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Publications by M. Stenzel
Novel Homozygous RARS2 Mutation in Two Siblings Without Pontocerebellar Hypoplasia – Further Expansion of the Phenotypic Spectrum
Orphanet Journal of Rare Diseases
Medicine
Genetics
Pharmacology
Related publications
Siblings With Lethal Primary Pulmonary Hypoplasia and Compound Heterozygous Variants in the AARS2 Gene: Further Delineation of the Phenotypic Spectrum
Cold Spring Harbor molecular case studies
Biochemistry
Molecular Medicine
Genetics
Pontocerebellar Hypoplasia Type 4
Non-Syndromic Pontocerebellar Hypoplasia
Pontocerebellar Hypoplasia Type 5
Pontocerebellar Hypoplasia Type 8
AP4B1-associated Hereditary Spastic Paraplegia: Expansion of Phenotypic Spectrum Related to Homozygous p.Thr387fs Variant
Journal of Applied Genetics
Medicine
Genetics
A Novel Homozygous Nonsense Mutation (p.y78*) in Tmprss6 Gene Causing Iron-Refractory Iron Deficiency Anemia (Irida) in Two Siblings
Turkish Journal of Pediatrics
Child Health
Pediatrics
Perinatology
Pontocerebellar Hypoplasia Type 2
Pontocerebellar Hypoplasia Type 6
