E-LIB Suche - Ergebnisse für: Fox, Joyce E

1

Prevention of Leber congenital amaurosis through preimplant..:

Kodsi, Sylvia R. ; Bristow, Sara L. ; Fox, Joyce E..
Journal of American Association for Pediatric Ophthalmology and Strabismus. 22 (2018) 3 - p. 240-242 , 2018

Link: https://doi.org/10.1016/..

2

First human treatment with investigational rhGUS enzyme rep..:

Fox, Joyce E. ; Volpe, Linda ; Bullaro, Josephine..
Molecular Genetics and Metabolism. 114 (2015) 2 - p. 203-208 , 2015

Link: https://doi.org/10.1016/..

3

Clinical features associated with copy number variations of..:

Rosenfeld, Jill A. ; Fox, Joyce E. ; Descartes, Maria...
American Journal of Medical Genetics Part A. 167 (2014) 2 - p. 345-353 , 2014

Link: https://doi.org/10.1002/..

4

Recombinant human β-glucuronidase enzyme replacement therap..:

Fox, Joyce E. ; Kakkis, Emil D. ; Sly, William S.
Molecular Genetics and Metabolism. 111 (2014) 2 - p. S44 , 2014

Link: https://doi.org/10.1016/..

5

Cholesteryl ester storage disease is associated with progre..:

Bernstein, Donna L. ; Edelman, Morris ; Alexis, Claudine...
Molecular Genetics and Metabolism. 111 (2014) 2 - p. S25-S26 , 2014

Link: https://doi.org/10.1016/..

6

Genotype–phenotype analysis of 4q deletion syndrome: Propos..:

Strehle, Eugen‐Matthias ; Yu, Linbo ; Rosenfeld, Jill A....
American Journal of Medical Genetics Part A. 158A (2012) 9 - p. 2139-2151 , 2012

Link: https://doi.org/10.1002/..

7

Prenatal diagnosis: cases and clinical challenges:

DiMaio, Miriam S ; Fox, Joyce E ; Mahoney, Maurice J , 2010

Link: https://onlinelibrary.wi..

8

Mutations in the facilitative glucose transporter GLUT10 al..:

Coucke, Paul J ; Willaert, Andy ; Wessels, Marja W...
Nature Genetics. 38 (2006) 4 - p. 452-457 , 2006

Link: https://doi.org/10.1038/..

9

Prenatal diagnosis of a rare inherited heterochromatic vari..:

Zaslav, Ann‐Leslie ; Pierno, Guy ; Fougner, Arthur...
American Journal of Medical Genetics Part A. 126A (2003) 4 - p. 420-422 , 2003

Link: https://doi.org/10.1002/..

10

Prenatal diagnosis of trisomy 4 mosaicism:

Zaslav, Ann-Leslie ; Blumenthal, Donna ; Willner, Judith P....
American Journal of Medical Genetics. 95 (2000) 4 - p. 381-384 , 2000

Link: https://doi.org/10.1002/..

11

Cytogenetic analysis of tissues from patients with familial..:

Zaslav, Ann‐Leslie ; Myssiorek, David ; Mucia, Christina.
Head & Neck. 17 (1995) 2 - p. 102-107 , 1995

Link: https://doi.org/10.1002/..

12

Infant with mos45,X/46,XY/47,XYY/48,XYYY: Genetic and clini..:

Fox, Joyce E. ; Blumenthal, Donna ; Brock, William...
American Journal of Medical Genetics. 59 (1995) 4 - p. 435-440 , 1995

Link: https://doi.org/10.1002/..

13

Sensorineural hearing loss, enamel hypoplasia, and nail abn..:

Heimler, Audrey ; Fox, Joyce E. ; Hershey, Joel E..
American Journal of Medical Genetics. 39 (1991) 2 - p. 192-195 , 1991

Link: https://doi.org/10.1002/..

14

Trisomy 18 with Cantrell pentalogy in a stillborn infant:

Fox, Joyce E. ; Gloster, Elizabeth S. ; Mirchandani, Raksha..
American Journal of Medical Genetics. 31 (1988) 2 - p. 391-394 , 1988

Link: https://doi.org/10.1002/..

15

List of Contributors:

, In: Gastroparesis,

Abell, Thomas ; Ahuja, Nitin K. ; Ali, M. Showkat... - p. xiii-xv , 2021

Link: https://doi.org/10.1016/..