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1

Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome

I. Balikova, A-E. Lehesjoki, T.J.L. de Ravel, B. Thienpont, K.E. Chandler, J. Clayton-Smith, A-L. Träskelin, J-P. Fryns, J.R. Vermeesch

Journal:

Year:

2009

Language:

english

File:

PDF, 254 KB

english, 2009

2

Production and global transport of Titan’s sand particles

Barnes, Jason W, Lorenz, Ralph D, Radebaugh, Jani, Hayes, Alexander G, Arnold, Karl, Chandler, Clayton

Journal:

Planetary Science

Year:

2015

Language:

english

File:

PDF, 4.33 MB

english, 2015

3

Long-Acting Therapy of Viral Retinitis with (S)-1-(3-Hydroxy-2-Phosphonylmethoxypropyl)cytosine

Marisa Flores-Aguilar, Jen-Shang Huang, Clayton A. Wiley, Erik De Clercq, Chau Vuong, Germaine Bergeron-Lynn, Beverly Chandler, David Munguia and William R. Freeman

Journal:

The Journal of Infectious Diseases

Year:

1994

Language:

english

File:

PDF, 1.66 MB

english, 1994

4

Diagnosing fetal alcohol syndrome: new insights from newer genetic technologies

Douzgou, S., Breen, C., Crow, Y. J., Chandler, K., Metcalfe, K., Jones, E., Kerr, B., Clayton-Smith, J.

Journal:

Archives of Disease in Childhood

Year:

2012

Language:

english

File:

PDF, 198 KB

english, 2012

5

Neuropsychological Assessment of a Group of UK Patients with Cohen Syndrome

K. E. Chandler, M. Moffett, J. Clayton-smith, G. A. Baker

Year:

2003

Language:

english

File:

PDF, 432 KB

english, 2003

6

Does a Jewish type of Cohen syndrome truly exist?

K.E. Chandler, Jill Clayton-Smith

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 34 KB

english, 2002

7

Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome

Jill Clayton-Smith, James O'Sullivan, Sarah Daly, Sanjeev Bhaskar, Ruth Day, Beverley Anderson, Anne K. Voss, Tim Thomas, Leslie G. Biesecker, Philip Smith, Alan Fryer, Kate E. Chandler, Bronwyn Kerr,

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 538 KB

english, 2011

8

[ACM Press Proceeding of the eleventh international ACM SIGACCESS conference - Pittsburgh, Pennsylvania, USA (2009.10.25-2009.10.28)] Proceeding of the eleventh international ACM SIGACCESS conference on Computers and accessibility - ASSETS '09 - Naming practice for people with aphasia as a mobile web application

Chandler, Skye, Harris, Jesse, Moncrief, Alex, Lewis, Clayton

Year:

2009

Language:

english

File:

PDF, 382 KB

english, 2009

9

[IEEE 2010 International Symposium on Parallel and Distributed Processing with Applications (ISPA) - Taipei, Taiwan (2010.09.6-2010.09.9)] International Symposium on Parallel and Distributed Processing with Applications - Proficiency Metrics for Failure Prediction in High Performance Computing

Taerat, Narate, Leangsuksun, Chokchai, Chandler, Clayton, Naksinehaboon, Nichamon

Year:

2010

Language:

english

File:

PDF, 397 KB

english, 2010

10

[IEEE 2009 International Conference on Availability, Reliability and Security - Fukuoka, Japan (2009.03.16-2009.03.19)] 2009 International Conference on Availability, Reliability and Security - Blue Gene/L Log Analysis and Time to Interrupt Estimation

Taerat, Narate, Naksinehaboon, Nichamon, Chandler, Clayton, Elliott, James, Leangsuksun, Chokchai, Ostrouchov, George, Scott, Stephen L., Engelmann, Christian

Year:

2009

Language:

english

File:

PDF, 542 KB

english, 2009

11

Impact of sex, strain, and age on blood ethanol concentration and behavioral signs of intoxication during ethanol vapor exposure

Glover, Elizabeth J., Khan, Fauzan, Clayton-Stiglbauer, Kacey, Chandler, L. Judson

Journal:

Neuropharmacology

Year:

2020

File:

PDF, 3.34 MB

2020

12

[ACM Press the 2009 workshop - Garching, Germany (2009.06.09-2009.06.09)] Proceedings of the 2009 workshop on Resiliency in high performance - Resilience '09 - Towards resilient high performance applications through real time reliability metric generation and autonomous failure correction

Chandler, Clayton F., Leangsuksun, Chokchai, DeBardeleben, Nathan

Year:

2009

Language:

english

File:

PDF, 500 KB

english, 2009

13

Caregiver’s Recall of Stroke Discharge Education Exceeds Patients and Is Associated With Greater Satisfaction

Heiberger, Caleb J., Busch, Clayton, Chandler, John, Rance, Kevin, Montieth, Brett, Hanscom, Josh, Sandhu, Guaravjot, Sandhu, Divyajot

Journal:

Journal of Patient Experience

Year:

2019

File:

PDF, 150 KB

2019

14

Caregiver’s Recall of Stroke Discharge Education Exceeds Patients and Is Associated With Greater Satisfaction

Heiberger, Caleb J., Busch, Clayton, Chandler, John, Rance, Kevin, Montieth, Brett, Hanscom, Josh, Sandhu, Guaravjot, Sandhu, Divyajot

Journal:

Journal of Patient Experience

Year:

2019

Language:

english

File:

PDF, 150 KB

english, 2019

15

Glacial geomorphology of the Skálafellsjökull foreland, Iceland: A case study of ‘annual’ moraines

Chandler, Benjamin M. P., Evans, David J. A., Roberts, David H., Ewertowski, Marek, Clayton, Alexander I.

Journal:

Journal of Maps

Year:

2015

Language:

english

File:

PDF, 2.30 MB

english, 2015

16

Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals

Kharbanda, Mira, Pilz, Daniela T., Tomkins, Susan, Chandler, Kate, Saggar, Anand, Fryer, Alan, McKay, Victoria, Louro, Pedro, Smith, Jill Clayton, Burn, John, Kini, Usha, De Burca, Anna, FitzPatrick,

Journal:

European Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 622 KB

english, 2017

17

A failure index for HPC applications

Păun, Andrei, Chandler, Clayton, Leangsuksun, Chokchai, Păun, Mihaela

Journal:

Journal of Parallel and Distributed Computing

Year:

2016

Language:

english

File:

PDF, 891 KB

english, 2016

18

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

Cuvertino, Sara, Stuart, Helen M., Chandler, Kate E., Roberts, Neil A., Armstrong, Ruth, Bernardini, Laura, Bhaskar, Sanjeev, Callewaert, Bert, Clayton-Smith, Jill, Davalillo, Cristina Hernando, Deshp

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 2.41 MB

english, 2017

19

[IEEE 2010 International Symposium on Parallel and Distributed Processing with Applications (ISPA) - Taipei, Taiwan (2010.09.6-2010.09.9)] International Symposium on Parallel and Distributed Processing with Applications - Benefits of Software Rejuvenation on HPC Systems

Naksinehaboon, Nichamon, Taerat, Narate, Leangsuksun, Chokchai, Chandler, Clayton F., Scott, Stephen L.

Year:

2010

Language:

english

File:

PDF, 679 KB

english, 2010

20

Oral-Facial-Digital Syndrome Type 1: Further Clinical and Molecular Delineation in 2 New Families

Faily, Sara, Perveen, Rahat, Chandler, Kate, Clayton-Smith, Jill

Journal:

The Cleft Palate-Craniofacial Journal

Year:

2020

File:

PDF, 655 KB

2020

21

He in a cell

Chu, P.-H., Esler, A. M., Peng, J. C., Beck, D. H., Chandler, D. E., Clayton, S., Hu, B.-Z., Ngan, S. Y., Sham, C. H., So, L. H., Williamson, S., Yoder, J.

Journal:

Physical Review C

Year:

2011

Language:

english

File:

PDF, 336 KB

english, 2011

22

Measurement of 18-Hydroxycorticosterone during Adrenal Vein Sampling for Primary Aldosteronism

Auchus, Richard J., Chandler, Donald W., Singeetham, Sarita, Chokshi, Neema, Nwariaku, Fiemu E., Dolmatch, Bart L., Holt, Shelby A., Wians, Frank H., Josephs, Shellie C., Trimmer, Clayton K., Lopera,

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2007

Language:

english

File:

PDF, 94 KB

english, 2007

23

Ligase IV syndrome can present with microcephaly and radial ray anomalies similar to Fanconi anaemia plus fatal kidney malformations

Madhu, Rajesh, Beaman, Glenda M., Chandler, Kate E., O'Sullivan, James, Urquhart, Jill E., Khan, Naz, Martindale, Elizabeth, Briggs, Tracy A., Clayton-Smith, Jill, Higgs, Jenny, Batra, Gauri, Kerr, Br

Journal:

European Journal of Medical Genetics

Year:

2020

File:

PDF, 580 KB

2020

24

Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport

Juha Kolehmainen, Graeme C.M. Black, Anne Saarinen, Kate Chandler, Jill Clayton-Smith, Ann-Liz Träskelin, Rahat Perveen, Satu Kivitie-Kallio, Reijo Norio, Mette Warburg, Jean-Pierre Fryns, Albert de l

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 832 KB

english, 2003

25

Investigating fault continuity associated with geologic carbon storage planning in the Illinois Basin

McBride, John H., William Keach, R., Wolfe, Eugene E., Leetaru, Hannes E., Chandler, Clayton K., Greenhalgh, Scott R.

Journal:

Year:

2014

Language:

english

File:

PDF, 10.29 MB

english, 2014

26

Race Differences in College Attendance in the United States: Two Competing Theories

Obie Clayton, Rodney Coates, Paula Dressel, Claudette Bennett and Karen Chandler

Journal:

Canadian Journal of Education / Revue canadienne de l éducation

Year:

1990

Language:

english

File:

PDF, 422 KB

english, 1990

27

Confirmation that mutations in DDX59 cause an autosomal recessive form of oral-facial-digital syndrome: Further delineation of the DDX59 phenotype in two new families

Faily, Sara, Perveen, Rahat, Urquhart, Jill, Chandler, Kate, Clayton-Smith, Jill

Journal:

European Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 1.33 MB

english, 2017

28

Delineation of Cohen Syndrome Following a Large-Scale Genotype-Phenotype Screen

Juha Kolehmainen, Robert Wilkinson, Anna-Elina Lehesjoki, Kate Chandler, Satu Kivitie-Kallio, Jill Clayton-Smith, Ann-Liz Träskelin, Laura Waris, Anne Saarinen, Jabbar Khan, Varda Gross-Tsur, Elias I.

Journal:

The American Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 749 KB

english, 2004

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