1. Autosomal dominant brachyolmia in a large Swedish family: Phenotypic spectrum and natural course. Issue 7 (26th March 2014) Authors: Grigelioniene, Giedre; Geiberger, Stefan; Horemuzova, Eva; Moström, Eva; Jäntti, Nina; Neumeyer, Lo; Åström, Eva; Nordenskjöld, Magnus; Nordgren, Ann; Mäkitie, Outi Journal: American journal of medical genetics Issue: Volume 164:Issue 7(2014.) Page Start: 1635 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. Identification of three novel FGF16 mutations in X‐linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease. Issue 5 (14th May 2014) Authors: Laurell, Tobias; Nilsson, Daniel; Hofmeister, Wolfgang; Lindstrand, Anna; Ahituv, Nadav; Vandermeer, Julia; Amilon, Anders; Annerén, Göran; Arner, Marianne; Pettersson, Maria; Jäntti, Nina; Rosberg, Hans‐Eric; Cattini, Peter A.; Nordenskjöld, Agneta; Mäkitie, Outi; Grigelioniene, Giedre; Nordgren... Journal: Molecular genetics & genomic medicine Issue: Volume 2:Issue 5(2014:Sep.) Page Start: 402 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Two novel mutations in XYLT2 cause spondyloocular syndrome. Issue 12 (8th September 2017) Authors: Taylan, Fulya; Yavaş Abalı, Zehra; Jäntti, Nina; Güneş, Nilay; Darendeliler, Feyza; Baş, Firdevs; Poyrazoğlu, Şükran; Tamçelik, Nevbahar; Tüysüz, Beyhan; Mäkitie, Outi Journal: American journal of medical genetics Issue: Volume 173:Issue 12(2017) Page Start: 3195 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗