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Publications by Janine Reichenbach

A Hypermorphic IκBα Mutation Is Associated With Autosomal Dominant Anhidrotic Ectodermal Dysplasia and T Cell Immunodeficiency

Journal of Clinical Investigation

English

Related publications

Anhidrotic Ectodermal Dysplasia and Immunodeficiency: The Role of NEMO

Archives of Disease in Childhood

English

Osteopetrosis, Lymphedema, Anhidrotic Ectodermal Dysplasia, and Immunodeficiency in a Boy and Incontinentia Pigmenti in His Mother

English

X-Linked Anhidrotic Ectodermal Dysplasia With Some Unusual Features.

Journal of Medical Genetics

English

A Rare Case of Anhidrotic Ectodermal Dysplasia in a Six-Year-Old Boy

International Journal of Case Reports and Images

English

Autosomal Dominant Amelogenesis Imperfecta Associated withENAMframeshift Mutation p.Asn36Ilefs56

Clinical Genetics

English

The Relationship Between Kuchofuku® and Body Temperature in X-Linked Anhidrotic Ectodermal Dysplasia

Pediatric Dental Journal

English

A Homozygous Missense Mutation in SLC25A16 Is Associated With Autosomal Recessive Isolated Fingernail Dysplasia in a Pakistani Family

British Journal of Dermatology

English

Autosomal Dominant Microcephaly---Lymphoedema-Chorioretinal Dysplasia Syndrome

British Journal of Ophthalmology

Molecular Neuroscience

Sensory Systems

English

Autosomal Dominant Macular Degeneration Associated With 208del G Mutation in the FSCN2 Gene

Archives of Ophthalmology

English