المؤلفون: Portnoi, Marie-France, Dumargne, Marie-Charlotte, Rojo, Sandra, Witchel, Selma F, Duncan, Andrew J, Eozenou, Caroline, Bignon-Topalovic, Joelle, Yatsenko, Svetlana A, Rajkovic, Aleksandar, Reyes-Mugica, Miguel, Almstrup, Kristian, Fusee, Leila, Srivastava, Yogesh, Chantot-Bastaraud, Sandra, Hyon, Capucine, Louis-Sylvestre, Christine, Validire, Pierre, de Malleray Pichard, Caroline, Ravel, Celia, Christin-Maitre, Sophie, Brauner, Raja, Rossetti, Raffaella, Persani, Luca, Charreau, Eduardo H, Dain, Liliana, Chiauzzi, Violeta A, Mazen, Inas, Rouba, Hassan, Schluth-Bolard, Caroline, MacGowan, Stuart, McLean, WH Irwin, Patin, Etienne, Meyts, Ewa Rajpert-De, Jauch, Ralf, Achermann, John C, Siffroi, Jean-Pierre, McElreavey, Ken, Bashamboo, Anu

المصدر: Human Molecular Genetics. 27(7)

مصطلحات موضوعية: Rare Diseases, Contraception/Reproduction, Infertility, Clinical Research, Genetics, Aetiology, 2.1 Biological and endogenous factors, Reproductive health and childbirth, 46, XX Disorders of Sex Development, Adolescent, Child, Disorder of Sex Development, 46, XY, Female, Humans, Male, Mutation, Missense, Oligospermia, Primary Ovarian Insufficiency, SOXE Transcription Factors, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/41s0n02dTest

المؤلفون: Portnoi, Marie France, Dumargne, Marie Charlotte, Rojo, Sandra, Witchel, Selma F., Duncan, Andrew J., Eozenou, Caroline, Bignon Topalovic, Joelle, Yatsenko, Svetlana A., Rajkovic, Aleksandar, Reyes Mugica, Miguel, Almstrup, Kristian, Fusee, Leila, Srivastava, Yogesh, Chantot Bastaraud, Sandra, Hyon, Capucine, Louis Sylvestre, Christine, Validire, Pierre, de Malleray Pichard, Caroline, Ravel, Celia, Christin Maitre, Sophie, Brauner, Raja, Rossetti, Raffaella, Persani, Luca, Charreau, Eduardo Hernan, Dain, Liliana Beatriz, Chiauzzi, Violeta Alicia, Mazen, Inas, Rouba, Hassan, Schluth Bolard, Caroline, Mac Gowan, Stuart, Mc Lean, W. H. Irwin, Patin, Etienne, Rajpert De Meyts, Ewa, Jauch, Ralf, Achermann, John C., Siffroi, Jean Pierre, Mc Elreavey, Ken, Bashamboo, Anu

مصطلحات موضوعية: SOX8, SRY, INFERTILITY, DISORDER OF SEX DEVELOPMENT, MUTATION, OLIGOSPERMIA, https://purl.org/becyt/ford/1.6Test, https://purl.org/becyt/ford/1Test, https://purl.org/becyt/ford/3.1Test, https://purl.org/becyt/ford/3Test

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/url/https://academic.oup.com/hmg/article/27/7/1228/4823478Test; http://hdl.handle.net/11336/110617Test; Portnoi, Marie France; Dumargne, Marie Charlotte; Rojo, Sandra; Witchel, Selma F.; Duncan, Andrew J.; et al.; Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies; Oxford University Press; Human Molecular Genetics; 27; 7; 4-2018; 1228-1240; CONICET Digital; CONICET

الإتاحة: https://doi.org/10.1093/hmg/ddy037Test
http://hdl.handle.net/11336/110617Test