Universal newborn screening: A roadmap for action von Howson, C.P., Cedergren, B., Giugliani, R., Huhtinen, P., Padilla, C.D., Palubiak, C.S., Santos, M.D., Schwartz, I.V.D., Therrell, B.L., Umemoto, A., Wang, J., Zeng, X., Zhao, X., Zhong, N., McCabe, E.R.B.

Volltext

Zebrafish dax1 Is Required for Development of the Interrenal Organ, the Adrenal Cortex Equivalent von Zhao, Y, Yang, Z, Phelan, J. K, Wheeler, D. A, Lin, S, McCabe, E. R. B

Volltext

A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal von Bardoni, B, Zanaria, E, Guioli, S, Floridia, G, Worley, K. C, Tonini, G, Ferrante, E, Chiumello, G, McCabe, E. R. B, Fraccaro, M, Zuffardi, O, Camerino, G

Volltext

Mouth cell collection device for newborn mice von Zhang, Y.-H., Huang, B.-L., Eastman, K., McCabe, L.L., MacLennan, N.K., McCabe, E.R.B.

Volltext

Completely self-contained cell culture system: From storage to use von Bhardwaj, Urvashi, Zhang, Y.-H., Rangwala, Zakir, McCabe, E.R.B.

Volltext

Corrigendum to Universal newborn screening: A roadmap for action molecular genetics and metabolism 124 (2018) 177–183 von Howson, C.P., Cedergren, B., Giugliani, R., Huhtinen, P., Padilla, C.D., Palubiak, C.S., Santos, M.D., Schwartz, I.V.D., Therrell, B.L., Umemoto, A., Wang, J., Zeng, X., Zhao, X., Zhong, N., McCabe, E.R.B.

Volltext

An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita von Zanaria, Elena, Muscatelli, Françoise, Bardoni, Barbara, Strom, Tim M, Guioli, Silvana, Guo, Weiwen, Lalli, Enzo, Moser, Claudio, Walker, Ann P, McCabe, Edward R. B, Meitinger, Thomas, Monaco, Anthony P, Sassone-Corsi, Paolo, Camerino, Giovanna

Volltext

DAX1 origin, function, and novel role von Niakan, K.K., McCabe, E.R.B.

Volltext

IMAGe, a New Clinical Association of Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies von Vilain, Eric, Le Merrer, Martine, Lecointre, Claudine, Desangles, Francois, Kay, Mark A, Maroteaux, Pierre, McCabe, Edward R. B

Volltext

Cloning and functional expression in yeast of two human isoforms of the outer mitochondrial membrane channel, the voltage-dependent anion channel von BLACHLY-DYSON, E, BRYGIDA ZAMBRONICZ, E, WEI HONG YU, ADAMS, V, MCCABE, E. R. B, ADELMAN, J, COLOMBINI, M, FORTE, M

Volltext

Vulnerability within a Robust Complex System--DAX-1 Mutations and Steroidogenic Axis Development von McCabe, E. R. B.

Volltext

Amplification of bacterial DNA using highly conserved sequences : automated analysis and potential for molecular triage of sepsis von MCCABE, K. M, KHAN, G, YAO-HUA ZHANG, MASON, E. O, MCCABE, E. R. B

Volltext

Gene therapy for murine glycerol kinase deficiency: Importance of murine ortholog von Kuwada, N., Nagano, K., MacLennan, N., Havens, J., Kumar, M., Dipple, K.M., McCabe, E.R.B.

Volltext

DAX1 Mutations Map to Putative Structural Domains in a Deduced Three-Dimensional Model von Zhang, Yao-Hua, Guo, Weiwen, Wagner, Richard L., Huang, Bing-Ling, McCabe, Linda, Vilain, Eric, Burris, Thomas P., Anyane-Yeboa, Kwame, Burghes, Arthur H.M., Chitayat, David, Chudley, Albert E., Genel, Myron, Gertner, Joseph M., Klingensmith, Georgeanna J., Levine, Steven N., Nakamoto, Jon, New, Maria I., Pagon, Roberta A., Pappas, John G., Quigley, Charmian A., Rosenthal, Ira M., Baxter, John D., Fletterick, Robert J., McCabe, Edward R.B.

Volltext

Minipuberty of infancy and adolescent pubertal function in adrenal hypoplasia congenita von Kaiserman, Kevin B., Nakamoto, Jon M., Geffner, Mitchell E., McCabe, Edward R.B.

Volltext

Genomic sequence of the DAX1 gene : An orphan nuclear receptor responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism von GUO, W, BURRIS, T. P, ZHANG, Y.-H, HUANG, B.-L, MASON, J, COPELAND, K. C, KUPFER, S. R, PAGON, R. A, MCCABE, E. R. B

Volltext

The management of breast feeding among infants with phenylketonuria von McCabe, L., Ernest, A. E., Neifert, M. R., Yannicelli, S., Nord, A. M., Garry, P. J., McCabe, E. R. B.

Volltext

Genetic network identification by high density, multiplexed reversed transcriptional (HD-MRT) analysis in steroidogenic axis model cell lines von Clipsham, R, Zhang, Y.-H, Huang, B.-L, McCabe, E.R.B

Volltext

A Dosage Sensitive Locus at Chromosome Xp21 Is Involved in Male to Female Sex Reversal von Bardoni, B, Zanaria, E, Guioli, S, Floridia, G, Worley, K. C, Tonini, G, Ferrante, E, Chiumello, G, McCabe, E. R. B, Fraccaro, M, Zuffardi, O, Camerino, G

Volltext

Galactosaemia with fatal cerebral oedema von Perelmuter, B., Goodman, S. I., McCabe, E. R. B.

Volltext