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No evidence for preferential X-chromosome inactivation as the main cause of divergent phenotypes in sisters with X-linked hypohidrotic ectodermal dysplasia

2021 . Körber, Laura | Schneider, Holm | Fleischer, Nicole | Maier-Wohlfart, Sigrun

Currarino syndrome: a comprehensive genetic review of a rare congenital disorder

2021 . Dworschak, Gabriel | Reutter, Heiko M. | Ludwig, Michael

Structural alteration of lung parenchyma in patients with NF1: a phenotyping study using multidetector computed tomography (MDCT)

2021 . Avanesov, Maxim | Well, Lennart | Laqmani, Azien | Derlin, Thorsten | Riccardi, Vincent M. | Adam, Gerhard | Mautner, Victor-Felix | Salamon, Johannes

Sulthiame impairs mitochondrial function in vitro and may trigger onset of visual loss in Leber hereditary optic neuropathy

2021 . Reinert, Marie-Christine | Pacheu-Grau, David | Catarino, Claudia B. | Klopstock, Thomas | Ohlenbusch, Andreas | Schittkowski, Michael | Wilichowski, Ekkehard | Rehling, Peter | Brockmann, Knut

Smoking and alcohol, health-related quality of life and psychiatric comorbidities in Leber’s Hereditary Optic Neuropathy mutation carriers: a prospective cohort study

2021 . , Andrea | Catarino, Claudia B. | Rampeltshammer, Verena | Schindler, David | Gallenmüller, Constanze | Priglinger, Claudia | Pogarell, Oliver | Rüther, Tobias | Klopstock, Thomas

Supportive care needs of patients with rare chronic diseases: multi-method, cross-sectional study

2021 . Depping, Miriam Katharina | Uhlenbusch, Natalie | von Kodolitsch, Yskert | Klose, Hans F. E. | Mautner, Victor-Felix | Löwe, Bernd

Perceived mental health in parents of children with rare congenital surgical diseases: a double ABCX model considering gender

2021 . Boettcher, Johannes | Zapf, Holger | Fuerboeter, Mareike | Nazarian, Rojin | Reinshagen, Konrad | Wiegand-Grefe, Silke | Boettcher, Michael

Retinal vessel tortuosity as a prognostic marker for disease severity in Fabry disease

2021 . Atiskova, Yevgeniya | Wildner, Jan | Spitzer, Martin Stephan | Aries, Charlotte | Muschol, Nicole | Dulz, Simon

Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG)

2020 . Taday, Roman | Grüneberg, Marianne | DuChesne, Ingrid | Reunert, Janine | Marquardt, Thorsten

Clinical features of genetically characterized types of hereditary angioedema with normal C1 inhibitor: a systematic review of qualitative evidence

2020 . Bork, Konrad | Machnig, Thomas | Wulff, Karin | Witzke, Guenther | Prusty, Subhransu | Hardt, Jochen

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