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Publications by Hiromichi Takama

Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations

Multidisciplinary

English

Related publications

Founder Mutations in the Lipase H Gene in Families With Autosomal Recessive Woolly Hair/Hypotrichosis

Journal of Investigative Dermatology

Molecular Biology

English

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

Experimental Dermatology

Molecular Biology

English

Mutations inLPAR6/P2RY5andLIPHare Associated With Woolly Hair and/or Hypotrichosis

Journal of the European Academy of Dermatology and Venereology

Infectious Diseases

English

Autosomal-Dominant Hypotrichosis With Woolly Hair: Novel Gene Locus on Chromosome 4q35.1-Q35.2

Multidisciplinary

English

Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex

American Journal of Human Genetics

English

Novel Transglutaminase-1 Mutations and Genotype-Phenotype Investigations of 104 Patients With Autosomal Recessive Congenital Ichthyosis in the USA

Journal of Medical Genetics

English

Genotype-Phenotype Correlations in PCD Patients Carrying DNAH5 Mutations

Respiratory Medicine

English

Newly Discovered Mutations in the GALNT3 Gene Causing Autosomal Recessive Hyperostosis-Hyperphosphatemia Syndrome

Acta Orthopaedica

Sports Medicine

English

Phenotype in Homozygous and Heterozygous Carriers of BEST1 Mutations in Autosomal Recessive Bestrophinopathy

Acta Ophthalmologica

English