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Publications by Beril Talim

Multisystem Fatal Infantile Disease Caused by a Novel Homozygous EARS2 Mutation

English

Escobar Syndrome Is a Prenatal Myasthenia Caused by Disruption of the Acetylcholine Receptor Fetal Γ Subunit

American Journal of Human Genetics

English

Related publications

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

BMC Medical Genetics

English

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

Experimental Dermatology

Molecular Biology

English

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

American Journal of Medical Genetics, Part A

English

Charcot-Marie-Tooth Disease Type 2 Caused by Homozygous MME Gene Mutation Superimposed by Chronic Inflammatory Demyelinating Polyneuropathy

Clinical Neurology

English

Fatal Neonatal Encephalopathy and Lactic Acidosis Caused by a Homozygous Loss-Of-Function Variant in COQ9

European Journal of Human Genetics

English

Fatal Kawasaki Disease Caused by Early Occlusive Coronary Artery Disease

Archives of Disease in Childhood

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

GNE Myopathy in Turkish Sisters With a Novel Homozygous Mutation

Case Reports in Neurological Medicine

English

Recurrent Inflammatory Disease Caused by a Heterozygous Mutation in CD48

Journal of Allergy and Clinical Immunology

English