Lose, Edward : rechercher sur Z-Library

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1

A case report of chromosome 17q22-qter trisomy with distinct clinical presentation and review of the literature

Upadia, Jariya, Philips, Joseph B., Robin, Nathaniel H., Lose, Edward J., Mikhail, Fady M.

Journal:

Clinical Case Reports

Année:

2018

Langue:

english

Fichier:

PDF, 1.09 MB

english, 2018

2

The use by Alabama pediatricians of genetics consultation in the evaluation of developmental delay

Min-Jye Chen, Cheryl L. Holt, Edward J. Lose, Nathaniel H. Robin

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 71 KB

english, 2008

3

Molecular cytogenetic characterization of two cases with constitutional distal 11q duplication/triplication

Rachel D. Burnside, Edward J. Lose, Maria G. Domínguez, Jose Sánchez-Corona, Horacio Rivera, Andrew J. Carroll, Fady M. Mikhail

Journal:

American Journal of Medical Genetics Part A

Année:

2009

Langue:

english

Fichier:

PDF, 239 KB

english, 2009

4

Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders

Fady M. Mikhail, Edward J. Lose, Nathaniel H. Robin, Maria D. Descartes, Katherine D. Rutledge, S. Lane Rutledge, Bruce R. Korf, Andrew J. Carroll

Journal:

American Journal of Medical Genetics Part A

Année:

2011

Langue:

english

Fichier:

PDF, 552 KB

english, 2011

5

BMP4loss-of-function mutations in developmental eye disorders including SHORT syndrome

Linda M. Reis, Rebecca C. Tyler, Kala F. Schilter, Omar Abdul-Rahman, Jeffrey W. Innis, Beth A. Kozel, Adele S. Schneider, Tanya M. Bardakjian, Edward J. Lose, Donna M. Martin, Ulrich Broeckel, Elena

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 1.96 MB

english, 2011

6

Chromosome mapping of the murine syndecan gene

Oettinger, Henry F., Streeter, Heather, Lose, Edward, Copeland, Neal G., Gilbert, Debra J., Justice, Monica J., Jenkins, Nancy A., Mohandas, T., Bernfield, Merton

Journal:

Année:

1991

Langue:

english

Fichier:

PDF, 530 KB

english, 1991

7

Angiotensin-converting enzyme inhibitors: importance of the amide carbonyl of mercaptoacyl amino acids for hydrogen bonding to the enzyme

Condon, Michael E., Petrillo, Edward W., Ryono, Denis E., Reid, Joyce A., Neubeck, Richard, Puar, Mohindar, Heikes, James E., Sabo, Emily F., Losee, Kathryn A.

Journal:

Journal of Medicinal Chemistry

Année:

1982

Langue:

english

Fichier:

PDF, 1.19 MB

english, 1982

8

III. Some Substituted Sulfanilamidopyridines

Bernstein, Jack, Pribyl, Edward J., Losee, Kathryn, Lott, W. A.

Journal:

Journal of the American Chemical Society

Année:

1947

Langue:

english

Fichier:

PDF, 373 KB

english, 1947

9

Reviews of teaching/learning resources

Pappas, Edward J., Boileau, Don M., Losee, Doug, Graves, Pat, Wolvin, Andrew, VanOosting, James, Balfantz, Gary Leonard, Bliss, Lynn S., Cheney, George, Tompkins, Phillip K., Roberts, Mary M.

Journal:

Communication Education

Année:

1983

Langue:

english

Fichier:

PDF, 752 KB

english, 1983

10

AsktheGeneticistSM: five years of online experience

Tesla, Catherine, Korf, Bruce R, Holt, Lynn, Prucka, Sandra, Robin, Nathaniel H, Descartes, Maria, Lose, Edward, Stembridge, Adrya, Epstein, Michael, Warren, Stephen

Journal:

Genetics in Medicine

Année:

2009

Langue:

english

Fichier:

PDF, 316 KB

english, 2009

11

Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States

Miller, Marcus J., Burrage, Lindsay C., Gibson, James B., Strenk, Meghan E., Lose, Edward J., Bick, David P., Elsea, Sarah H., Sutton, V. Reid, Sun, Qin, Graham, Brett H., Craigen, William J., Zhang,

Journal:

Molecular Genetics and Metabolism

Année:

2015

Langue:

english

Fichier:

PDF, 734 KB

english, 2015

12

Feeding melatonin enhances the phase shifting response to triazolam in both young and old golden hamsters

Kolker, Daniel E., Losee Olson, Susan, Dutton-Boilek, Jeanette, Bennett, Katherine M., Wallen, Edward P., Horton, Teresa H., Turek, Fred W.

Journal:

AJP Regulatory Integrative and Comparative Physiology

Année:

2002

Langue:

english

Fichier:

PDF, 106 KB

english, 2002

13

Viscoelastic Assessment of Anal Canal Function Using Acoustic Reflectometry

Mitchell, Peter J., Klarskov, Niels, Telford, Karen J., Hosker, Gordon L., Lose, Gunnar, Kiff, Edward S.

Journal:

Diseases of the Colon & Rectum

Année:

2012

Langue:

english

Fichier:

PDF, 343 KB

english, 2012

14

The emerging role of primary care in genetics

Journal:

Current Opinion in Pediatrics

Année:

2008

Langue:

english

Fichier:

PDF, 105 KB

english, 2008

15

Caring for adults with pediatric genetic diseases: a growing need

Lose, Edward J, Robin, Nathaniel H

Journal:

Current Opinion in Pediatrics

Année:

2007

Langue:

english

Fichier:

PDF, 53 KB

english, 2007

16

Anal Acoustic Reflectometry: A New Reproducible Technique Providing Physiological Assessment of Anal Sphincter Function

Mitchell, Peter J., Klarskov, Niels, Telford, Karen J., Hosker, Gordon L., Lose, Gunnar, Kiff, Edward S.

Journal:

Diseases of the Colon & Rectum

Année:

2011

Langue:

english

Fichier:

PDF, 795 KB

english, 2011

17

Severe Pediatric Midface Trauma

Davidson, Edward H., Schuster, Lindsay, Rottgers, S. Alex, Smith, Darren M., Naran, Sanjay, Goldstein, Jesse A., Losee, Joseph E.

Journal:

Journal of Craniofacial Surgery

Année:

2015

Langue:

english

Fichier:

PDF, 730 KB

english, 2015

18

Eliciting preferences on secondary findings: the Preferences Instrument for Genomic Secondary Results

Brothers, Kyle B., East, Kelly M., Kelley, Whitley V., Wright, M. Frances, Westbrook, Matthew J., Rich, Carla A., Bowling, Kevin M., Lose, Edward J., Bebin, E. Martina, Simmons, Shirley, Myers, John A

Journal:

Genetics in Medicine

Année:

2016

Langue:

english

Fichier:

PDF, 772 KB

english, 2016

19

Clinical relevance of small copy-number variants in chromosomal microarray clinical testing

Hollenbeck, Dana, Williams, Crescenda L., Drazba, Kathryn, Descartes, Maria, Korf, Bruce R., Rutledge, S. Lane, Lose, Edward J., Robin, Nathaniel H., Carroll, Andrew J., Mikhail, Fady M.

Journal:

Genetics in Medicine

Année:

2016

Langue:

english

Fichier:

PDF, 3.08 MB

english, 2016

20

A Treatment Algorithm for Patients Presenting with Sagittal Craniosynostosis after the Age of 1 Year

Ruane, Edward J., Garland, Catharine B., Camison, Liliana, Fenton, Regina A., Nischal, Ken K., Pollack, Ian F., Tamber, Mandeep S., Grunwaldt, Lorelei J., Losee, Joseph E., Goldstein, Jesse A.

Journal:

Plastic & Reconstructive Surgery

Année:

2017

Langue:

english

Fichier:

PDF, 940 KB

english, 2017

21

ER and PR expression and survival after endometrial cancer

Smith, Deborah, Stewart, Colin J.R., Clarke, Edward M., Lose, Felicity, Davies, Claire, Armes, Jane, Obermair, Andreas, Brennan, Donal, Webb, Penelope M., Nagle, Christina M., Spurdle, Amanda B.

Journal:

Gynecologic Oncology

Année:

2017

Langue:

english

Fichier:

PDF, 430 KB

english, 2017

22

Schaaf-Yang syndrome overview: Report of 78 individuals

McCarthy, John, Lupo, Philip J., Kovar, Erin, Rech, Megan, Bostwick, Bret, Scott, Daryl, Kraft, Katerina, Roscioli, Tony, Charrow, Joel, Schrier Vergano, Samantha A., Lose, Edward, Smiegel, Robert, La

Journal:

American Journal of Medical Genetics Part A

Année:

2018

Langue:

english

Fichier:

PDF, 1.46 MB

english, 2018

23

Menkes disease complicated by concurrent Koolen-de Vries syndrome (17q21.31 deletion)

Woodfin, Taylor, Stoops, Christine, Philips, Joseph B., Lose, Edward, Mikhail, Fady M., Hurst, Anna

Journal:

Molecular Genetics & Genomic Medicine

Année:

2019

Langue:

english

Fichier:

PDF, 581 KB

english, 2019