Search

Author/Creator Wit, Jan M

2. Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps. Issue 5 (23rd March 2022)

Authors:
Mericq, Veronica; Huang-Doran, Isabel; Al-Naqeb, Dhekra; Basaure, Javiera; Castiglioni, Claudia; de Bruin, Christiaan; Hendriks, Yvonne; Bertini, Enrico; Alkuraya, Fowzan S; Losekoot, Monique; Al-Rubeaan, Khalid; Semple, Robert K; Wit, Jan M
Journal:
European journal of endocrinology
Issue:
Volume 186:Issue 5(2022)
Page Start:
543
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Characterization of an activating R1353H insulin-like growth factor 1 receptor variant in a male with extreme tall height. Issue 2 (August 2018)

Authors:
Lin, Yingbo; van Duyvenvoorde, Hermine A; Liu, Hongyu; Yang, Chen; Warsito, Dudi; Yin, Chang; Kant, Sarina G; Haglund, Felix; Wit, Jan M; Larsson, Olle
Journal:
European journal of endocrinology
Issue:
Volume 179:Issue 2(2018)
Page Start:
85
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Clinical and biochemical characteristics and bone mineral density of homozygous, compound heterozygous and heterozygous carriers of three novel IGFALS mutations. Issue 6 (June 2017)

Authors:
Işık, Emregül; Haliloglu, Belma; van Doorn, Jaap; Demirbilek, Hüseyin; Scheltinga, Sitha A; Losekoot, Monique; Wit, Jan M
Journal:
European journal of endocrinology
Issue:
Volume 176:Issue 6(2017)
Page Start:
657
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗