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Publications by M Schlosser

Five Novel Mutations in the L1CAM Gene in Families With X Linked Hydrocephalus.

Journal of Medical Genetics

English

CFTR Transcripts Are Undetectable in Lymphocytes and Respiratory Epithelial Cells of a CF Patient Homozygous for the Nonsense Mutation R553X.

Journal of Medical Genetics

English

Related publications

GPR143 Gene Mutations in Five Chinese Families With X-Linked Congenital Nystagmus

Scientific Reports

Multidisciplinary

English

Three Novel AVPR2 Mutations in Three Japanese Families With X-Linked Nephrogenic Diabetes Insipidus

Pediatric Research

English

Three Novel PHEX Gene Mutations in Japanese Patients With X-Linked Hypophosphatemic Rickets

Pediatric Research

English

X-Linked Hydrocephalus

Canadian Journal of Neurological Sciences

English

Novel Β-Crystallin Gene Mutations in Chinese Families With Nuclear Cataracts

Archives of Ophthalmology

English

X-Linked Primary Immunodeficiency Associated With Hemizygous Mutations in the Moesin (MSN) Gene

Journal of Allergy and Clinical Immunology

English

Mutation Analysis of the RPGR Gene Reveals Novel Mutations in South European Patients With X-Linked Retinitis Pigmentosa

European Journal of Human Genetics

English

Novel Mutations in the IRF6 Gene in Brazilian Families With Van Der Woude Syndrome

International Journal of Molecular Medicine

English

Mutations in L1-Cam in Two Families With X Linked Complicated Spastic Paraplegia, MASA Syndrome, and HSAS.

Journal of Medical Genetics

English