Hala Mégarbané

Mutation in WNT10A Is Associated with an Autosomal Recessive Ectodermal Dysplasia: The Odonto-onycho-dermal Dysplasia

Lynn Adaimy, Éliane Chouery, Hala Mégarbané et al. · The American Journal of Human Genetics · 2007 · 249 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

A p.C217R Mutation in Fibulin-5 from Cutis Laxa Patients Is Associated with Incomplete Extracellular Matrix Formation in a Skin Equivalent Model

Stephanie Claus, Judith Fischer, Hala Mégarbané et al. · Journal of Investigative Dermatology · 2008 · 58 citations

Life Sciences, Genetics, Molecular Genetics +14

Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations

Marie‐Hélène Gannagé‐Yared, Jürgen Klammt, Éliane Chouery et al. · European Journal of Endocrinology · 2012 · 57 citations

Life Sciences, Endocrinology, Genetics +17

Ocular findings in ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome

Elias I. Traboulsi, N. Waked, Hala Mégarbané et al. · Ophthalmic Genetics · 2004 · 38 citations

Medicine, Dermatology, Ophthalmology +17

Genotype-Phenotype Correlations Emerging from the Identification of Missense Mutations in<i>MBTPS2</i>

Dorothea Bornholdt, T. Prescott Atkinson, B. Bouadjar et al. · Human Mutation · 2013 · 36 citations

Life Sciences, Genetics, Molecular Genetics +15