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Publications by Sebahattin Cirak
Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability
American Journal of Human Genetics
Genetics
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome
American Journal of Human Genetics
Genetics
Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy With Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis
American Journal of Human Genetics
Genetics
Biallelic Mutations in ADPRHL2 , Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome
American Journal of Human Genetics
Genetics
Late Diagnosis of a Truncating WISP3 Mutation Results in a Severe Phenotype of Progressive Pseudorheumatoid Dysplasia.
Cold Spring Harbor molecular case studies
Biochemistry
Molecular Medicine
Genetics
Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance
Pediatric Neurology
Child Health
Developmental Neuroscience
Pediatrics
Perinatology
Neurology