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C. Van Lingen
C. Van Lingen
Hypergonadotropic hypogonadism
Muscle Hypotonia
Hypotonia
Neurological disorder
Muscular hypotonia
4
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19
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OP0277-PARE METABERN, THE EUROPEAN REFERENCE NETWORK FOR RARE HEREDITARY DISEASES: STRUCTURE, OBJECTIVES, METABOLIC RMDS AND THE ROLES OF EUROPEAN PATIENT ADVOCACY GROUPS (EPAGS)
2021
Annals of the Rheumatic Diseases
L. Wagner
S. Sestini
C. Brown
A Finglas
R. Francisco
S. Bond
Christina Lampe
C. Belettato
C. Van Lingen
Maurizio Scarpa
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The impact of COVID-19 on rare metabolic patients and healthcare providers: results from two MetabERN surveys.
2020
Orphanet Journal of Rare Diseases
Christina Lampe
Carlo Dionisi-Vici
Cinzia Maria Bellettato
L. Paneghetti
C. Van Lingen
S. Bond
C. Brown
A Finglas
R. Francisco
S. Sestini
Jean-Michel Heard
Maurizio Scarpa
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Citations (12)
Velocardiofaciaal syndroom. Een fenotypisch spectrum
1999
C. Van Lingen
Annick Vogels
Ann Swillen
Greet Vantrappen
Koenraad Devriendt
Jean-Pierre Fryns
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Two adult females with a distinct familial mental retardation syndrome: non-progressive neurological symptoms with ataxia and hypotonia, similar facial appearance, hypergonadotrophic hypogonadism, and retinal dystrophy.
1998
Journal of Medical Genetics
Jean-Pierre Fryns
C. Van Lingen
Koenraad Devriendt
Eric Legius
P Raus
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Citations (7)
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