Damien Haye

Damien Haye

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Damien Haye

Damien Haye

Publications by authors named "Damien Haye"

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Phosphoglycerate dehydrogenase (PHGDH) deficiency without epilepsy mimicking primary microcephaly.

Am J Med Genet A 2017 Jul 25;173(7):1936-1942. Epub 2017 Apr 25.

Department of Genetics, APHP-Robert DEBRE University Hospital, Paris VII-Denis Diderot Medical School and INSERM UMR1141, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.38217DOI Listing
July 2017

Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability.

J Pediatr 2017 06 8;185:160-166.e1. Epub 2017 Mar 8.

APHP, GH Pitié Salpêtrière, Department of genetics, unit of medical genetics, reference center for intellectual disabilities of rare causes, Paris, France; GRC Intellectual Disability and Autism, UPMC, Paris, France; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, Inserm U 1127, CNRS UMR 7225, ICM, Paris, France; APHP, Hôpital Armand-Trousseau, Department of genetics, Division of clinical genetics, Paris, France.

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http://dx.doi.org/10.1016/j.jpeds.2017.02.023DOI Listing
June 2017

Failure of ossification of the occipital bone in mandibuloacral dysplasia type B.

Am J Med Genet A 2016 10 13;170(10):2750-5. Epub 2016 Jul 13.

Department of Genetics, APHP-Robert Debré University Hospital and Paris VII-Denis Diderot Medical School Paris, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.37825DOI Listing
October 2016

Prenatal findings in carpenter syndrome and a novel mutation in RAB23.

Am J Med Genet A 2014 Nov 28;164A(11):2926-30. Epub 2014 Aug 28.

Service de Génétique, Hôpital Bretonneau, Centre Hospitalier Universitaire, Tours, France.

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http://dx.doi.org/10.1002/ajmg.a.36726DOI Listing
November 2014