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The importance of the multiplex ligation-dependent probe amplification in the identification of a novel two-exon deletion of the NR5A1 gene in a patient with 46,XY differences of sex development. [electronic resource] by
- Nagy, Orsolya
- Kárteszi, Judit
- Hartwig, Marianna
- Bertalan, Rita
- Jávorszky, Eszter
- Erhardt, Éva
- Patócs, Attila
- Tornóczky, Tamás
- Balogh, István
- Ujfalusi, Anikó
Producer: 20200309
In:
Molecular biology reports vol. 46
Availability: No items available.
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Multiparameter Investigation of a 46,XX/46,XY Tetragametic Chimeric Phenotypical Male Patient with Bilateral Scrotal Ovotestes and Ovulatory Activity. [electronic resource] by
- van Bever, Yolande
- Wolffenbuttel, Katja P
- Brüggenwirth, Hennie T
- Blom, Eric
- de Klein, Annelies
- Eussen, Bert H J
- van der Windt, Florijn
- Hannema, Sabine E
- Dessens, Arianne B
- Dorssers, Lambert C J
- Biermann, Katharina
- Hersmus, Remko
- de Rijke, Yolanda B
- Looijenga, Leendert H J
Producer: 20181116
In:
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation vol. 12
Availability: No items available.
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359.
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Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling. [electronic resource] by
- Callier, Patrick
- Calvel, Pierre
- Matevossian, Armine
- Makrythanasis, Periklis
- Bernard, Pascal
- Kurosaka, Hiroshi
- Vannier, Anne
- Thauvin-Robinet, Christel
- Borel, Christelle
- Mazaud-Guittot, Séverine
- Rolland, Antoine
- Desdoits-Lethimonier, Christèle
- Guipponi, Michel
- Zimmermann, Céline
- Stévant, Isabelle
- Kuhne, Françoise
- Conne, Béatrice
- Santoni, Federico
- Lambert, Sandy
- Huet, Frederic
- Mugneret, Francine
- Jaruzelska, Jadwiga
- Faivre, Laurence
- Wilhelm, Dagmar
- Jégou, Bernard
- Trainor, Paul A
- Resh, Marilyn D
- Antonarakis, Stylianos E
- Nef, Serge
Producer: 20141125
In:
PLoS genetics vol. 10
Availability: No items available.
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