1. A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1. Issue 2 (18th November 2020) Authors: Pontén, Emeli; Frisk, Sofia; Taylan, Fulya; Vaz, Raquel; Wessman, Sandra; de Kock, Leanne; Pal, Niklas; Foulkes, William D; Lagerstedt-Robinson, Kristina; Nordgren, Ann Journal: Journal of medical genetics Issue: Volume 59:Issue 2(2022) Page Start: 141 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. CRTAP variants in early‐onset osteoporosis and recurrent fractures. Issue 3 (30th November 2016) Authors: Costantini, Alice; Vuorimies, Ilkka; Mäkitie, Riikka; Mäyränpää, Mervi K.; Becker, Jutta; Pekkinen, Minna; Valta, Helena; Netzer, Christian; Kämpe, Anders; Taylan, Fulya; Jiao, Hong; Mäkitie, Outi Journal: American journal of medical genetics Issue: Volume 173:Issue 3(2017) Page Start: 806 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants. Issue 4 (4th February 2022) Authors: Frisk, Sofia; Wachtmeister, Alexandra; Laurell, Tobias; Lindstrand, Anna; Jäntti, Nina; Malmgren, Helena; Lagerstedt‐Robinson, Kristina; Tesi, Bianca; Taylan, Fulya; Nordgren, Ann Journal: Molecular genetics & genomic medicine Issue: Volume 10:Issue 4(2022) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Different mutations in PDE4D associated with developmental disorders with mirror phenotypes. Issue 1 (7th November 2013) Authors: Lindstrand, Anna; Grigelioniene, Giedre; Nilsson, Daniel; Pettersson, Maria; Hofmeister, Wolfgang; Anderlid, Britt-Marie; Kant, Sarina G.; Ruivenkamp, Claudia A L; Gustavsson, Peter; Valta, Helena; Geiberger, Stefan; Topa, Alexandra; Lagerstedt-Robinson, Kristina; Taylan, Fulya; Wincent, Josephin... Journal: Journal of medical genetics Issue: Volume 51:Issue 1(2014) Page Start: 45 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth. Issue 2 (9th May 2019) Authors: Frisk, Sofia; Taylan, Fulya; Blaszczyk, Izabela; Nennesmo, Inger; Annerén, Göran; Herm, Bettina; Stattin, Eva‐Lena; Zachariadis, Vasilios; Lindstrand, Anna; Tesi, Bianca; Laurell, Tobias; Nordgren, Ann Journal: Clinical genetics Issue: Volume 96:Issue 2(2019) Page Start: 118 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Front Cover. Issue 6 (14th November 2018) Authors: Kvarnung, Malin; Taylan, Fulya; Nilsson, Daniel; Anderlid, Britt‐Marie; Malmgren, Helena; Lagerstedt‐Robinson, Kristina; Holmberg, Eva; Burstedt, Magnus; Nordenskjöld, Magnus; Nordgren, Ann; Lundberg, Elisabeth S. Journal: Clinical genetics Issue: Volume 94:Issue 6(2018) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability. Issue 6 (15th October 2018) Authors: Kvarnung, Malin; Taylan, Fulya; Nilsson, Daniel; Anderlid, Britt‐Marie; Malmgren, Helena; Lagerstedt‐Robinson, Kristina; Holmberg, Eva; Burstedt, Magnus; Nordenskjöld, Magnus; Nordgren, Ann; Lundberg, Elisabeth S. Journal: Clinical genetics Issue: Volume 94:Issue 6(2018) Page Start: 528 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Intragenic Copy Number Variation in the Filaggrin Gene in Ethiopian Patients with Atopic Dermatitis. Issue 3 (10th March 2017) Authors: Fernandez, Kerstin; Asad, Samina; Taylan, Fulya; Wahlgren, Carl‐Fredrik; Bilcha, Kassahun D.; Nordenskjöld, Magnus; Winge, Mårten C.G.; Bradley, Maria Journal: Pediatric dermatology Issue: Volume 34:Issue 3(2017:May/Jun.) Page Start: e140 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Microdeletion of 7p12.1p13, including IKZF1, causes intellectual impairment, overgrowth, and susceptibility to leukaemia. (13th July 2018) Authors: Järviaho, Tekla; Zachariadis, Vasilios; Tesi, Bianca; Chiang, Samuel; Bryceson, Yenan T.; Möttönen, Merja; Niinimäki, Riitta; Bang, Benedicte; Rahikkala, Elisa; Taylan, Fulya; Uusimaa, Johanna; Harila‐Saari, Arja; Nordgren, Ann Journal: British journal of haematology Issue: Volume 185:Number 2(2019) Page Start: 354 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Mosaic Deletions of Known Genes Explain Skeletal Dysplasias With High and Low Bone Mass. (5th July 2022) Authors: Muurinen, Mari; Taylan, Fulya; Tournis, Symeon; Eisfeldt, Jesper; Balanika, Alexia; Vastardis, Heleni; Ala‐Mello, Sirpa; Mäkitie, Outi; Costantini, Alice Journal: JBMR plus Issue: Volume 6:Number 8(2022) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗