Hefner, Margaret A.: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

Don't use scam websites

1

Spectrum of CHD7 Mutations in 110 Individuals with CHARGE Syndrome and Genotype-Phenotype Correlation

Seema R. Lalani, Arsalan M. Safiullah, Susan D. Fernbach, Karine G. Harutyunyan, Christina Thaller, Leif E. Peterson, John D. McPherson, Richard A. Gibbs, Lisa D. White, Margaret Hefner, Sandra L.H. D

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 538 KB

english, 2006

2

Exclusion of PITX2 mutations as a major cause of CHARGE association

Donna M. Martin, Frank J. Probst, Sharon E. Fox, Lisa A. Schimmenti, Elena V. Semina, Margaret A. Hefner, John W. Belmont, Sally A. Camper

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 66 KB

english, 2002

3

Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions

Seema R. Lalani, David W. Stockton, Carlos Bacino, Laura M. Molinari, Nancy L. Glass, Susan D. Fernbach, Jeffrey A. Towbin, William J. Craigen, John M. Graham Jr, Margaret A. Hefner, Angela E. Lin, Ki

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 170 KB

english, 2003

4

Behavior in CHARGE syndrome: Introduction to the special topic

Timothy S. Hartshorne, Margaret A. Hefner, Sandra L.H. Davenport

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 56 KB

english, 2005

5

Use of an expert model to test diagnostic criteria in CHARGE syndrome

Joyce A. Mitchell, Sandra L. H. Davenport, Margaret A. Hefner, Monli Molly Shei

Journal:

Journal of Medical Systems

Year:

1985

Language:

english

File:

PDF, 909 KB

english, 1985

6

The spectrum of clinical features in CHARGE syndrome

Sandra L. H. Davenport, Margaret A. Hefner, Joyce A. Mitchell

Journal:

Clinical Genetics

Year:

1986

Language:

english

File:

PDF, 889 KB

english, 1986

7

Understanding obstructive sleep apnea in children with CHARGE syndrome

Carrie-Lee Trider, Gerard Corsten, Debra Morrison, Margaret Hefner, Sandra Davenport, Kim Blake

Journal:

International Journal of Pediatric Otorhinolaryngology

Year:

2012

Language:

english

File:

PDF, 221 KB

english, 2012

8

CHARGE syndrome. Part I. External ear anomalies

Sandra L.H. Davenport, Margaret A. Hefner, James W. Thelin

Journal:

International Journal of Pediatric Otorhinolaryngology

Year:

1986

Language:

english

File:

PDF, 6.25 MB

english, 1986

9

CHARGE Syndrome. Part II. Hearing loss

James W. Thelin, Joyce A. Mitchell, Margaret A. Hefner, Sandra L.H. Davenport

Journal:

International Journal of Pediatric Otorhinolaryngology

Year:

1986

Language:

english

File:

PDF, 915 KB

english, 1986

10

Dominant Charge association

Mitchell, Joyce A., Giangiacomo, Joseph, Hefner, Margaret A., Thelin, James W., Pickens, James M.

Journal:

Ophthalmic Genetics

Year:

1985

Language:

english

File:

PDF, 718 KB

english, 1985

11

Melperone but not bisoprolol or metoprolol is a clinically relevant inhibitor of CYP2D6: evidence from a therapeutic drug monitoring survey

Hefner, Gudrun, Unterecker, Stefan, Shams, Mohamed E. E., Wolf, Margarete, Falter, Tanja, Haen, Ekkehard, Hiemke, Christoph

Journal:

Journal of Neural Transmission

Year:

2015

Language:

english

File:

PDF, 485 KB

english, 2015

12

12th International CHARGE syndrome conference proceedings

Martin, Donna M., Salem-Hartshorne, Nancy, Hartshorne, Timothy S., Scacheri, Peter C., Hefner, Margaret A.

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 176 KB

english, 2016

13

Genetic counseling in CHARGE syndrome: Diagnostic evaluation through follow up

Hefner, Margaret A., Fassi, Emily

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2017

Language:

english

File:

PDF, 840 KB

english, 2017

14

Genetic analysis of CHARGE syndrome identifies overlapping molecular biology

Moccia, Amanda, Srivastava, Anshika, Skidmore, Jennifer M, Bernat, John A, Wheeler, Marsha, Chong, Jessica X, Nickerson, Deborah, Bamshad, Michael, Hefner, Margaret A, Martin, Donna M, Bielas, Stephan

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 416 KB

english, 2018