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	1	Granulolysis in neurosecretory neurons of the rat supraoptico-posthypophyseal system Enthalten in Cell & tissue research Bd. 172, Nr. 1, date:9.1976: 39-58
	2	Author Correction: Targeted therapy in patients with PIK3CA-related overgrowth syndrome Enthalten in Nature Bd. 568, 3.4.2019, Nr. 7752, date:4.2019: E6
	3	Cherubism as a systemic skeletal disease: evidence from an aggressive case Enthalten in BMC musculoskeletal disorders Bd. 21, 21.8.2020, Nr. 1, date:12.2020: 1-8
	4	Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrum Enthalten in European journal of human genetics Bd. 33, 27.9.2024, Nr. 1, date:1.2025: 131-136
	5	Cluster analysis unveils a severe persistent respiratory impairment phenotype 3-months after severe COVID-19 Enthalten in Respiratory research Bd. 23, 2.8.2022, Nr. 1, date:12.2022: 1-10
	6	Gynecological issues in children and adolescents seen at rare-disease referral centers: an observational retrospective cohort study Enthalten in Orphanet journal of rare diseases Bd. 20, 11.3.2025, Nr. 1, date:12.2025: 1-9
	7	Next generation phenotyping for diagnosis and phenotype–genotype correlations in Kabuki syndrome Enthalten in Scientific reports Bd. 14, 28.1.2024, Nr. 1, date:12.2024: 1-15
	8	Next generation phenotyping using narrative reports in a rare disease clinical data warehouse Enthalten in Orphanet journal of rare diseases Bd. 13, 31.5.2018, Nr. 1, date:12.2018: 1-11
	9	Quality of life and phonatory and morphological outcomes in cognitively unimpaired adolescents with Pierre Robin sequence: a cross-sectional study of 72 patients Enthalten in Orphanet journal of rare diseases Bd. 16, 20.10.2021, Nr. 1, date:12.2021: 1-15
	10	Targeted therapy in patients with PIK3CA-related overgrowth syndrome Enthalten in Nature Bd. 558, 13.6.2018, Nr. 7711, date:6.2018: 540-546

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