Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts

Authors: Elizabeth E. Blue, Samuel J. Huang, Alyna Khan, Katie Golden-Grant, Brenna Boyd, Elisabeth A. Rosenthal, Madelyn A. Gillentine, Leah R. Fleming, David R. Adams, Lynne Wolfe, Aimee Allworth, Michael J. Bamshad, Nikeisha J. Caruana, Sirisak Chanprasert, Jingheng Chen, Nitsuh Dargie, Daniel Doherty, Marisa W. Friederich, Fuki M. Hisama, Martha Horike-Pyne, Jessica C. Lee, Tonia E. Donovan, Daniella H. Hock, Kathleen A. Leppig, Danny E. Miller, Ghayda Mirzaa, Jane Ranchalis, Wendy H. Raskind, Cole R. Michel, Richard Reisdorph, Ulrike Schwarze, Sam Sheppeard, Samuel Strohbehn, David A. Stroud, Virginia P. Sybert, Mark H. Wener, Andrew B. Stergachis, Christina T. Lam, Gail P. Jarvik, Katrina M. Dipple, Johan L.K. Van Hove, Ian A. Glass

Source: Rare, Vol 2, Iss , Pp 100040- (2024)

Subject Terms: UQCRFS1, GJA8, mitochondrial complex III, alopecia, cataracts, rare disease, Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2950008724000231; https://doaj.org/toc/2950-0087

Access URL: https://doaj.org/article/93c294e07b004efca6d7414223356227

Multicolor labeling of airway neurons and analysis of parasympathetic heterogeneity

Authors: Alexandra B. Pincus, Samuel J. Huang, Katie M. Lebold, Ubaldo De La Torre, Becky J. Proskocil, Matthew G. Drake, Hiroyuki Nakai, Allison D. Fryer, David B. Jacoby

Source: Scientific Reports, Vol 12, Iss 1, Pp 1-8 (2022)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/82e9296bdbf147ce882dcf05e2ab00fe

This result is not displayed to guests.
Login for full access.

Synthesis of poly(amide‐ester)s by microwave methods.

Authors: Anna Borriello¹, Luigi Nicolais¹, Xiaomei Fang², Samuel J. Huang², Daniel A. Scola²

Source: Journal of Applied Polymer Science; Feb2007, Vol. 103 Issue 3, p1952-1958, 7p

Poly(amide-ester)s derived from dicarboxylic acid and aminoalcohol.

Authors: Anna Borriello, Luigi Nicolais, Samuel J. Huang

Source: Journal of Applied Polymer Science; Jan2005, Vol. 95 Issue 2, p362-368, 7p