by Fredwall, Svein O, Steen, Unni, de Vries, Olga, Rustad, Cecilie F, Eggesbø, Heidi Beate, Weedon-Fekjær, Harald, Lidal, Ingeborg B, Savarirayan, Ravi, Månum, Grethe
Published in Orphanet journal of rare diseases (25.05.2020)

by Fredwall, Svein O, Åberg, Björn, Berdal, Hanne, Savarirayan, Ravi, Solheim, Jorunn
Published in Orphanet journal of rare diseases (04.11.2021)

by Cormier-Daire, Valerie, AlSayed, Moeenaldeen, Ben-Omran, Tawfeg, de Sousa, Sérgio Bernardo, Boero, Silvio, Fredwall, Svein O, Guillen-Navarro, Encarna, Irving, Melita, Lampe, Christian, Maghnie, Mohamad, Mortier, Geert, Peijin, Zagorka, Mohnike, Klaus
Published in Orphanet journal of rare diseases (31.07.2021)

by Fredwall, Svein O, Linge, Jennifer, de Vries, Olga, Leinhard, Olof Dahlqvist, Eggesbø, Heidi Beate, Weedon-Fekjær, Harald, Petersson, Mikael, Widholm, Per, Månum, Grethe, Savarirayan, Ravi
Published in Orphanet journal of rare diseases (22.02.2023)

by Fredwall, Svein O, Øverland, Britt, Berdal, Hanne, Berg, Søren, Weedon-Fekjær, Harald, Lidal, Ingeborg B, Savarirayan, Ravi, Månum, Grethe
Published in Orphanet journal of rare diseases (07.04.2021)

by Savarirayan, Ravi, Baratela, Wagner, Butt, Thomas, Cormier-Daire, Valérie, Irving, Melita, Miller, Bradley S, Mohnike, Klaus, Ozono, Keiichi, Rosenfeld, Ron, Selicorni, Angelo, Thompson, Dominic, White, Klane K, Wright, Michael, Fredwall, Svein O
Published in Orphanet journal of rare diseases (13.06.2022)

by Fredwall, Svein O, Steen, Unni, de Vries, Olga, Rustad, Cecilie F, Eggesba, Heidi Beate, Weedon-Fekjaer, Harald, Lidal, Ingeborg B, Savarirayan, Ravi, Månum, Grethe
Published in Orphanet journal of rare diseases (07.12.2020)

by Fredwall, Svein O., Maanum, Grethe, Johansen, Heidi, Snekkevik, Hildegun, Savarirayan, Ravi, Lidal, Ingeborg B.
Published in Clinical genetics (01.01.2020)

by Billich, Natassja, O’Brien, Katie, Fredwall, Svein O., Lee, Michelle, Savarirayan, Ravi, Davidson, Zoe E.
Published in Genetics in medicine (01.10.2023)

by Savarirayan, Ravi, Hoover-Fong, Julie, Yap, Patrick, Fredwall, Svein O
Published in The lancet child & adolescent health (01.04.2024)

by Fredwall, Svein O., Linge, Jennifer, Leinhard, Olof Dahlqvist, Kjønigsen, Lisa, Eggesbø, Heidi Beate, Weedon-Fekjær, Harald, Lidal, Ingeborg Beate, Månum, Grethe, Savarirayan, Ravi, Tonstad, Serena
Published in Genetics in medicine (01.04.2021)

by Madsen, Andrea, Fredwall, Svein O., Maanum, Grethe, Henriksen, Christine, Slettahjell, Hanne B.
Published in American journal of medical genetics. Part A (01.09.2019)

by Fredwall, Svein O, Linge, Jennifer, Leinhard, Olof Dahlqvist, Kjønigsen, Lisa, Eggesbø, Heidi Beate, Weedon-Fekjær, Harald, Lidal, Ingeborg Beate, Månum, Grethe, Savarirayan, Ravi, Tonstad, Serena
Published in Genetics in medicine (01.11.2021)