1. Brain malformations and cognitive performance in spina bifida. (2nd November 2020) Authors: Schneider, Joanna; Mohr, Naomi; Aliatakis, Niko; Seidel, Ulrich; John, Rainer; Promnitz, Gabriel; Spors, Birgit; Kaindl, Angela M Journal: Developmental medicine & child neurology Issue: Volume 63:Number 3(2021) Page Start: 295 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Cerebral Abnormalities in Spina Bifida: A Neuropathological Study. (March 2022) Authors: Paschereit, Fabienne; Schindelmann, Kim Hannah; Hummel, Michael; Schneider, Joanna; Stoltenburg-Didinger, Gisela; Kaindl, Angela M Journal: Pediatric and developmental pathology Issue: Volume 25:Number 2(2022) Page Start: 107 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Diagnostic approach to microcephaly in childhood: a two‐center study and review of the literature. (12th March 2014) Authors: von der Hagen, Maja; Pivarcsi, Mark; Liebe, Juliane; von Bernuth, Horst; Didonato, Nataliya; Hennermann, Julia B; Bührer, Christoph; Wieczorek, Dagmar; Kaindl, Angela M Journal: Developmental medicine & child neurology Issue: Volume 56:Number 8(2014:Aug.) Page Start: 732 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders. Issue 22 (25th June 2021) Authors: Ravindran, Ethiraj; Jühlen, Ramona; Vieira-Vieira, Carlos H; Ha, Thuong; Salzberg, Yuval; Fichtman, Boris; Luise-Becker, Lena; Martins, Nuno; Picker-Minh, Sylvie; Bessa, Paraskevi; Arts, Peer; Jackson, Matilda R; Taranath, Ajay; Kamien, Benjamin; Barnett, Christopher; Li, Na; Tarabykin, Victor; S... Journal: Human molecular genetics Issue: Volume 30:Issue 22(2021) Page Start: 2068 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study. (January 2022) Authors: Weiß, Claudia; Ziegler, Andreas; Becker, Lena-Luise; Johannsen, Jessika; Brennenstuhl, Heiko; Schreiber, Gudrun; Flotats-Bastardas, Marina; Stoltenburg, Corinna; Hartmann, Hans; Illsinger, Sabine; Denecke, Jonas; Pechmann, Astrid; Müller-Felber, Wolfgang; Vill, Katharina; Blaschek, Astrid; Smitka... Journal: Lancet Issue: Volume 6:Number 1(2022) Page Start: 17 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Homozygous mutation in MCM7 causes autosomal recessive primary microcephaly and intellectual disability. Issue 5 (31st May 2021) Authors: Ravindran, Ethiraj; Gutierrez de Velazco, Cynthia; Ghazanfar, Ali; Kraemer, Nadine; Zaqout, Sami; Waheed, Abdul; Hanif, Mohsan; Mughal, Sadia; Prigione, Alessandro; Li, Na; Fang, Xiang; Hu, Hao; Kaindl, Angela M Journal: Journal of medical genetics Issue: Volume 59:Issue 5(2022) Page Start: 453 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Interferon receptor dysfunction in a child with malignant atrophic papulosis and CNS involvement. Issue 8 (August 2022) Authors: Becker, Lena-Luise; Ebstein, Frédéric; Horn, Denise; Zouboulis, Christos C; Krüger, Elke; Kaindl, Angela M; Tietze, Anna; Eger, Angelika; Kallinich, Tilmann; Biskup, Saskia; Schmid, Simone; Stenzel, Werner; Münzfeld, Hanna; Blume-Peytavi, Ulrike Journal: Lancet neurology Issue: Volume 21:Issue 8(2022) Page Start: 682 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Subtelomeric methylation distinguishes between subtypes of Immunodeficiency, Centromeric instability and Facial anomalies syndrome. (13th August 2018) Authors: Toubiana, Shir; Velasco, Guillaume; Chityat, Adi; Kaindl, Angela M; Hershtig, Noam; Tzur-Gilat, Aya; Francastel, Claire; Selig, Sara Journal: Human molecular genetics Issue: Volume 27:Number 20(2018:Oct. 15) Page Start: 3568 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Systematic Classification of Spina Bifida. Issue 4 (12th February 2021) Authors: Schindelmann, Kim Hannah; Paschereit, Fabienne; Steege, Alexandra; Stoltenburg-Didinger, Gisela; Kaindl, Angela M Journal: Journal of neuropathology and experimental neurology Issue: Volume 80:Issue 4(2021) Page Start: 294 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗