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	401.	Screening for mutations in 17β-hydroxysteroid dehydrogenase and androgen receptor in women presenting with partially virilised 46,XY disorders of sex development. [electronic resource] by Phelan, Niamh Williams, Emma L Cardamone, Stefanie Lee, Marilyn Creighton, Sarah M Rumsby, Gill Conway, Gerard S Producer: 20150706 In: European journal of endocrinology vol. 172 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	402.	Novel Heterozygous Mutations of NR5A1 and Their Functional Characteristics in Patients with 46,XY Disorders of Sex Development without Adrenal Insufficiency. [electronic resource] by Woo, Kyu Ha Cheon, Buwon Kim, Ja Hye Cho, Jahyang Kim, Gu-Hwan Yoo, Han-Wook Choi, Jin-Ho Producer: 20160523 In: Hormone research in paediatrics vol. 84 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	403.	Psychosexual Outcome Among Iranian Individuals With 5α-Reductase Deficiency Type 2 and Its Relationship With Parental Sexism. [electronic resource] by Khorashad, Behzad S Aghili, Zahra Kreukels, Baudewijntje P C Hiradfar, Mehran Roshan, Ghasem M Afkhamizadeh, Mozhgan Abbaszadegan, Mohammad Reza Ghaemi, Nosrat Khazai, Behnaz Cohen-Kettenis, P T Producer: 20170612 In: The journal of sexual medicine vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	404.	Late Diagnosis of 5-α-Reductase Type 2 Deficiency in an Adolescent Girl with Primary Amenorrhoea. [electronic resource] by Hummadi, Abdul-Rahman A Yahya, Ayel O Al-Qahtani, Awad M Producer: 20181221 In: Sultan Qaboos University medical journal vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	405.	Etiological classification and clinical assessment of children and adolescents with disorders of sex development. [electronic resource] by Erdoğan, Sema Kara, Cengiz Uçaktürk, Ahmet Aydın, Murat Producer: 20111215 In: Journal of clinical research in pediatric endocrinology vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	406.	Pitfalls in hormonal diagnosis of 17-beta hydroxysteroid dehydrogenase III deficiency. [electronic resource] by Khattab, Ahmed Yuen, Tony Yau, Mabel Domenice, Sorahia Frade Costa, Elaine Maria Diya, Kazmi Muhuri, Dwaipayan Pina, Christian Enrique Nishi, Mirian Yumie Yang, Amy C de Mendonça, Berenice Biharinho New, Maria I Producer: 20160126 In: Journal of pediatric endocrinology & metabolism : JPEM vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	407.	Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure. [electronic resource] by Harrison, Steven M Campbell, Ian M Keays, Melise Granberg, Candace F Villanueva, Carlos Tannin, Grace Zinn, Andrew R Castrillon, Diego H Shaw, Chad A Stankiewicz, Pawel Baker, Linda A Producer: 20140515 In: American journal of medical genetics. Part A vol. 161A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	408.	Unexpected ethical dilemmas in sex assignment in 46,XY DSD due to 5-alpha reductase type 2 deficiency. [electronic resource] by Byers, Heather M Mohnach, Lauren H Fechner, Patricia Y Chen, Ming Thomas, Inas H Ramsdell, Linda A Shnorhavorian, Margarett McCauley, Elizabeth A Amies Oelschlager, Anne-Marie E Park, John M Sandberg, David E Adam, Margaret P Keegan, Catherine E Producer: 20171201 In: American journal of medical genetics. Part C, Seminars in medical genetics vol. 175 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	409.	A mutation inactivating the distal SF1 binding site on the human anti-Müllerian hormone promoter causes persistent Müllerian duct syndrome. [electronic resource] by Schteingart, Helena F Picard, Jean-Yves Valeri, Clara Marshall, Ian Treton, Dominique di Clemente, Nathalie Rey, Rodolfo A Josso, Nathalie Producer: 20200511 In: Human molecular genetics vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	410.	A novel hemizygous mutation of MAMLD1 in a patient with 46,XY complete gonadal dysgenesis. [electronic resource] by Ruiz-Arana, Inge-Lore Hübner, Angela Cetingdag, Cigdem Krude, Heiko Grüters, Annette Fukami, Maki Biebermann, Heike Köhler, Birgit Producer: 20160211 In: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	411.	Two novel mutations in the NR5A1 gene as a cause of disorders of sex development in a Pakistani cohort of 46,XY patients. [electronic resource] by Hussain, S Amar, A Najeeb, M N Khaliq, S Producer: 20170206 In: Andrologia vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	412.	Homozygous p.R246Q Mutation and Impaired Spermatogenesis: Long Term Follow-up of 4 Children from One Family with 5 Alpha Reductase 2 Deficiency. [electronic resource] by Shabir, Iram Khurana, Madan L Marumudi, Eunice Joseph, Angela Ann Mehta, Manju John, Jomimol Ammini, Ariachery C Producer: 20170207 In: Indian journal of pediatrics vol. 83 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	413.	Birth Weight in Different Etiologies of Disorders of Sex Development. [electronic resource] by Poyrazoglu, Sukran Darendeliler, Feyza Ahmed, S Faisal Hughes, Ieuan Bryce, Jillian Jiang, Jipu Rodie, Martina Hiort, Olaf Hannema, Sabine E Bertelloni, Silvano Lisa, Lidka Guran, Tulay Cools, Martine Desloovere, An Claahsen-van der Grinten, Hedi L Nordenstrom, Anna Holterhus, Paul-Martin Kohler, Birgit Niedziela, Marek Krone, Nils Producer: 20170612 In: The Journal of clinical endocrinology and metabolism vol. 102 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	414.	Mutation update for the NR5A1 gene involved in DSD and infertility. [electronic resource] by Fabbri-Scallet, Helena de Sousa, Lizandra Maia Maciel-Guerra, Andréa Trevas Guerra-Júnior, Gil de Mello, Maricilda Palandi Producer: 20210519 In: Human mutation vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	415.	A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development. [electronic resource] by Bashamboo, Anu Donohoue, Patricia A Vilain, Eric Rojo, Sandra Calvel, Pierre Seneviratne, Sumudu N Buonocore, Federica Barseghyan, Hayk Bingham, Nathan Rosenfeld, Jill A Mulukutla, Surya Narayan Jain, Mahim Burrage, Lindsay Dhar, Shweta Balasubramanyam, Ashok Lee, Brendan Dumargne, Marie-Charlotte Eozenou, Caroline Suntharalingham, Jenifer P de Silva, Ksh Lin, Lin Bignon-Topalovic, Joelle Poulat, Francis Lagos, Carlos F McElreavey, Ken Achermann, John C Producer: 20170713 In: Human molecular genetics vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	416.	Functional analysis of novel desert hedgehog gene variants improves the clinical interpretation of genomic data and provides a more accurate diagnosis for patients with 46,XY differences of sex development. [electronic resource] by Ayers, Katie van den Bergen, Jocelyn Robevska, Gorjana Listyasari, Nurin Raza, Jamal Atta, Irum Riedl, Stefan Rothacker, Karen Choong, Catherine Faradz, Sultana M H Sinclair, Andrew Producer: 20200603 In: Journal of medical genetics vol. 56 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	417.	Different levels of testicular organization during gonadal differentiation in B6.Y(Tir) mice manifesting sex reversal. [electronic resource] by Antonio-Rubio, Nivia Rocio Moreno-Mendoza, Norma Producer: 20140331 In: Cell biology international vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	418.	A novel nonsense mutation in HSD17B3 gene in a Tunisian patient with sexual ambiguity. [electronic resource] by Ben Rhouma, Bochra Belguith, Neila Mnif, Mouna Feki Kamoun, Thouraya Charfi, Nadia Kamoun, Mahdi Abdelhedi, Fatma Hachicha, Mongia Kamoun, Hassen Abid, Mohamed Fakhfakh, Faiza Producer: 20140424 In: The journal of sexual medicine vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	419.	Familial forms of disorders of sex development may be common if infertility is considered a comorbidity. [electronic resource] by Brauner, Raja Picard-Dieval, Flavia Lottmann, Henri Rouget, Sébastien Bignon-Topalovic, Joelle Bashamboo, Anu McElreavey, Ken Producer: 20171120 In: BMC pediatrics vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	420.	Novel cases of Tunisian patients with mutations in the gene encoding 17β-hydroxysteroid dehydrogenase type 3 and a founder effect. [electronic resource] by Ben Rhouma, Bochra Kallabi, Fakhri Mahfoudh, Nadia Ben Mahmoud, Afif Engeli, Roger T Kamoun, Hassen Keskes, Leila Odermatt, Alex Belguith, Neila Producer: 20170623 In: The Journal of steroid biochemistry and molecular biology vol. 165 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 479 results.