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	1	10th European Conference on Rare Diseases & Orphan Products (ECRD 2020) Enthalten in Orphanet journal of rare diseases Bd. 15, 9.11.2020, Nr. 1, date:11.2020: 1-26
	2	10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France Enthalten in Orphanet journal of rare diseases Bd. 16, 4.8.2021, Nr. 1, date:12.2021: 1-14
	3	17p13.3 genomic rearrangement in a Chinese family with split-hand/foot malformation with long bone deficiency: report of a complicated duplication with marked variation in phenotype Enthalten in Orphanet journal of rare diseases Bd. 13, 3.7.2018, Nr. 1, date:12.2018: 1-9
	4	[18F]FDDNP performed better than [18F] Florbetapir to distinguish transthyretin cardiac amyloidosis (TTR-CA) patients from healthy controls: an ex vivo study Enthalten in Orphanet journal of rare diseases Bd. 10, 2.11.2015, Nr. 1, date:12.2015: 1
	5	[18F]FDG Positron emission tomography with whole body magnetic resonance imaging ([18F]FDG-PET/MRI) as a diagnosis tool in Schwannomatosis Enthalten in Orphanet journal of rare diseases Bd. 16, 28.1.2021, Nr. 1, date:12.2021: 1-5
	6	1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy Enthalten in Orphanet journal of rare diseases Bd. 16, 20.10.2021, Nr. 1, date:12.2021: 1-16
	7	20-year follow-up study of Danish HHT patients—survival and causes of death In: Orphanet journal of rare diseases Bd. 11, 22.11.2016, Nr. 1, date:12.2016: 1-8
	8	29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype In: Orphanet journal of rare diseases Bd. 9, 11.12.2014, Nr. 1, date:12.2014: 1-9
	9	3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces Enthalten in Orphanet journal of rare diseases Bd. 15, 14.2.2020, Nr. 1, date:12.2020: 1-8
	10	3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals In: Orphanet journal of rare diseases Bd. 7, 29.5.2012, Nr. 1, date:12.2012: 1-24

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