OpenURL Connection Search

Select item for more details and to access through your institution.

Newborn screening for Pompe disease: Parental experiences and follow‐up care for a late‐onset diagnosis.
Published in:
Journal of Genetic Counseling, 2022, v. 31, n. 6, p. 1404, doi. 10.1002/jgc4.1615
By:
- Prakash, Supraja;
- Penn, Jeremy D.;
- Jackson, Kelly E.;
- Dean, Lori Williamson
Publication type:
Article
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2–p12.2.
Published in:
Nature Genetics, 2007, v. 39, n. 9, p. 1071, doi. 10.1038/ng2107
By:
- Ballif, Blake C.;
- Hornor, Sara A.;
- Jenkins, Elizabeth;
- Madan-Khetarpal, Suneeta;
- Surti, Urvashi;
- Jackson, Kelly E.;
- Asamoah, Alexander;
- Brock, Pamela L.;
- Gowans, Gordon C.;
- Conway, Robert L.;
- Graham Jr., John M.;
- Medne, Livija;
- Zackai, Elaine H.;
- Shaikh, Tamim H.;
- Geoghegan, Joel;
- Selzer, Rebecca R.;
- Eis, Peggy S.;
- Bejjani, Bassem A.;
- Shaffer, Lisa G.
Publication type:
Article
The Mouse Intestinal Fatty Acid Binding Protein Gene: Nucleotide Sequence, Pattern of Developmental and Regional Expression, and Proposed Structure of Its Protein Product.
Published in:
DNA & Cell Biology, 1992, v. 11, n. 1, p. 31, doi. 10.1089/dna.1992.11.31
By:
- GREEN, REBECCA P.;
- COHN, STEVEN M.;
- SACCHETTINI, JAMES C.;
- JACKSON, KELLY E.;
- GORDON, JEFFREY I.
Publication type:
Article
Diagnosis of Classic Homocystinuria in Two Boys Presenting with Acute Cerebral Venous Thrombosis and Neurologic Dysfunction after Normal Newborn Screening.
Published in:
International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030048
By:
- Asamoah, Alexander;
- Sainan Wei;
- Jackson, Kelly E.;
- Hersh, Joseph H.;
- Levy, Harvey
Publication type:
Article

Found: 4

Newborn screening for Pompe disease: Parental experiences and follow‐up care for a late‐onset diagnosis.

Discovery of a previously unrecognized microdeletion syndrome of 16p11.2–p12.2.

The Mouse Intestinal Fatty Acid Binding Protein Gene: Nucleotide Sequence, Pattern of Developmental and Regional Expression, and Proposed Structure of Its Protein Product.

Diagnosis of Classic Homocystinuria in Two Boys Presenting with Acute Cerebral Venous Thrombosis and Neurologic Dysfunction after Normal Newborn Screening.