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J

Jan M. Wit

leiden university
H指数:74
被引数:1.8万

个人简介

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Loss-of-Function GHSR Variants Are Associated With Short Stature and Low IGF-I
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
IF5.1
2025-01-091
OA
Punt, Lauren D.; Kooijman, Sander; Mutsters, Noa J. M.; Yue, Kaiming; van der Kaay, Danielle C. M.; van Tellingen, Vera; Bakker-van Waarde, Willie M.; Boot, Annemiek M.; van den Akker, Erica L. T.; van Boekholt, Anneke A.; de Groote, Kirsten; Kruijsen, Anne R.; van Nieuwaal-van Maren, Nancy H. G.; Woltering, M. Claire; Heijligers, Malou; van der Heyden, Josine C.; Bannink, Ellen M. N.; Rinne, Tuula; Hannema, Sabine E.; de Waal, Wouter J.; Delemarre, Lucia C.; Rensen, Patrick C. N.; de Bruin, Christiaan; van Duyvenvoorde, Hermine A.; Visser, Jenny A.; Delhanty, Patric J. D.; Losekoot, Monique; Wit, Jan M.; Joustra, Sjoerd D.
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2021-01-0147
OAAI
Lin, Yuh-Charn; Niceta, Marcello; Muto, Valentina; Vona, Barbara; Pagnamenta, Alistair T.; Maroofian, Reza; Beetz, Christian; van Duyvenvoorde, Hermine; Dentici, Maria Lisa; Lauffer, Peter; Vallian, Sadeq; Ciolfi, Andrea; Pizzi, Simone; Bauer, Peter; Gruening, Nana-Maria; Bellacchio, Emanuele; Del Fattore, Andrea; Petrini, Stefania; Shaheen, Ranad; Tiosano, Dov; Halloun, Rana; Ben Pode-Shakked; Albayrak, Hatice Mutlu; Isik, Emreguel; Wit, Jan M.; Dittrich, Marcus; Freire, Bruna L.; Bertola, Debora R.; Jorge, Alexander A. L.; Barel, Ortal; Sabir, Ataf H.; Al Tenaiji, Amal M. J.; Taji, Sulaima M.; Al-Sannaa, Nouriya; Al-Abdulwahed, Hind; Digilio, Maria Cristina; Irving, Melita; Anikster, Yair; Bhavani, Gandham S. L.; Girisha, Katta M.; Haaf, Thomas; Taylor, Jenny C.; Dallapiccola, Bruno; Alkuraya, Fowzan S.; Yang, Ruey-Bing; Tartaglia, Marco
Response to Letter to the Editor: IGSF1 Deficiency Results in Human and Murine Somatotrope Neurosecretory Hyperfunction
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
IF5.1
2020-03-240
OAAI
Joustra, Sjoerd D.; Roelfsema, Ferdinand; van Trotsenburg, A. S. Paul; Schneider, Harald J.; Kosilek, Robert P.; Kroon, Herman M.; Logan, John G.; Butterfield, Natalie C.; Zhou, Xiang; Toufaily, Chirine; Bak, Beata; Turgeon, Marc-Olivier; Brule, Emilie; Steyn, Frederik J.; Gurnell, Mark; Koulouri, Olympia; Le Tissier, Paul; Fontanaud, Pierre; Bassett, J. H. Duncan; Williams, Graham R.; Oostdijk, Wilma; Wit, Jan M.; Pereira, Alberto M.; Biermasz, Nienke R.; Bernard, Daniel J.; Schoenmakers, Nadia
IGSF1 Deficiency Results in Human and Murine Somatotrope Neurosecretory Hyperfunction
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
IF5.1
2019-10-2522
OAAI
Joustra, Sjoerd D.; Roelfsema, Ferdinand; van Trotsenburg, A. S. Paul; Schneider, Harald J.; Kosilek, Robert P.; Kroon, Herman M.; Logan, John G.; Butterfield, Natalie C.; Zhou, Xiang; Toufaily, Chirine; Bak, Beata; Turgeon, Marc-Olivier; Brule, Emilie; Steyn, Frederik J.; Gurnell, Mark; Koulouri, Olympia; Le Tissier, Paul; Fontanaud, Pierre; Bassett, J. H. Duncan; Williams, Graham R.; Oostdijk, Wilma; Wit, Jan M.; Pereira, Alberto M.; Biermasz, Nienke R.; Bernard, Daniel J.; Schoenmakers, Nadia

研究方向

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W
Wilma Oostdijk
H 指数:45论文数:219被引数:6,050
M
Monique Losekoot
H 指数:43论文数:195被引数:5,245
M
Marcel Karperien
H 指数:74论文数:492被引数:1.9万
H
Hermine A. van Duyvenvoorde
H 指数:22论文数:67被引数:2,126
M
Martijn J.J. Finken
H 指数:34论文数:163被引数:4,202
A
Alberto M. Pereira
H 指数:82论文数:524被引数:2.2万
A
A S Paul van Trotsenburg
H 指数:42论文数:202被引数:6,698
N
Nienke R. Biermasz
H 指数:72论文数:472被引数:1.7万
S
Sjoerd D. Joustra
H 指数:18论文数:53被引数:892
F
Friedo W. Dekker
H 指数:108论文数:832被引数:4.2万