018

3

Doping of Organic Semiconductors Using Molybdenum Trioxide: a Quantitative Time-Dependent Electrical and Spectroscopic Study

Michael C. Gwinner, Riccardo Di Pietro, Yana Vaynzof, Kathryn J. Greenberg, Peter K. H. Ho, Richard H. Friend, Henning Sirringhaus

Journal:

Advanced Functional Materials

Année:

2011

Langue:

english

Fichier:

PDF, 1.04 MB

english, 2011

4

Oxygen-Mediated Coupling of Alcohols over Nanoporous Gold Catalysts at Ambient Pressures

Dr. Kathryn M. Kosuda, Dr. Arne Wittstock, Prof. Cynthia M. Friend, Prof. Marcus Bäumer

Journal:

Angewandte Chemie International Edition

Année:

2012

Langue:

english

Fichier:

PDF, 591 KB

english, 2012

5

Investigations on the trigonal twist process in the pseudooctahedral complexes [MX(CO)2(PP)(η3-R)] (M=Mo or W; X=halide or pseudohalide; PP=bidentate P-donor ligand; R=cycloheptatrienyl, cyclohexenyl or cyclooctenyl)

John Friend, Saeed Y Master, Ian Preece, Dale M Spencer, Kathryn J Taylor, Assay To, John Waters, Mark W Whiteley

Journal:

Journal of Organometallic Chemistry

Année:

2002

Langue:

english

Fichier:

PDF, 139 KB

english, 2002

6

Sauerstoffinduzierte Kupplung und Oxidation von Alkoholen über nanoporösem Gold

Dr. Kathryn M. Kosuda, Dr. Arne Wittstock, Prof. Cynthia M. Friend, Prof. Marcus Bäumer

Journal:

Angewandte Chemie

Année:

2012

Langue:

german

Fichier:

PDF, 585 KB

german, 2012

7

Effect of partitioning pens on aggressive behavior of pigs regrouped at weaning

Linda S. Olesen, Christina M. Nygaard, Ted H. Friend, Diana Bushong, Darrell A. Knabe, Klaus S. Vestergaard, R.Kathryn Vaughan

Journal:

Applied Animal Behaviour Science

Année:

1996

Langue:

english

Fichier:

PDF, 593 KB

english, 1996

8

15-P: Pre-transplant assessment for living donor renal transplantation: Evaluation of the XM-ONE assay

Jeanette Procter, Michelle Ray, Juliet Agudelo, Anand S. Muthusamy, Peter J. Friend, Kathryn J. Wood, Susan V. Fuggle

Journal:

Human Immunology

Année:

2009

Langue:

english

Fichier:

PDF, 50 KB

english, 2009

9

Child protection and domestic violence: Training, practice, and policy issues

Linda G. Mills, Colleen Friend, Kathryn Conroy, Ann Fleck-Henderson, Stefan Krug, Randy H. Magen, Rebecca L. Thomas, John H. Trudeau

Journal:

Children and Youth Services Review

Année:

2000

Langue:

english

Fichier:

PDF, 1.19 MB

english, 2000

10

Study protocol for the Integra Initiative to assess the benefits and costs of integrating sexual and reproductive health and HIV services in Kenya and Swaziland

Charlotte E Warren, Susannah H Mayhew, Anna Vassall, James Kelly Kimani, Kathryn Church, Carol Dayo Obure, Natalie Friend du-Preez, Timothy Abuya, Richard Mutemwa, Manuela Colombini, Isolde Birdthistl

Journal:

BMC Public Health

Année:

2012

Langue:

english

Fichier:

PDF, 872 KB

english, 2012

11

The impact of being newly diagnosed with a bipolar disorder and the short-term outcome of disorder-specific management

Parker, Gordon B, Graham, Rebecca K, Fletcher, Kathryn, Futeran, Shulamit M, Friend, Paul

Journal:

Bipolar Disorders

Année:

2014

Langue:

english

Fichier:

PDF, 136 KB

english, 2014

12

Validation of a new prototypic measure of melancholia

Parker, Gordon, McCraw, Stacey, Fletcher, Kathryn, Friend, Paul, Futeran, Shulamit

Journal:

Comprehensive Psychiatry

Année:

2013

Langue:

english

Fichier:

PDF, 164 KB

english, 2013

13

Whole exome sequencing in foetal akinesia expands the genotype–phenotype spectrum of GBE1 glycogen storage disease mutations

Ravenscroft, Gianina, Thompson, Elizabeth M., Todd, Emily J., Yau, Kyle S., Kresoje, Nina, Sivadorai, Padma, Friend, Kathryn, Riley, Kate, Manton, Nicholas D., Blumbergs, Peter, Fietz, Michael, Duff,

Journal:

Neuromuscular Disorders

Année:

2013

Langue:

english

Fichier:

PDF, 883 KB

english, 2013

14

Screening for bipolar disorder: Does gender distort scores and case-finding estimates?

Parker, Gordon, Fletcher, Kathryn, McCraw, Stacey, Synnott, Howe, Friend, Paul, Mitchell, Philip B., Hadzi-Pavlovic, Dusan

Journal:

Journal of Affective Disorders

Année:

2014

Langue:

english

Fichier:

PDF, 216 KB

english, 2014

15

Self-reported creativity in bipolar disorder: prevalence, types and associated outcomes in mania versus hypomania

McCraw, Stacey, Parker, Gordon, Fletcher, Kathryn, Friend, Paul

Journal:

Journal of Affective Disorders

Année:

2013

Langue:

english

Fichier:

PDF, 247 KB

english, 2013

16

SPIE Proceedings [SPIE SPIE Micro+Nano Materials, Devices, and Applications - Melbourne, Victoria, Australia (Sunday 8 December 2013)] Micro/Nano Materials, Devices, and Systems - Immobilization of zebrafish larvae on a chip-based device for environmental scanning electron microscopy (ESEM) imaging

Friend, James, Tan, H. Hoe, Akagi, Jin, Hall, Chris J., Crosier, Kathryn E., Crosier, Philip S., Wlodkowic, Donald

Année:

2013

Langue:

english

Fichier:

PDF, 756 KB

english, 2013

17

SPIE Proceedings [SPIE SPIE Micro+Nano Materials, Devices, and Applications - Melbourne, Victoria, Australia (Sunday 8 December 2013)] Micro/Nano Materials, Devices, and Systems - A high-throughput lab-on-a-chip interface for zebrafish embryo tests in drug discovery and ecotoxicology

Friend, James, Tan, H. Hoe, Zhu, Feng, Akagi, Jin, Hall, Chris J., Crosier, Kathryn E., Crosier, Philip S., Delaage, Pierre, Wlodkowic, Donald

Année:

2013

Langue:

english

Fichier:

PDF, 1.05 MB

english, 2013

18

Autoreactivity and Exceptional CDR Plasticity (but Not Unusual Polyspecificity) Hinder Elicitation of the Anti-HIV Antibody 4E10

Finton, Kathryn A. K., Larimore, Kevin, Larman, H. Benjamin, Friend, Della, Correnti, Colin, Rupert, Peter B., Elledge, Stephen J., Greenberg, Philip D., Strong, Roland K., Trkola, Alexandra

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 9.74 MB

english, 2013

19

Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations

Field, Michael, Scheffer, Ingrid E, Gill, Deepak, Wilson, Meredith, Christie, Louise, Shaw, Marie, Gardner, Alison, Glubb, Georgie, Hobson, Lynne, Corbett, Mark, Friend, Kathryn, Willis-Owen, Saffron,

Journal:

European Journal of Human Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 355 KB

english, 2012

20

Ontogeny of Recognition Specificity and Functionality for the Broadly Neutralizing Anti-HIV Antibody 4E10

Finton, Kathryn A. K., Friend, Della, Jaffe, James, Gewe, Mesfin, Holmes, Margaret A., Larman, H. Benjamin, Stuart, Andrew, Larimore, Kevin, Greenberg, Philip D., Elledge, Stephen J., Stamatatos, Leon

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 5.44 MB

english, 2014

21

THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability

Kumar, Raman, Corbett, Mark A., van Bon, Bregje W.M., Woenig, Joshua A., Weir, Lloyd, Douglas, Evelyn, Friend, Kathryn L., Gardner, Alison, Shaw, Marie, Jolly, Lachlan A., Tan, Chuan, Hunter, Matthew

Journal:

The American Journal of Human Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 1.40 MB

english, 2015

22

Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems

Kumar, Raman, Corbett, Mark A., Van Bon, Bregje W.M., Gardner, Alison, Woenig, Joshua A., Jolly, Lachlan A., Douglas, Evelyn, Friend, Kathryn, Tan, Chuan, Van Esch, Hilde, Holvoet, Maureen, Raynaud, M

Journal:

Human Molecular Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 647 KB

english, 2015

23

SPIE Proceedings [SPIE Symposium on Applied Photonics - Glasgow, United Kingdom (Sunday 21 May 2000)] Fifth European Conference on Smart Structures and Materials - Measurement of in-plane and out-of-plane displacements for ultrasonic flaw detection

Dong, Fengzhong, Atherton, Kathryn, Pierce, S. Gareth, Culshaw, Brian, Gobin, Pierre F., Friend, Clifford M.

Année:

2000

Langue:

english

Fichier:

PDF, 659 KB

english, 2000

24

Peripheral Blood Sampling for the Detection of Allograft Rejection: Biomarker Identification and Validation

Heidt, Sebastiaan, San Segundo, David, Shankar, Sushma, Mittal, Shruti, Muthusamy, Anand S.R., Friend, Peter J., Fuggle, Susan V., Wood, Kathryn J.

Journal:

Transplantation Journal

Année:

2011

Langue:

english

Fichier:

PDF, 452 KB

english, 2011

25

Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

Grozeva, Detelina, Carss, Keren, Spasic-Boskovic, Olivera, Tejada, Maria-Isabel, Gecz, Jozef, Shaw, Marie, Corbett, Mark, Haan, Eric, Thompson, Elizabeth, Friend, Kathryn, Hussain, Zaamin, Hackett, An

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 230 KB

english, 2015

26

A non-coding variant in the 5ʹ UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability

Kumar, Raman, Ha, Thuong, Pham, Duyen, Shaw, Marie, Mangelsdorf, Marie, Friend, Kathryn L, Hobson, Lynne, Turner, Gillian, Boyle, Jackie, Field, Michael, Hackett, Anna, Corbett, Mark, Gecz, Jozef

Journal:

European Journal of Human Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 839 KB

english, 2016

27

Examination of Serum miRNA Levels in Kidney Transplant Recipients With Acute Rejection

Betts, Gareth, Shankar, Sushma, Sherston, Sam, Friend, Peter, Wood, Kathryn J.

Journal:

Transplantation Journal

Année:

2014

Langue:

english

Fichier:

PDF, 1.29 MB

english, 2014

28

Recipient Memory-Like Lymphocytes Remain Unresponsive to Graft Antigens After CAMPATH-1H Induction with Reduced Maintenance Immunosuppression

Trzonkowski, Piotr, Zilvetti, Miguel, Friend, Peter, Wood, Kathryn J.

Journal:

Transplantation Journal

Année:

2006

Langue:

english

Fichier:

PDF, 1.58 MB

english, 2006

29

Need, demand and missed opportunities for integrated reproductive health–HIV care in Kenya and Swaziland

Mak, Joelle, Birdthistle, Isolde, Church, Kathryn, Preez, Natalie Friend-Du, Kivunaga, Jackline, Kikuvi, Joshua, Masuku, Rachel, Mayhew, Susannah H.

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 246 KB

english, 2013

30

Reducing Surgical Site Infections at a Pediatric Academic Medical Center

Ryckman, Frederick C., Schoettker, Pamela J., Hays, Kathryn R., Connelly, Beverly L., Blacklidge, Rebecca L., Bedinghaus, Cindi A., Sorter, Mary Lou, Friend, Lloyd C., Kotagal, Uma R.

Journal:

The Joint Commission Journal on Quality and Patient Safety

Année:

2009

Langue:

english

Fichier:

PDF, 615 KB

english, 2009

31

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains

Geisheker, Madeleine R, Heymann, Gabriel, Wang, Tianyun, Coe, Bradley P, Turner, Tychele N, Stessman, Holly A F, Hoekzema, Kendra, Kvarnung, Malin, Shaw, Marie, Friend, Kathryn, Liebelt, Jan, Barnett,

Journal:

Nature Neuroscience

Année:

2017

Langue:

english

Fichier:

PDF, 1.26 MB

english, 2017