A Aralex Aachen research explorer

Search

From

To

Institution

Field

Type

Open access only Cited by patents (Lens) Include non-Aachen papers (citing/cited)

Papers matching “autosomal recessive inheritance” 3

Sort: Relevance Cited Newest Oldest Fwci Patents ⇩ CSV

Not finding it? Sign in to also search OpenAlex live.

Mutations in NSUN3, a Mitochondrial Methyl Transferase Gene, Cause Inherited Optic Neuropathy
2024 Genes article Neuroscience Hereditary Neurological Disorders Open access

Cansu de Muijnck, Jacoline B. ten Brink, Hugoline G. de Haan, Richard J. Rodenburg, Nicole I. Wolf, Arthur A B Bergen, +2 more

7

citations
Bi-allelic truncating mutations in VWA1 cause neuromyopathy
2020 Brain article Neuroscience Hereditary Neurological Disorders Open access

Marcus Deschauer, Holger Hengel, Katrin Rupprich, Martina Kreiß, Beate Schlotter‐Weigel, Mona Grimmel, +21 more

39

citations
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia
2022 Annals of Neurology article Neuroscience Hereditary Neurological Disorders Open access

Daniel G. Calame, Isabella Herman, Reza Maroofian, Aren E. Marshall, Karina Carvalho Donis, Jawid M. Fatih, +58 more

9

citations

3 results