Generation of induced pluripotent stem cells (ARO-iPSC1-11) from a patient with autosomal recessive osteopetrosis harboring the c.212 + 1G > T mutation in SNX10 gene by Maojia Xu, Eva-lena Stattin, Mary Murphy, Frank Barry

Get full text

Symptoms and ECG changes precede sudden cardiac death in hypertrophic cardiomyopathy-A nationwide study among the young in Sweden. by Erik Börjesson, Bodil Svennblad, Aase Wisten, Mats Börjesson, Eva-Lena Stattin

Get full text

Long-read sequencing and optical mapping generates near T2T assemblies that resolves a centromeric translocation by Esmee ten Berk de Boer, Adam Ameur, Ignas Bunikis, Marlene Ek, Eva-Lena Stattin, Lars Feuk, Jesper Eisfeldt, Anna Lindstrand

Get full text

Cohort profile: the Swedish study of SUDden cardiac Death in the Young (SUDDY) 2000–2010: a complete nationwide cohort of SCDs by Mats Borjesson, Bodil Svennblad, Emil Hagström, Joakim Klar, Niklas Dahl, Anneli Strömsöe, Eva-Lena Stattin, Angelica Maria Delgado-Vega, Aase Wisten

Get full text

Palmoplantar keratoderma and digital clubbing in 2 sisters with hypertrophic osteoarthropathy by Daniel Eriksson, MD, PhD, David Gyll, MD, Marie Virtanen, MD, Niklas Dahl, MD, PhD, Joakim Klar, PhD, Eva-Lena Stattin, MD, PhD

Get full text

Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations. by Zheng Wang, Aritoshi Iida, Noriko Miyake, Koji M Nishiguchi, Kosuke Fujita, Toru Nakazawa, Abdulrahman Alswaid, Mohammed A Albalwi, Ok-Hwa Kim, Tae-Joon Cho, Gye-Yeon Lim, Bertrand Isidor, Albert David, Cecilie F Rustad, Else Merckoll, Jostein Westvik, Eva-Lena Stattin, Giedre Grigelioniene, Ikuyo Kou, Masahiro Nakajima, Hirohumi Ohashi, Sarah Smithson, Naomichi Matsumoto, Gen Nishimura, Shiro Ikegawa

Get full text