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Retrospective longitudinal study on the long-term impact of COVID-19 infection on polysomnographic evaluation in patients with Prader-Willi syndrome

2024 . Braun, Sina | Laemmer, Constanze | Schulte, Sandra | Gohlke, Bettina

Objective measurement of oral function in adults with spinal muscular atrophy

2023 . Kruse, Teresa | Shamai, S. | Leflerovà, D. | Wirth, B. | Heller, R. | Schloss, N. | Lehmann, H. C. | Brakemeier, S. | Hagenacker, T. | Braumann, B. | Wunderlich, G.

The first European consensus on principles of management for achondroplasia

2021 . Cormier-Daire, Valerie | AlSayed, Moeenaldeen | Ben-Omran, Tawfeg | de Sousa, Sérgio Bernardo | Boero, Silvio | Fredwall, Svein O. | Guillen-Navarro, Encarna | Irving, Melita | Lampe, Christian | Maghnie, Mohamad | Mortier, Geert | Peijin, Zagorka | Mohnike, Klaus

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

The European Rare Kidney Disease Registry (ERKReg): objectives, design and initial results

Direct and indirect costs and cost-driving factors of Tuberous sclerosis complex in children, adolescents, and caregivers: a multicenter cohort study

Impact of glycogen storage disease type I on adult daily life: a survey

2021 . Garbade, Sven F. | Ederer, Viviane | Burgard, Peter | Wendel, Udo | Spiekerkoetter, Ute | Haas, Dorothea | Grünert, Sarah Catharina

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

Increased risk of chronic fatigue and hair loss following COVID-19 in individuals with hypohidrotic ectodermal dysplasia

2021 . Hennig, Verena | Schuh, Wolfgang | Neubert, Antje | Mielenz, Dirk | Jäck, Hans-Martin | Schneider, Holm

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