Orphanet Journal of Rare Diseases

Journal Abbreviation: ORPHANET J RARE DIS
ISSN: 1750-1172
Publisher: BioMed Central

Publications (34)

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Unpublished / Preprint

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Abstract

Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma (2016) Mauri L, Uebe S, Sticht H, Vossmerbaeumer U, Weisschuh N, Manfredini E, Maselli E, et al. Journal article SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss (2016) Buchert R, Nesbitt AI, Tawamie H, Krantz ID, Medne L, Helbig I, Matalon DR, et al. Journal article 47 patients with FLNA associated periventricular nodular heterotopia (2015) Lange M, Kasper B, Bohring A, Rutsch F, Kluger G, Hoffjan S, Spranger S, et al. Journal article Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome (2014) Van Rahden VA, Rau I, Fuchs S, Kosyna FK, De Almeida HL, Fryssira H, Isidor B, et al. Journal article
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