Publications by authors named "Caroline Alby"

16Publications

Phenotypic Variability with SLURP1 Mutations and Diffuse Palmoplantar Keratoderma.

Acta Derm Venereol 2020 Feb 25;100(4):adv00060. Epub 2020 Feb 25.

Department of Dermatology and Allergology, University of Helsinki and Helsinki University Central Hospital, 00029 HUS, Helsinki, Finland.

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http://dx.doi.org/10.2340/00015555-3404DOI Listing
February 2020

P63-related disorders: Dermatological characteristics in 22 patients.

Exp Dermatol 2019 10;28(10):1190-1195

Department of Dermatology, Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC), Paris, France.

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http://dx.doi.org/10.1111/exd.14045DOI Listing
October 2019

Fetal Cerebral Ventricular Dilatation: Etiopathogenic Study of 130 Observations.

Birth Defects Res 2017 Nov 31;109(19):1586-1595. Epub 2017 Jul 31.

Service d'Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants Malades, APHP, Paris, France.

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http://dx.doi.org/10.1002/bdr2.1093DOI Listing
November 2017

ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.

Brain 2016 11;139(11):e64

Assistance Publique-Hôpitaux de Paris, Département de Génétique and Centre de Référence Déficiences Intellectuelles de Causes Rares and GRC UPMC "Déficiences Intellectuelles et Autisme", Groupe Hospitalier Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1093/brain/aww181DOI Listing
November 2016