Hasil Pencarian - Jerome Juengling
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The clinical phenotype with gastrostomy and abdominal wall infection in a pediatric patient with Takenouchi-Kosaki syndrome due to a heterozygous c.191A > G (p.Tyr64Cys) variant in... oleh Aleksandra Szczawińska-Popłonyk, Natalia Popłonyk, Magdalena Badura-Stronka, Magdalena Badura-Stronka, Jerome Juengling, Kerstin Huhn, Saskia Biskup, Saskia Biskup, Bartłomiej Bancerz, Jarosław Walkowiak
Diterbitkan 2023-06-01
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Case report: KPTN gene-related syndrome associated with a spectrum of neurodevelopmental anomalies including severe epilepsy oleh Svea Horn, Svea Horn, Magdalena Danyel, Magdalena Danyel, Nina Erdmann, Nina Erdmann, Felix Boschann, Felix Boschann, Cecilia Gunnarsson, Cecilia Gunnarsson, Cecilia Gunnarsson, Saskia Biskup, Jerome Juengling, Cornelia Potratz, Cornelia Potratz, Christine Prager, Christine Prager, Angela M. Kaindl, Angela M. Kaindl, Angela M. Kaindl
Diterbitkan 2023-01-01
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