Disease: Meyenburg-Altherr-Uehlinger syndrome
- An Ashkenazi Jewish founder mutation in <em>CACNA1F</em> causes retinal phenotype in both hemizygous males and heterozygous female carriers
- Aplasia of the bone marrow; a new cause of the von Jaksch syndrome
- Association of sequence alterations in the putative promoter of RAB7L1 with a reduced parkinson disease risk
- Atrophy of the bone marrow, a new cause of the Jaksch-Hayem-Luzet syndrome
- Differential diagnosis of the saddle nose and perichondritis of the outer ear - the von Meyenburg-Altherr-Uehlinger syndrome (panchrondritis)
- Evaluation of computational genotyping of structural variation for clinical diagnoses
- Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers
- Jaksch-Hayem-Luzet syndrome. Hepatosplenomegaly, anemia pseudoleucaemica infantum. (3-Year observation)
- Polychondritis recidivans et atrophicans (v. Meyenburg-Altherr-Uehlinger-Syndrome)
- Recurrent polychondritis (von Meyenburg-Altherr-Uehlinger syndrome
- Systemic polychondritis (Meyenburg-Altherr-Uehlinger syndrome
- The Jaksch-Hayem syndrome-a reaction form of early childhood
- The Jaksch-Hayem-Luzet syndrome
- Von Jaksch's syndrome in a baby with congenital syphilis
- Von Jaksch's syndrome in congenital syphilis