Permanent Neonatal Diabetes in a Patient with a KCNJ11/Q52R Mutation Accompanied by Intermittent Hypoglycemia and Liver Failure

por Shaw, Natalie D., Majzoub, Joseph A.
Publicado 2009

A ubiquitin-like domain is required for stabilizing the N-terminal ATPase module of human SMCHD1

por Pedersen, Lars C., Inoue, Kaoru, Kim, Susan, Perera, Lalith, Shaw, Natalie D.
Publicado 2019

Central precocious puberty in Boston boys: A 10-year single center experience

por Topor, Lisa Swartz, Bowerman, Kimberly, Machan, Jason T., Gilbert, Courtney L., Kangarloo, Tairmae, Shaw, Natalie D.
Publicado 2018

Cholesterol biosynthesis modulates differentiation in murine cranial neural crest cells

por Pascual, Florencia, Icyuz, Mert, Karmaus, Peer, Brooks, Ashley, Van Gorder, Elizabeth, Fessler, Michael B., Shaw, Natalie D.
Publicado 2023

OR14-4 Acute sleep disruption does not diminish pulsatile growth hormone secretion in pubertal children

por Amin, Rafiul, Faghih, Rose T, Genty, Jon, Kangarloo, Tairmae, Klerman, Elizabeth B, Molsberry, Samantha, Shaw, Natalie D, Calvert, Madison
Publicado 2022

Hypoglycemia in patients with congenital muscle disease

por Hayes, Leslie H., Yun, Pomi, Mohassel, Payam, Norato, Gina, Donkervoort, Sandra, Leach, Meganne E., Alvarez, Rachel, Rutkowski, Anne, Shaw, Natalie D., Foley, A. Reghan, Bönnemann, Carsten G.
Publicado 2020

Investigation of the adolescent female breast transcriptome and the impact of obesity

por Burkholder, Adam, Akrobetu, Dennis, Pandiri, Arun R., Ton, Kiki, Kim, Sue, Labow, Brian I., Nuzzi, Laura C., Firriolo, Joseph M., Schneider, Sallie S., Fenton, Suzanne E., Shaw, Natalie D.
Publicado 2020

MON-031 A Gene Expression Profile of the Adolescent Breast and the Impact of Obesity

por Akrobetu, Dennis Y, Burkholder, Adam B, Ton, Thai-Vu T, Kim, Susan, Pandiri, Arun, Labow, Brian I, Nuzzi, Laura C, Firriolo, Joseph M, Schneider, Sallie S, Fenton, Suzanne E, Shaw, Natalie D
Publicado 2020

Early breast development in overweight girls: does estrogen made by adipose tissue play a role?

por Carlson, Lauren, Flores, Vanessa, Sun, Bob Z., Mosley, Brittany, Kirste, Imke, Rice, Annette, Sridhar, Rithi, Kangarloo, Tairmae, Vesper, Hubert W, Duke, Lumi, Botelho, Julianne C, Filie, Armando C, Adams, Judy M, Shaw, Natalie D.
Publicado 2019

DUX4 double whammy: The transcription factor that causes a rare muscular dystrophy also kills the precursors of the human nose

por Inoue, Kaoru, Bostan, Hamed, Browne, MaKenna R., Bevis, Owen F., Bortner, Carl D., Moore, Steven A., Stence, Aaron A., Martin, Negin P., Chen, Shih-Heng, Burkholder, Adam B., Li, Jian-Liang, Shaw, Natalie D.
Publicado 2023

LBMON114 Enrichment Of Rare Sequence Variants In Genes That Communicate Metabolic Signals To The GnRH System In Hypothalamic Amenorrhea

por Brown, Ethan, Shekhar, Skand, Delaney, Angela, Burkholder, Adam B, Plummer, Lacey, Mericq, Veronica, Merino, Paulina M, Quinton, Richard, Lewis, Katie L, Shaw, Natalie D, Welt, Corrine K, Martin, Kathryn A, Seminara, Stephanie B, Biesecker, Leslie G, Motsinger-Reif, Alison, House, John S, Hall, Janet
Publicado 2022