Results 291 to 300 of about 75,903 (304)

Partial 17alpha-hydroxylase/17,20-lyase deficiency–clinical report of five Chinese 46,XX cases

Gynecological Endocrinology, 2008
Qinjie Tian
exaly  

Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine
Jerry Vockley
exaly  

The ratio of second- and fourth-digit lengths and congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Early Human Development, 2002
exaly  

21-Hydroxylase Deficiency, Classical

2004
Shankar Kanumakala, Garry L. Warne
openaire   +1 more source

Steroid 21-Hydroxylase Deficiency

2009
Alexander K. C. Leung, Cham Pion Kao, Andrew L. Wong, Alexander K. C. Leung, Thomas Kolter, Ute Schepers, Konrad Sandhoff, Ute Schepers, Thomas Kolter, Konrad Sandhoff, Ute Schepers, Thomas Kolter, Konrad Sandhoff, Ute Schepers, Thomas Kolter, Konrad Sandhoff, Bennett Myers, David N. Herrmann, Vikram K. Mahajan, Nand Lal Sharma, Surender Kashyap, C. Ronald Scott, Natalie Gall, Katrin Welt, Karin Scharffetter-Kochanek, Matthew Harries, Tobias Fischer, Ralf Paus, Cornelius F. Boerkoel, Leah I. Elizondo, Thomas Lücke, Markus M. Nöthen, Marcella Rietschel, Undine E. Lang, Sophie Nicole, Bertrand Fontaine, Alexander K. C. Leung, William Lane M. Robson, Thomas Krieg, Julia Weihrauch, Sergio A. Jimenez, Hugo Ten Cate, Itshak Zusman, Pavel Gurevich, Herzl Ben-Hur, Jutta Keller, Jiri Litzman, Yaofeng Zhao, Lennart Hammarstöm, Margherita Bergomi, Carlotta Malagoli, Marco Vinceti, Margherita Bergomi, Carlotta Malagoli, Marco Vinceti, Marie-Estelle Dupont, Olivier Guilbaud, Hermann-Josef Gröne, Zoran V. Popovic, Mario Mancini, Batya B. Davidovici, Batsheva Marcos, Edith Orion, Ronni Wolf, Jean-Louis Vincent, Giora Z. Feuerstein, James C. Keith, Robert R. Ruffolo, Cord Sunderkötter, M. Murat Naki, Cevahir Tekcan, M. Murat Naki, Cevahir Tekcan, Amy S. Rawls, Daniel C. Link, Carolina Reitzenstein, Jürgen Kopitz, Michael Cantz, Michael Cantz, Johannes Uhl, Jürgen Kopitz, John-John B. Schnog, Victor E. A. Gerdes, Bärbel Schütte, Samuel J. Arbes, Darryl C. Zeldin, Alessandra Baumer, Hans-Peter Zenner, Brandy J. Harvey, Jyh-Yeuan Lee, Ina L. Urbatsch, Jan Rémi, Soheyl Noachtar, Alexander K. C. Leung, Sarah H. Elsea, Santhosh Girirajan, Chee-Keong Toh, Cord Sunderkötter, Rebecca Schüle, Ludger Schöls, Niels Borregaard, Jack B. Cowland, John-John B. Schnog, Victor E. A. Gerdes, Alexander K. C. Leung, Laura E. Mitchell, Analee J. Etheredge, Denise S. Hill, Richard H. Finnell, Meinhard Schiller, Dorothee Nashan, Cord Sunderkötter, Stefan Reuter, David Geneviève, Valérie Cormier-Daire, Jozef Gécz, Ravi Savarirayan, Yves Le Loir, Michel Gautier, Cord Sunderkötter, Jean-Michel Rozet, Josseline Kaplan, Katarzyna Lukasiuk, Asla Pitkänen, Stephan Haas, Sören Siegmund, Manfred V. Singer, Henryk Dancygier, Mark Oette, Vicente Andrés, Rainer Wessely, Alexander K. C. Leung, Deborah P. Merke, Alexander K. C. Leung, Kam-Lun Ellis Hon, Jutta Engel, Hans-Michael Meinck, Amei Ludwig, Hartmut Hengel, John-John B. Schnog, Victor E. A. Gerdes, Giora Z. Feuerstein, Xinkang Wang, Ivor L. Gerber, Eric Sibley, Akihiro Takatsu, Brigitta Bondy, Daniel Markovich, Ting-Ting Huang, Charles J. Epstein, Hilmar Prange   +150 more
openaire   +1 more source

Combined 17α-hydroxylase/17,20-lyase deficiency due to a stop codon in the N-terminal region of 17α-hydroxylase cytochrome P-450

Molecular and Cellular Endocrinology, 1988
exaly  

Genetics of 21-Hydroxylase Deficiency ☆

2017
openaire   +1 more source

[Classic 21-hydroxylase deficiency].

Ryoikibetsu shokogun shirizu, 1995
Y, Saiko, S, Minowada
openaire   +1 more source

[Nonclassic 21-hydroxylase deficiency].

Ryoikibetsu shokogun shirizu, 1995
Y, Saiko, S, Minowada
openaire   +1 more source

21-Hydroxylase Deficiency: Clinical and Biochemical Aspects

2019
Anna Nordenstrӧm, Svetlana Lajic
openaire   +1 more source