Deep Blue: Browsing Human Genetics, Department of by Title

Quantitative genetic variation in carbonic anhydrase isozymes from tissues of the pig-tailed macaque, Macaca nemestrina

Tashian, Richard E.; Headings, Verle E. (Kluwer Academic Publishers-Plenum Publishers; Plenum Publishing Corporation ; Springer Science+Business Media, 1971-08)

(768.4KB)

R726L androgen receptor mutation is uncommon in prostate cancer families in the united states

Gruber, Stephen B.; Chen, Hong; Tomsho, Lynn P.; Lee, Nana; Perrone, Erin E.; Cooney, Kathleen A. (Wiley Subscription Services, Inc., A Wiley Company, 2003-03-01)

(118KB)

A Radiation Hybrid Map of the BRCA1 Region of Chromosome 17q12-q21

Abel, Kenneth J.; Boehnke, Michael; Prahalad, Murali; Ho, Peggy P.; Flejter, Wendy L.; Watkins, Melanie; VanderStoep, Jill; Chandrasekharappa, Settara C.; Collins, Francis S.; Glover, Thomas W.; Weber, Barbara L. (Elsevier, 1993-09)

(599.1KB)

A radioimmunoassay for quantifying carbonic anhydrase isozymes in crude lysates

Tashian, Richard E.; Headings, Verle E. (Kluwer Academic Publishers-Plenum Publishers; Plenum Publishing Corporation ; Springer Science+Business Media, 1970-04)

(551.7KB)

A rapid electrophoretic technique for human and Chinese hamster galactokinase

Sun, N. C.; Chang, C. C.; Chu, Ernest H. Y. (Springer-Verlag, 1975-12)

(165.8KB)

Reactivation and immunological studies on a japanese variant of red cell carbonic anhydrase I, CA I hiroshima-1

Kageoka, Takeshi; Tashian, Richard E. (Elsevier, 1982)

(524.3KB)

Recombinational circularization of Salmonella phage P22 DNA

Weaver, Steven; Levine, Myron (Elsevier, 1977-01)

(887.8KB)

Recurrent 1q21.1 deletion syndrome: Report on variable expression, nonpenetrance and review of literature

Upadhyai, P; Amiri, EF; Guleria, VS; Bielas, SL; Girisha, KM; Shukla, A (Wolters Kluwer, 2020-07-01)

(374.5KB)

Refined localization of human connexin32 gene locus, GJB1, to Xq13.1

Corcos, Isabel A.; Lafreniere, Ronald G.; Begy, Catherine R.; Loch-Caruso, Rita; Willard, Huntington F.; Glover, Thomas W. (Elsevier, 1992-06)

(626.1KB)

Regional chromosomal localization of the human gene for galactose-1-phosphate uridyltransferase

Sun, N. C.; Chu, Ernest H. Y.; Sun, C. R. Y. (Springer-Verlag, 1977-01)

(375.9KB)

Regulation of insulin responsiveness in rat hepatoma cells

Heaton, Joanne H.; Gelehrter, Thomas D. (Elsevier, 1980-02-12)

(455.2KB)

Regulation of insulin-like growth factor-II expression and its role in autocrine growth of human neuroblastoma cells

Martin, Donna M.; Feldman, Eva L. (Wiley Subscription Services, Inc., A Wiley Company, 1993-05)

(1.2MB)

The relationship between fetal hemoglobin and disease severity in children with sickle cell anemia

Odenheimer, Daniel J.; Sarnaik, Sharada A.; Whitten, Charles F.; Rucknagel, Donald L.; Sing, Charles F. (Wiley Subscription Services, Inc., A Wiley Company, 1987-07)

(723.2KB)

The Relative Merits of Population-Based and Targeted Prevention Strategies

Zulman, Donna M.; Vijan, Sandeep; Omenn, Gilbert S.; Hayward, Rodney A. (Blackwell Publishing Inc, 2008-12)

(155.5KB)

The Remarkable Evolutionary History of the Human Amylase Genes

Meisler, Miriam H.; Ting, Chao-Nan (SAGE Publications, 1993)

(577.1KB)

Replication in situ and DNA encapsulation following induction of an excision-defective lysogen of Salmonella bacteriophage P22

Weaver, Steven; Levine, Myron (Elsevier, 1978-01-25)

(2MB)

Replication of genetic associations as pseudoreplication due to shared genealogy

Rosenberg, Noah A.; Van Liere, Jenna M. (Wiley Subscription Services, Inc., A Wiley Company, 2009-09)

(495.6KB)

Retrotransposons and the evolution of mammalian gene expression

Robins, Diane M.; Samuelson, Linda C. (Kluwer Academic Publishers; Springer Science+Business Media, 1992-01)

(978.9KB)

Reversibility of Serum Removal Effects on IGF-II mRNA in Human Neuroblastoma Cells

Martin, Donna M.; Feldman, Eva L. (Blackwell Publishing Ltd, 1993-08)

(327.1KB)

Risk Estimation and Value-of-Information Analysis for Three Proposed Genetic Screening Programs for Chronic Beryllium Disease Prevention

Bartell, Scott M.; Ponce, Rafael A.; Takaro, Timothy K.; Zerbe, Richard O.; Omenn, Gilbert S.; Faustman, Elaine M. (Blackwell Publishers Inc., 2000-02)

(143KB)

Risk perception and concern among brothers of men with prostate carcinoma

Beebe-Dimmer, Jennifer L.; Wood, David P.; Gruber, Stephen B.; Chilson, Doug M.; Zuhlke, Kimberly A.; Claeys, Gina B.; Cooney, Kathleen A. (Wiley Subscription Services, Inc., A Wiley Company, 2004-04-01)

(114.3KB)

The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia How to cite this article: Dimmock DP, Trapane P, Feigenbaum A, Keegan CE, Cederbaum S, Gibson J, Gambello MJ, Vaux K, Ward P, Rice GM, Wolff JA, O'Brien WE, Fang P. 2008. The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia. Am J Med Genet Part A.

Dimmock, David P.; Trapane, Pamela; Feigenbaum, Annette; Keegan, Catherine E.; Cederbaum, Stephen; Gibson, James; Gambello, Michael J.; Vaux, Keith; Ward, Patricia; Rice, Gregory M.; Wolff, Jon A.; O'Brien, William E.; Fang, Ping (Wiley Subscription Services, Inc., A Wiley Company, 2008-11-15)

(69KB)

The role of the apolipoprotein E polymorphism in the prediction of coronary artery disease age of onset

Moore, Jason H.; Reilly, Sharon L.; Ferrell, Robert E.; Sing, Charles F. (Blackwell Publishing Ltd, 1997-01)

(379KB)

Runx1 expression defines a subpopulation of displaced amacrine cells in the developing mouse retina

Stewart, Lee; Potok, Mary Anne; Camper, Sally A.; Stifani, Stefano (Blackwell Science Ltd, 2005-09)

(478.3KB)

SCNN1, an Epithelial Cell Sodium Channel Gene in the Conserved Linkage Group on Mouse Chromosome 6 and Human Chromosome 12

Meisler, Miriam H.; Barrow, Lon L.; Canessa, Cecilia M.; Rossier, Bernard C. (Elsevier, 1994-11-01)

(138.3KB)