Sage Journals: Discover world-class research

Retricted access

Research article

First published 2008-09

Multiple De Novo Mutations in the MECP2 Gene

David J. Bunyan, David O. Robinson

Genetic Testing and Molecular Biomarkers

Open access

Case report

First published 2012

Alport Syndrome: De Novo Mutation in the COL4A5 Gene Converting Glycine 1205 to Valine

Pilar Antón-Martín, Cristina Aparicio López, Soraya Ramiro-León [...]

Clinical Medicine Insights: Pediatrics

Free access

Case report

First published

A de novo Mutation in the SCN4A Gene Causing Sodium Channel Myotonia

Kristin Ørstavik, Sean Ciaran Wallace, Torberg Torbergsen [...]

Journal of Neuromuscular Diseases

Open access

Research article

First published 2020-6

Gene expressions of de novo hepatic lipogenesis in feline hepatic lipidosis

Chiara Valtolina, Joris H Robben, Monique E van Wolferen [...]

Journal of Feline Medicine and Surgery

Open access

Case report

First published 2024

A case report of CHARGE syndrome caused by a de novo CHD7 gene mutation

Yuan Zhang, Yu Lu, Xicui Long [...]

Sage Open Medical Case Reports

Retricted access

Brief report

First published 2021-10-26

Early-Onset Dementia Associated with a Heterozygous,Nonsense,and de novo Variant in the MBD5 Gene

Guillermo González-Ortega, Sara Llamas-Velasco, Ana Arteche-López [...]

Journal of Alzheimer’s Disease

Open access

Research article

First published 2024-2

De novo germline pathogenic variant in Lynch Syndrome: A rare event or the tip of the iceberg?

Clorinda Brignola, Sara Volorio, Giovanna De Vecchi [...]

Tumori Journal

Retricted access

Research article

First published 2012-1

A Novel de Novo Mutation Within EFNB1 Gene in a Young Girl with Craniofrontonasal Syndrome

Despina Apostolopoulou, Alexander Stratoudakis, Angeliki Hatzaki [...]

The Cleft Palate Craniofacial Journal

Open access

Case report

First published 2024

Focal segmental glomerulosclerosis and neurogenic bladder in a Chinese patient with a novel de novo pathogenic variation in TRIM8 gene: A case report

Di-Yi Luo, Yan Long, Li-Li Liu [...]

Sage Open Medical Case Reports

Open access

Review article

First published 2016

Computational Identification of Novel Genes: Current and Future Perspectives

Steffen Klasberg, Tristan Bitard-Feildel, Ludovic Mallet

Bioinformatics and Biology Insights

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