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Publications by Lotje Dalen Meurs

4H Leukodystrophy Caused by a Homozygous POLR3B Mutation: Further Delineation of the Phenotype

American Journal of Medical Genetics, Part A

English

Related publications

Further Delineation of the Phenotype Caused by a Novel Large Homozygous Deletion of GRID2 Gene in an Adult Patient

Clinical Case Reports

English

Heterozygous Versus Homozygous Phenotype Caused by the Same Mc4r Mutation: Novel Mutation Affecting a Large Consanguineous Kindred

BMC Medical Genetics

English

4H Leukodystrophy

Neurology: Genetics

English

Multisystem Fatal Infantile Disease Caused by a Novel Homozygous EARS2 Mutation

English

Phenotype of Three Consanguineous Tunisian Families With Early-Onset Retinal Degeneration Caused by an R91W Homozygous Mutation in the RPE65 Gene

Graefe's Archive for Clinical and Experimental Ophthalmology

Molecular Neuroscience

Sensory Systems

English

Autosomal Recessive Woolly Hair With Hypotrichosis Caused by a Novel Homozygous Mutation in theP2RY5gene

Experimental Dermatology

Molecular Biology

English

Distal 14q Trisomy Syndrome in Two Siblings: Further Delineation of Its Phenotype

Japanese journal of human genetics

English

Further Delineation of the Phenotype of Congenital Disorder of Glycosylation DPAGT1-CDG (CDG-Ij) Identified by Homozygosity Mapping

Internal Medicine

Molecular Biology

English

Janus Kinase 3 Deficiency Caused by a Homozygous Synonymous Exonic Mutation That Creates a Dominant Splice Site

Journal of Allergy and Clinical Immunology

English