1. Bain type of X‐linked syndromic mental retardation in boys. Issue 6 (18th March 2019) Authors: Harmsen, Stefani; Buchert, Rebecca; Mayatepek, Ertan; Haack, Tobias B.; Distelmaier, Felix Journal: Clinical genetics Issue: Volume 95:Issue 6(2019) Page Start: 734 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. CCDC82 frameshift mutation associated with intellectual disability, spastic paraparesis, and dysmorphic features. Issue 1 (3rd April 2022) Authors: Bauer, Gregor; Buchert, Rebecca; Haack, Tobias B.; Harting, Inga; Gutschalk, Alexander Journal: Clinical genetics Issue: Volume 102:Issue 1(2022) Page Start: 80 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy. Issue 4 (14th July 2021) Authors: Rapp, Christina K.; Van Dijck, Ine; Laugwitz, Lucia; Boon, Mieke; Briassoulis, George; Ilia, Stavroula; Kammer, Birgit; Reu, Simone; Hornung, Stefanie; Buchert, Rebecca; Sofan, Linda; Froukh, Tawfiq; Witters, Peter; Rymen, Daisy; Haack, Tobias B.; Proesmans, Marijke; Griese, Matthias Journal: Clinical genetics Issue: Volume 100:Issue 4(2021) Page Start: 453 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Genetic basis of neurodevelopmental disorders in 103 Jordanian families. Issue 4 (1st March 2020) Authors: Froukh, Tawfiq; Nafie, Omar; Al Hait, Sana' A. S.; Laugwitz, Lucia; Sommerfeld, Julia; Sturm, Marc; Baraghiti, Aya; Issa, Tala; Al‐Nazer, Anis; Koch, Philipp A.; Hanselmann, Johannes; Kootz, Beate; Bauer, Peter; Al‐Ameri, Wael; Abou Jamra, Rami; Alfrook, Ayman J.; Hamadallah, Moath; Sofan, Linda;... Journal: Clinical genetics Issue: Volume 97:Issue 4(2020) Page Start: 621 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes. Issue 9 (16th October 2021) Authors: Laugwitz, Lucia; Seibt, Annette; Herebian, Diran; Peralta, Susana; Kienzle, Imke; Buchert, Rebecca; Falb, Ruth; Gauck, Darja; Müller, Amelie; Grimmel, Mona; Beck-Woedel, Stefanie; Kern, Jan; Daliri, Karim; Katibeh, Pegah; Danhauser, Katharina; Leiz, Steffen; Alesi, Viola; Baertling, Fabian; Vasco... Journal: Journal of medical genetics Issue: Volume 59:Issue 9(2022) Page Start: 878 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes. Issue 9 (16th October 2021) Authors: Laugwitz, Lucia; Seibt, Annette; Herebian, Diran; Peralta, Susana; Kienzle, Imke; Buchert, Rebecca; Falb, Ruth; Gauck, Darja; Müller, Amelie; Grimmel, Mona; Beck-Woedel, Stefanie; Kern, Jan; Daliri, Karim; Katibeh, Pegah; Danhauser, Katharina; Leiz, Steffen; Alesi, Viola; Baertling, Fabian; Vasco... Journal: Journal of medical genetics Issue: Volume 59:Issue 9(2022) Page Start: 878 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Inhibition of RAS Activation Due to a Homozygous Ezrin Variant in Patients with Profound Intellectual Disability. Issue 2 (February 2015) Authors: Riecken, Lars Björn; Tawamie, Hasan; Dornblut, Carsten; Buchert, Rebecca; Ismayel, Amina; Schulz, Alexander; Schumacher, Johannes; Sticht, Heinrich; Pohl, Katja J.; Cui, Yan; Reis, André; Morrison, Helen; Abou Jamra, Rami Journal: Human mutation Issue: Volume 36:Issue 2(2015:Feb.) Page Start: 270 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss. Issue 1 (December 2016) Authors: Buchert, Rebecca; Nesbitt, Addie; Tawamie, Hasan; Krantz, Ian; Medne, Livija; Helbig, Ingo; Matalon, Dena; Reis, André; Santani, Avni; Sticht, Heinrich; Abou Jamra, Rami Journal: Orphanet journal of rare diseases Issue: Volume 11:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗