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1 Ergebnisse
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Wide Fontanels, Delayed Speech Development and Hoarse Voice..:
Anna Kutkowska-Kaźmierczak
;
Maria Boczar
;
Ewa Kalka
...
Human Genomics and Genetic Diseases. , 2021
Link:
https://doi.org/10.3390/genes12081257
RT Journal T1
Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3
UL https://suche.suub.uni-bremen.de/peid=base-ftmdpi:oai:mdpi.com:_2073-4425_12_8_1257_&Exemplar=1&LAN=DE A1 Anna Kutkowska-Kaźmierczak A1 Maria Boczar A1 Ewa Kalka A1 Jennifer Castañeda A1 Jakub Klapecki A1 Aleksandra Pietrzyk A1 Artur Barczyk A1 Olga Malinowska A1 Aleksandra Landowska A1 Tomasz Gambin A1 Katarzyna Kowalczyk A1 Barbara Wiśniowiecka-Kowalnik A1 Marta Smyk A1 Mateusz Dawidziuk A1 Katarzyna Niepokój A1 Magdalena Paczkowska A1 Paweł Szyld A1 Beata Lipska-Ziętkiewicz A1 Krzysztof Szczałuba A1 Ewa Kostyk A1 Agata Runge A1 Karolina Rutkowska A1 Rafał Płoski A1 Beata Nowakowska A1 Jerzy Bal A1 Ewa Obersztyn A1 Monika Gos PB Multidisciplinary Digital Publishing Institute YR 2021 K1 KBG syndrome K1 ANKRD11 gene K1 16q24.3 K1 dysmorphic syndrome K1 wide K1 delayed closing fontanels K1 hoarse voice K1 speech delay K1 psychomotor hyperactivity K1 short stature JF Human Genomics and Genetic Diseases LK http://dx.doi.org/https://doi.org/10.3390/genes12081257 DO https://doi.org/10.3390/genes12081257 SF ELIB - SuUB Bremen
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