Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Christine Hertenstein"'
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101695- (2024)
Externí odkaz:
https://doaj.org/article/2a17d8ffae2749b3926a69a475db1efc
Autor:
Bobby Brar, Michael Leeson, Cathleen Lawson, Gerald Raymond, Karin Blakemore, Christine Hertenstein, Kristen (Leppert) Miller, Sabrina Southwick, Carol Nowlen, Angie Jelin
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100659- (2023)
Externí odkaz:
https://doaj.org/article/30a11308b0ea46b9adbf2027a870476a
Autor:
Natalie M. Beck, Katelynn G. Sagaser, Cathleen S. Lawson, Christine Hertenstein, Ashley Jachens, Katherine R. Forster, Kristen A. Miller, Angie C. Jelin, Karin J. Blakemore, Julie Hoover‐Fong
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 1, Pp n/a-n/a (2023)
Abstract Hypophosphatasia (HPP) is an underrecognized, complex bone mineralization disorder with variable manifestations caused by one or two deleterious variants in the alkaline phosphatase (ALPL) gene. Expanded carrier screening (ECS), inclusive of
Externí odkaz:
https://doaj.org/article/e1750050062b436c8d1f51dc91e06db3
Autor:
Natalie M. Beck, Katelynn G. Sagaser, Cathleen S. Lawson, Christine Hertenstein, Ashley Jachens, Katherine R. Forster, Kristen A. Miller, Angie C. Jelin, Karin J. Blakemore, Julie Hoover‐Fong
Publikováno v:
Molecular geneticsgenomic medicineREFERENCES.
Hypophosphatasia (HPP) is an underrecognized, complex bone mineralization disorder with variable manifestations caused by one or two deleterious variants in the alkaline phosphatase (ALPL) gene. Expanded carrier screening (ECS), inclusive of ALPL, in
Autor:
Bobby Brar, Karin Blakemore, Christine Hertenstein, Jena L. Miller, Kristen Miller, Hanan Shamseldin, Fowzan Alkuraya, Billie R. Lianoglou, Teresa N. Sparks, Mary E. Norton, Angie Jelin
Publikováno v:
American Journal of Obstetrics and Gynecology. 228:S274