Syrine Hizem

Syrine Hizem

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Syrine Hizem

Syrine Hizem

Publications by authors named "Syrine Hizem"

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5Publications

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In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis.

Hum Mutat 2018 Oct 8. Epub 2018 Oct 8.

Department of Paediatric and Adolescent Medicine, Division of Paediatric Endocrinology and Diabetes, University of Luebeck, Luebeck, Germany.

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October 2018

Altered three-dimensional organization of sperm genome in DPY19L2-deficient globozoospermic patients.

J Assist Reprod Genet 2018 Oct 25. Epub 2018 Oct 25.

Génomique, Epigénétique et Physiopathologie de la Reproduction, U1016 INSERM-UMR 8104 CNRS, Institut Cochin, Université Paris Descartes, Paris, France.

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October 2018

Functional Analysis of Mutations at Codon 127 of the SRY Gene Associated with 46,XY Complete Gonadal Dysgenesis.

Sex Dev 2017 9;11(4):203-209. Epub 2017 Aug 9.

Laboratoire de Génétique Humaine, Faculté de Médecine de Tunis, Université de Tunis El Manar, Tunis, Tunisia.

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May 2018

First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations.

BMC Med Genet 2017 11 17;18(1):134. Epub 2017 Nov 17.

Service des Maladies Congénitales et Héréditaires, CHU Mongi Slim La Marsa, Sidi Daoud La Marsa, 2046, Tunis, Tunisia.

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November 2017