|
🐜
|
The IGSF1 deficiency syndrome: characteristics of male and female patients.
29 auth.
S. Joustra,
N. Schoenmakers,
L. Persani,
I. Campi,
M. Bonomi,
Giorgio Radetti,
Paolo Beck-Peccoz,
H. Zhu,
Timothy M. E. Davis,
Yu Sun,
E. Corssmit,
N M Appelman-Dijkstra,
C. Heinen,
Alberto M. Pereira,
A. Varewijck,
...
J. A. Janssen,
E. Endert,
R. Hennekam,
Maria Paola Lombardi,
M. Mannens,
B. Bąk,
Daniel J. Bernard,
M. Breuning,
Krishna Chatterjee,
M. Dattani,
W. Oostdijk,
N. Biermasz,
Jan-Maarten Wit,
A. S. P. V. Trotsenburg
|
6 |
2013 |
6
🐜
|
|
🐜
|
IGSF1 Deficiency: Lessons From an Extensive Case Series and Recommendations for Clinical Management
15 auth.
S. Joustra,
C. Heinen,
N. Schoenmakers,
M. Bonomi,
B. Ballieux,
Marc-Olivier Turgeon,
D. Bernard,
E. Fliers,
A. Trotsenburg,
M. Losekoot,
...
L. Persani,
J. Wit,
N. Biermasz,
A. Pereira,
W. Oostdijk
|
6 |
2016 |
6
🐜
|
|
🦁
|
A specific mutation in TBL1XR1 causes Pierpont syndrome
20 auth.
C. Heinen,
A. Jongejan,
P. Watson,
B. Redeker,
A. Boelen,
O. Boudzovitch-Surovtseva,
F. Forzano,
R. Hordijk,
R. Kelley,
A. Olney,
...
M. Pierpont,
G. B. Schaefer,
F. Stewart,
A. Trotsenburg,
E. Fliers,
J. Schwabe,
R. Hennekam,
CA Heinen,
Pj Watson,
Med Genet
|
5 |
2016 |
5
🦁
|
|
🦁
|
Genetic causes and neonatal diagnosis of congenital isolated central hypothyroidism
C. Heinen
|
5 |
2018 |
5
🦁
|
|
🐜
|
Spatial and temporal expression of immunoglobulin superfamily member 1 in the rat.
15 auth.
S. Joustra,
Onno C. Meijer,
C. Heinen,
I. Mol,
E. Laghmani,
R. M. A. Sengers,
G. Carreno,
A. van Trotsenburg,
N. Biermasz,
Daniel J. Bernard,
...
Jan M. Wit,
W. Oostdijk,
A. V. van Pelt,
G. Hamer,
G. Wagenaar
|
4 |
2014 |
4
🐜
|
|
🦁
|
Mutations in IRS4 are associated with central hypothyroidism
13 auth.
C. Heinen,
E. M. de Vries,
M. Alders,
H. Bikker,
N. Zwaveling-Soonawala,
E. L. van den Akker,
B. Bakker,
Gera Hoorweg-Nijman,
F. Roelfsema,
R. Hennekam,
...
A. Boelen,
A. S. V. van Trotsenburg,
E. Fliers
|
4 |
2018 |
4
🦁
|
|
🦁
|
Mutations in TBL1X Are Associated With Central Hypothyroidism
21 auth.
C. Heinen,
M. Losekoot,
Yu Sun,
Peter J. Watson,
L. Fairall,
S. Joustra,
N. Zwaveling-Soonawala,
W. Oostdijk,
Erica L. T. van den Akker,
M. Alders,
...
G. Santen,
Rick R. van Rijn,
W. Dreschler,
Olga V. Surovtseva,
N. Biermasz,
Raoul C. Hennekam,
Jan M. Wit,
John W. R. Schwabe,
A. Boelen,
E. Fliers,
A. van Trotsenburg
|
4 |
2016 |
4
🦁
|
|
🐜
|
Age-specific reference intervals for plasma free thyroxine and thyroid stimulating hormone in term neonates during the first two weeks of life.
9 auth.
J. C. Naafs,
C. Heinen,
N. Zwaveling-Soonawala,
S. V. D. van der Schoor,
V. van Tellingen,
A. Heijboer,
...
E. Fliers,
A. Boelen,
A. S. V. van Trotsenburg
|
3 |
2020 |
3
🐜
|
