Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Manuel R van Leusden

Truncated Type XVII Collagen Expression in a Patient With Non-Herlitz Junctional Epidermolysis Bullosa Caused by a Homozygous Splice-Site Mutation

Laboratory Investigation
Forensic MedicinePathologyCell BiologyMolecular Biology
2001English

Related publications

Junctional Epidermolysis Bullosa

2020English

A Family With Danon Disease Caused by a Splice Site Mutation in LAMP2 That Generates a Truncated Protein

Molecular genetics & genomic medicine
GeneticsMolecular Biology
2019English

Janus Kinase 3 Deficiency Caused by a Homozygous Synonymous Exonic Mutation That Creates a Dominant Splice Site

Journal of Allergy and Clinical Immunology
AllergyImmunology
2017English

Laminin 332 in Junctional Epidermolysis Bullosa

Cell Adhesion and Migration
Molecular NeuroscienceCell BiologyCellular
2013English

Junctional Epidermolysis Bullosa, Generalized Intermediate

2020English

Junctional Epidermolysis Bullosa: Allelic Heterogeneity and Mutation Stratification for Precision Medicine

Frontiers in Medicine
Medicine
2019English

Long-Term Follow-Up of a Spontaneously Improving Patient With Junctional Epidermolysis Bullosa Associated With ITGB4 C.3977-19t>A Splicing Mutation

Acta Dermato-Venereologica
DermatologyMedicine
2013English

A Neonate With Aplasia Cutis Congenita Type VI With Junctional Epidermolysis Bullosa: A Very Rare Condition

Medical Journal of Islamic World Academy of Sciences
2016English

Anesthetic Management of a Patient With Dystrophic Epidermolysis Bullosa.

THE JOURNAL OF JAPAN SOCIETY FOR CLINICAL ANESTHESIA
1998English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2026 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy