Discover open access scientific publications

Search, annotate, share and cite publications

Publications by John A. McGrath

Mutations in GRHL2 Result in an Autosomal-Recessive Ectodermal Dysplasia Syndrome

American Journal of Human Genetics

English

Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-B in Inherited Skin Fragility

American Journal of Human Genetics

English

Related publications

Loss-Of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome

American Journal of Human Genetics

English

Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability

American Journal of Human Genetics

English

Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts

American Journal of Human Genetics

English

Cerebellar Ataxia-Ectodermal Dysplasia Syndrome

English

Ectodermal Dysplasia-Sensorineural Deafness Syndrome

English

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

Acta Orthopaedica

Sports Medicine

English

Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome

American Journal of Human Genetics

English

Acrocapitofemoral Dysplasia: An Autosomal Recessive Skeletal Dysplasia With Cone Shaped Epiphyses in the Hands and Hips

Journal of Medical Genetics

English

Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome

English