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Publications by Ruth Lapid-Gortzak

A Novel Mutation of Laminin Β2 (LAMB2) in Two Siblings With Renal Failure

European Journal of Pediatrics

English

Related publications

Hyperimmunoglobulinaemia D Syndrome in India: Report of Two Siblings With a Novel Mutation

Annals of the Rheumatic Diseases

Molecular Biology

English

Two Siblings With Congenital Central Hypothyroidism Caused by a Novel Mutation in the IGSF1 Gene

Clinical Pediatric Endocrinology

English

A Novel Homozygous Truncating Mutation in LAMB2 Gene in a Chinese Uyghur Patient With Severe Phenotype Pierson Syndrome

Frontiers in Medicine

English

Novel Cardiovascular Findings in Association With a POMT2 Mutation: Three Siblings With Α-Dystroglycanopathy

European Journal of Human Genetics

English

A Novel Heterozygous GLI2 Mutation in a Patient With Congenital Urethral Stricture and Renal Hypoplasia/Dysplasia Leading to End-Stage Renal Failure

CEN Case Reports

English

Novel Homozygous RARS2 Mutation in Two Siblings Without Pontocerebellar Hypoplasia – Further Expansion of the Phenotypic Spectrum

Orphanet Journal of Rare Diseases

English

A Novel Homozygous Nonsense Mutation (p.y78*) in Tmprss6 Gene Causing Iron-Refractory Iron Deficiency Anemia (Irida) in Two Siblings

Turkish Journal of Pediatrics

English

Dyskeratosis Congenita Caused by a Novel TERT Point Mutation in Siblings With Pancytopenia and Exudative Retinopathy

Pediatric Blood and Cancer

English

Intellectual Disability and Dysmorphic Features in Male Siblings Arising From a Novel TAF1 Mutation

Congenital Anomalies

Developmental Biology

English