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Basic and Clinical Andrology, 04/2019, Volume 29, Issue 1, pp. 1 - 16
Résumé Comme pour beaucoup de maladies humaines, les analyses génétiques en cas d’azoospermie étaient initialement limitées à la réalisation d’un caryotype,... 
Mutations | Azoospermia | Epigenetics | Chromosome | Genetic defects | Polymorphisms
Journal Article
Zuchtungskunde, ISSN 0044-5401, 05/2015, Volume 87, Issue 3, pp. 201 - 214
Journal Article
Pediatric endocrinology reviews : PER, ISSN 1565-4753, 09/2018, Volume 16, Issue Suppl 1, pp. 39 - 62
The GH/IGF axis plays an important role in the control of pre and postnatal growth. At least 48 monogenic defects have been described affecting the production,... 
Isolated GH deficiency | GH insensitivity | Combined pituitary hormone deficiency | Genetic defects | IGF-I insensitivity
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 05/2004, Volume 89, Issue 5, pp. 2107 - 2113
McCune-Albright syndrome (MAS) is a sporadic disorder characterized by the classic triad of polyostotic fibrous dysplasia, café-au-lait skin pigmentation, and... 
CUSHINGS-SYNDROME | HUMAN-DISEASE | GENETIC-DEFECTS | ADENYLYL-CYCLASE | ENDOCRINOLOGY & METABOLISM | CLINICAL-IMPLICATIONS | NODULAR ADRENAL-HYPERPLASIA | STIMULATORY G-PROTEIN | BONE | FIBROUS DYSPLASIA | MOLECULAR-BASIS
Journal Article
Atherosclerosis, ISSN 0021-9150, 10/2018, Volume 277, pp. 369 - 376
Journal Article
Human Mutation, ISSN 1059-7794, 07/2019, Volume 40, Issue 7, pp. 908 - 925
Journal Article
The EMBO Journal, ISSN 0261-4189, 11/2004, Volume 23, Issue 23, pp. 4679 - 4689
Journal Article
Sel'skokhozyaistvennaya Biologiya, ISSN 0131-6397, 2016, Volume 51, Issue 4, pp. 423 - 435
Journal Article
2001, ISBN 0851995209, x, 564 p., [2] p. of plates
Book
The New England Journal of Medicine, ISSN 0028-4793, 07/2013, Volume 369, Issue 1, pp. 54 - 65
Journal Article
Sel'skokhozyaistvennaya Biologiya, ISSN 0131-6397, 2016, Volume 51, Issue 4, pp. 423 - 435
Journal Article
by Oláhová, Monika and Yoon, Wan Hee and Thompson, Kyle and Jangam, Sharayu and Fernandez, Liliana and Davidson, Jean M and Kyle, Jennifer E and Grove, Megan E and Fisk, Dianna G and Kohler, Jennefer N and Holmes, Matthew and Dries, Annika M and Huang, Yong and Zhao, Chunli and Contrepois, Kévin and Zappala, Zachary and Frésard, Laure and Waggott, Daryl and Zink, Erika M and Kim, Young-Mo and Heyman, Heino M and Stratton, Kelly G and Webb-Robertson, Bobbie-Jo M and Adams, David R and Alejandro, Mercedes E and Allard, Patrick and Azamian, Mahshid S and Bacino, Carlos A and Balasubramanyam, Ashok and Barseghyan, Hayk and Batzli, Gabriel F and Beggs, Alan H and Behnam, Babak and Bican, Anna and Bick, David P and Birch, Camille L and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Briere, Lauren C and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Chen, Shan and Clark, Gary D and Coakley, Terra R and Cogan, Joy D and Cooper, Cynthia M and Cope, Heidi and Craigen, William J and D’Souza, Precilla and Davids, Mariska and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dillon, Ani and Dipple, Katrina M and Donnell-Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Eskin, Ascia and Esteves, Cecilia and Estwick, Tyra and Ferreira, Carlos and Fogel, Brent L and Friedman, Noah D and Gahl, William A and Glanton, Emily and Godfrey, Rena A and Goldstein, David B and Gould, Sarah E and Gourdine, Jean-Philippe F and Groden, Catherine A and Gropman, Andrea L and Haendel, Melissa and Hamid, Rizwan and Hanchard, Neil A and Handley, Lori H and Herzog, Matthew R and Holm, Ingrid A and Hom, Jason and Howerton, Ellen M and Jacob, Howard J and Jain, Mahim and Jiang, Yong-hui and Johnston, Jean M and Jones, Angela L and Kohane, Isaac S and Krasnewich, Donna M and Krieg, Elizabeth L and Krier, Joel B and Lalani, Seema R and Lau, C. Christopher and Lazar, Jozef and ... and Undiagnosed Diseases Network and Pacific Northwest National Lab. (PNNL), Richland, WA (United States)
The American Journal of Human Genetics, ISSN 0002-9297, 03/2018, Volume 102, Issue 3, pp. 494 - 504
Journal Article