Publications by authors named "Edith Said"

14 Publications

  • Page 1 of 1

DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients.

Eur J Hum Genet 2020 01 15;28(1):64-75. Epub 2019 Mar 15.

Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, IRSJD, CIBERER, Barcelona, Spain.

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January 2020

Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.

Am J Med Genet A 2017 Nov 8;173(11):3098-3103. Epub 2017 Sep 8.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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November 2017

A case of true hermaphroditism presenting as a testicular tumour.

Case Rep Urol 2015 3;2015:598138. Epub 2015 Feb 3.

Department of Pathology, Mater Dei Hospital, Tal-Qroqq MSD 2090, Malta.

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March 2015

Vici syndrome--a rapidly progressive neurodegenerative disorder with hypopigmentation, immunodeficiency and myopathic changes on muscle biopsy.

Am J Med Genet A 2012 Feb 30;158A(2):440-4. Epub 2011 Sep 30.

Department of Anatomy & Cell Biology, University of Malta, Msida, Malta.

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February 2012

Toriello-Carey syndrome with a 6Mb interstitial deletion at 22q12 detected by array CGH.

Am J Med Genet A 2011 Jun 12;155A(6):1390-2. Epub 2011 May 12.

Department of Anatomy and Cell Biology, University of Malta, Msida, Malta.

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June 2011

Eight previously unidentified mutations found in the OA1 ocular albinism gene.

BMC Med Genet 2006 Apr 28;7:41. Epub 2006 Apr 28.

EA no 2502 du ministère de la Recherche, de l'Enseignement Supérieur et la Technologie, CEntre de Recherches Thérapeutiques en Ophtalmologie, Université René Descartes-Paris V, Faculté de Médecine René Descartes-Site Necker, Paris, France.

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April 2006

Defect in dorso-ventral patterning, asplenia, and conotruncus in a spontaneously aborted fetus.

Fetal Pediatr Pathol 2004 Jul-Aug;23(4):265-74

Department of Anatomy, University of Malta, Msida MSD06, Malta.

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September 2005