E-LIB Suche - Ergebnisse für: Joustra, Sjoerd D

1

Characterization of HMGA2 variants expands the spectrum of ..:

Maharaj, Avinaash V. ; Cottrell, Emily ; Thanasupawat, Thatchawan...
JCI Insight. 9 (2024) 6 - p. , 2024

Link: https://doi.org/10.1172/..

2

Genetic findings in short Turkish children born to consangu..:

Joustra, Sjoerd D. ; Isik, Emregul ; Wit, Jan M....
Hormone Research in Paediatrics. , 2024

Link: https://doi.org/10.1159/..

3

Assessment of Nutritional Status in the Diagnostic Evaluati..:

Vlaardingerbroek, Hester ; Joustra, Sjoerd D. ; Oostdijk, Wilma..
Hormone Research in Paediatrics. 97 (2023) 1 - p. 11-21 , 2023

Link: https://doi.org/10.1159/..

4

Long-acting PEGylated growth hormone in children with idiop..:

Wit, Jan M ; Joustra, Sjoerd D
European Journal of Endocrinology. 188 (2023) 1 - p. R1-R4 , 2023

Link: https://doi.org/10.1093/..

5

Ways to Improve the Diagnosis of Growth Hormone Deficiency:

Wit, Jan M. ; Vliegenthart, Joeri ; Joustra, Sjoerd D....
Hormone Research in Paediatrics. 95 (2022) 1 - p. 93-96 , 2022

Link: https://doi.org/10.1159/..

6

Case Report: A Detailed Phenotypic Description of Patients ..:

Elizabeth, Melitza S. M. ; Hokken-Koelega, Anita ; Visser, Jenny A...
Genes. 13 (2022) 4 - p. 623 , 2022

Link: https://doi.org/10.3390/..

7

IGSF1 Does Not Regulate Spermatogenesis or Modify FSH Synth..:

Brûlé, Emilie ; Heinen, Charlotte A ; Smith, Courtney L...
Journal of the Endocrine Society. 5 (2021) 4 - p. , 2021

Link: https://doi.org/10.1210/..

8

Differential Diagnosis of the Short IGF-I-Deficient Child w..:

Wit, Jan M. ; Joustra, Sjoerd D. ; Losekoot, Monique..
Hormone Research in Paediatrics. 94 (2021) 3-4 - p. 81-104 , 2021

Link: https://doi.org/10.1159/..

9

Response to Letter to the Editor: "IGSF1 Deficiency Results..:

Joustra, Sjoerd D ; Roelfsema, Ferdinand ; van Trotsenburg, A S Paul...
The Journal of Clinical Endocrinology & Metabolism. 105 (2020) 6 - p. e2315-e2316 , 2020

Link: https://doi.org/10.1210/..

10

Novel Clinical Criteria Allow Detection of Short Stature Ho..:

Joustra, Sjoerd D. ; Kamp, Gerdine A. ; Stalman, Susanne E....
Hormone Research in Paediatrics. 92 (2019) 6 - p. 372-381 , 2019

Link: https://doi.org/10.1159/..

11

IGSF1 Deficiency Results in Human and Murine Somatotrope Ne..:

Joustra, Sjoerd D ; Roelfsema, Ferdinand ; van Trotsenburg, A S Paul...
The Journal of Clinical Endocrinology & Metabolism. 105 (2019) 3 - p. e70-e84 , 2019

Link: https://doi.org/10.1210/..

12

From Consternation to Revelation: Discovery of a Role for I..:

Bernard, Daniel J ; Brûlé, Emilie ; Smith, Courtney L..
Journal of the Endocrine Society. 2 (2018) 3 - p. 220-231 , 2018

Link: https://doi.org/10.1210/..

13

TRH Action Is Impaired in Pituitaries of Male IGSF1-Deficie..:

Turgeon, Marc-Olivier ; Silander, Tanya L. ; Doycheva, Denica...
Endocrinology. 158 (2017) 4 - p. 815-830 , 2017

Link: https://doi.org/10.1210/..

14

The short mRNA isoform of the immunoglobulin superfamily, m..:

Wang, Ying ; Brûlé, Emilie ; Silander, Tanya...
PLOS ONE. 12 (2017) 7 - p. e0180731 , 2017

Link: https://doi.org/10.1371/..

15

Mutations in TBL1X Are Associated With Central Hypothyroidi..:

Heinen, Charlotte A. ; Losekoot, Monique ; Sun, Yu...
The Journal of Clinical Endocrinology & Metabolism. 101 (2016) 12 - p. 4564-4573 , 2016

Link: https://doi.org/10.1210/..