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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

Preventing maternal phenylketonuria (PKU) syndrome: important factors to achieve good metabolic control throughout pregnancy

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

Quality of life and mental health of children with rare congenital surgical diseases and their parents during the COVID-19 pandemic

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

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

Direct and indirect costs and cost-driving factors in adults with tuberous sclerosis complex: a multicenter cohort study and a review of the literature

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