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Search for publications relevant for "Beckwith-Wiedemann syndrome"
Beckwith-Wiedemann syndrome
Publication
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Person
Publication
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publication
A rare cause of hypoglycemia in a newborn -Beckwith-Wiedemann syndrome
2013 |
Faculty of Medicine in Pilsen
publication
Severe Hyperinsulinaemic Hypoglycaemia in Beckwith-Wiedemann Syndrome due to Paternal Uniparental Disomy of 11p15.5 Managed with Sirolimus Therapy
2016 |
Second Faculty of Medicine
publication
Beckwith - Wiedemann syndrom: Orofacial and other findings - overview of 15 families
2004 |
First Faculty of Medicine
publication
Beckwith - Wiedemann syndrom: Orofacial and other findings - overview of 15 families
2004 |
Faculty of Physical Education and Sport
publication
Hepatoblastoma, etiology, case reports
2016 |
Second Faculty of Medicine
publication
Genomic imprinting and human pathology
2005 |
Third Faculty of Medicine
publication
Overgrowth in children and in adults: novel clinical view, novel genes, novel phenotypes
2017 |
Second Faculty of Medicine
publication
Genome-wide uniparental diploidy of all paternal chromosomes in an 11-year-old girl with deafness and without malignancy
2018 |
Second Faculty of Medicine
publication
Ověření nálezu změn metylace z analýzy MS-MLPA metodou přímé Sangerovy sekvenace po bisulfitové konverzi - využití v klinické laboratoři, výhody a limitace metody
2022 |
Second Faculty of Medicine
publication
Current perspectives on the aetiology of tall stature in children and adolescents (1): Syndromes associated with tall stature
2022 |
Second Faculty of Medicine
publication
Ověření nálezu změn metylace z analýzy MS-MLPA metodou přímé Sangerovy sekvenace po bisulfitové konverzi – optimalizace pro diagnostiku
2023 |
Second Faculty of Medicine