Nina Jäntti

PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants

Anders Kämpe, Alice Costantini, Riikka E. Mäkitie et al. · Osteoporosis International · 2017 · 50 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Two novel mutations in <i>XYLT2</i> cause spondyloocular syndrome

Fulya Taylan, Zehra Yavaş Abalı, Nina Jäntti et al. · American Journal of Medical Genetics Part A · 2017 · 26 citations

Life Sciences, Genetics, Molecular Genetics +15

Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants

Sofia Frisk, Alexandra Wachtmeister, Tobias Laurell et al. · Molecular Genetics & Genomic Medicine · 2022 · 25 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation

Karin Salehi Karlslätt, Maria Pettersson, Nina Jäntti et al. · Molecular Genetics & Genomic Medicine · 2019 · 22 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Identification of three novel<i>FGF16</i>mutations in X‐linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease

Tobias Laurell, Daniel Nilsson, Wolfgang Hofmeister et al. · Molecular Genetics & Genomic Medicine · 2014 · 19 citations · Full text

Medicine, Genetics, Molecular Genetics +17