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Publications by Samia Temtamy
Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome
American Journal of Human Genetics
Genetics
Identification of a Mutation Causing Deficient BMP1/mTLD Proteolytic Activity in Autosomal Recessive Osteogenesis Imperfecta
Human Mutation
Genetics
Related publications
Loss-Of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome
American Journal of Human Genetics
Genetics
Mutations in GRHL2 Result in an Autosomal-Recessive Ectodermal Dysplasia Syndrome
American Journal of Human Genetics
Genetics
Novel Mutations Confirm That COL11A2 Is Responsible for Autosomal Recessive Non-Syndromic Hearing Loss DFNB53
Molecular Genetics and Genomics
Medicine
Genetics
Molecular Biology
Newly Discovered Mutations in the GALNT3 Gene Causing Autosomal Recessive Hyperostosis-Hyperphosphatemia Syndrome
Acta Orthopaedica
Medicine
Surgery
Orthopedics
Sports Medicine
Current Opinion in the Molecular Genetics of Adams-Oliver Syndrome
Expert Opinion on Orphan Drugs
Toxicology
Pharmaceutics
Pharmacology
Health Policy
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
New Autosomal Recessive Faciodigitogenital Syndrome.
Journal of Medical Genetics
Genetics
Autosomal Recessive Distal Osteolysis Syndrome
Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability
American Journal of Human Genetics
Genetics