Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Shereen G. Ghosh

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

American Journal of Human Genetics

English

Biallelic Mutations in ADPRHL2 , Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

American Journal of Human Genetics

English

Related publications

Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease

American Journal of Human Genetics

English

Bi-Allelic ADPRHL2 Mutations Cause Neurodegeneration With Developmental Delay, Ataxia, and Axonal Neuropathy

American Journal of Human Genetics

English

Biallelic Mutations in CFAP65 Lead to Severe Asthenoteratospermia Due to Acrosome Hypoplasia and Flagellum Malformations

Journal of Medical Genetics

English

Loss-Of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy

American Journal of Human Genetics

English

Ataxia-Pancytopenia Syndrome With SAMD9L Mutations

Neurology: Genetics

English

Biallelic Mutations in LRRC56, Encoding a Protein Associated With Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects

American Journal of Human Genetics

English

Mutations in CUL7, OBSL1 and CCDC8 in 3-M Syndrome Lead to Disordered Growth Factor Signalling

Journal of Molecular Endocrinology

Molecular Biology

English

Biallelic Mutations in MYPN , Encoding Myopalladin, Are Associated With Childhood-Onset, Slowly Progressive Nemaline Myopathy

American Journal of Human Genetics

English