Autor/in Pfundt, Rolph Bierhals, Tatjana 1 Casar, Christian 1 Chopra, Maya 1 Clayton-Smith, Jill 1 Dingemans, Alexander J M 1 Fischer, Jan 1 Girisha, Katta M 1 Harms, Frederike L 1 Hempel, Maja 1 Hübner, Christoph 1 Jahn, Arne 1 Kaur, Anupriya 1 Kaur, Parneet 1 Mancini, Grazia M S 1 McEntagart, Meriel 1 Müller, Christian 1 Niermeijer, Jikke-Mien F 1 Platzer, Konrad 1 Shukla, Anju 1 Veenstra-Knol, Hermine 1 alle zeigenListe einklappen
de novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias Harms, Frederike L Dingemans, Alexander J M Hempel, Maja Pfundt, Rolph Bierhals, Tatjana Casar, Christian Müller, Christian 2023 - Forschungsinformationssystem des UKE
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism Chopra, Maya McEntagart, Meriel Clayton-Smith, Jill Platzer, Konrad Shukla, Anju Girisha, Katta M Kaur, Anupriya 2021 - Forschungsinformationssystem des UKE
