Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement (Q28279078)

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17 February 2020

title

Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement (English)

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Nadia Schoenmakers

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Paul Le Tissier

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Juan Pedro Martinez-Barbera

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Alberto M Pereira

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Paolo Beck-Peccoz

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Sarina G Kant

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Anita C S Hokken-Koelega

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Peter Voshol

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Nienke R Biermasz

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author name string

Beata Bak

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A S Paul van Trotsenburg

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Wilma Oostdijk

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Emma Cambridge

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Jacqueline K White

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S Neda Mousavy Gharavy

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language of work or name

English

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publication date

11 November 2012

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17 February 2020

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17 February 2020

volume

44

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17 February 2020

page(s)

1375-1381

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17 February 2020

issue

12

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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

17 February 2020

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20 March 2017

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20 March 2017

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20 March 2017

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20 March 2017

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Increased Wingless (Wnt) signaling in pituitary progenitor/stem cells gives rise to pituitary tumors in mice and humans

20 March 2017

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29 September 2017

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29 September 2017

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An evaluation of the thyrotrophin-releasing hormone stimulation test in paediatric clinical practice

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29 September 2017

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Both SMAD2 and SMAD3 mediate activin-stimulated expression of the follicle-stimulating hormone beta subunit in mouse gonadotrope cells

29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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12 December 2020

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12 December 2020

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