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Rasopathy-Associated Mutation Ptpn11D61Y has Age-Dependent Effect on Synaptic Vesicle Recycling

2024 . Guhathakurta, Debarpan | Selzam, Franziska | Petrušková, Aneta | Weiss, Eva-Maria | akdas, Enes Yagiz | Montenegro Venegas, Carolina | Zenker, Martin | Fejtova, Anna

Disrupted extracellular matrix and cell cycle genes in autism-associated Shank3 deficiency are targeted by lithium

2023 . Ioannidis, Valentin | Pandey, Rakshita | Bauer, Helen Friedericke | Schön, Michael | Bockmann, Jürgen | Boeckers, Tobias | Lutz, Anne-Kathrin

Psychobehavioural and Cognitive Adverse Events of Anti-Seizure Medications for the Treatment of Developmental and Epileptic Encephalopathies

2022 . Strzelczyk, Adam | Schubert-Bast, Susanne

Developmental delay and its predictors among children under five years of age with uncomplicated severe acute malnutrition: a cross-sectional study in rural Pakistan

2021 . Saleem, Javeria | Zakar, Rubeena | Bukhari, Gul Mehar Javaid | Fatima, Aneela | Fischer, Florian

A Novel Multi-Exon Deletion of PACS1 in a Three-Generation Pedigree: Supplements to PACS1 Neurodevelopmental Disorder Spectrum

2021 . Liu, Yuan | Ding, Hongke | Yan, Tizhen | Liu, Ling | Yu, Lihua | Huang, Yanlin | Li, Fake | Zeng, Yukun | Huang, Weiwei | Zhang, Yan | Yin, Aihua

Treatment of mid-trimester preterm premature rupture of membranes (PPROM) with multi-resistant bacteria-colonized anhydramnion with continuous amnioinfusion and meropenem: a case report and literature review

2021 . Tchirikov, Michael | Ocker, Ronja | Seliger, Gregor | Chaoui, Katarina | Moritz, Stefan | Haase, Roland

Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions

2021 . Kehrer-Sawatzki, Hildegard | Cooper, David N.

ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants

2021 . Kloth, Katja | Lozic, Bernarda | Tagoe, Julia | Hoffer, Mariëtte J. V. | Van der Ven, Amelie | Thiele, Holger | Altmüller, Janine | Kubisch, Christian | Au, Ping Yee Billie | Denecke, Jonas | Bijlsma, Emilia K. | Lessel, Davor

Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability

First observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature review

2021 . Diel, Heidi | Ding, Can | Grehn, Franz | Chronopoulos, Panagiotis | Bartsch, Oliver | Hoffmann, Esther

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