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Loss-of-function mutations in the immunoglobulin superfamily member 1 gene ( IGSF1 ) cause a novel, X-linked syndrome of central hypothyroidism and testicular enlargement
by
Schoenmakers, N, Dr
,
Sun, Y
,
Bak, B
,
van Trotsenburg, ASP
,
Oostdijk, W
,
Voshol, P
,
Cambridge, E
,
White, JK
,
le Tissier, P
,
Gharavy, SNM
,
Martinez-Barbera, JP
,
Stokvis-Brantsma, WH
,
Vulsma, T
,
Kempers, MJ
,
Persani, L
,
Campi, I
,
Bonomi, M
,
Beck-Peccoz, P
,
Zhu, H
,
Davis, TME
,
Hokken-Koelega, ACS
,
Del Blanco, D Gorbenko
,
Rangasami, JJ
,
Ruivenkamp, CAL
,
Laros, JFJ
,
Kriek, M
,
Kant, SG
,
Bosch, CAJ
,
Biermasz, NR
,
Appelman-Dijkstra, NM
,
Corssmit, EP
,
Hovens, GCJ
,
Pereira, AM
,
den Dunnen, JT
,
Wade, MG
,
Breuning, MH
,
Hennekam, RC
,
Dattani, MT
,
Wit, JM
,
Bernard, DJ
,
Chatterjee, K
Published in
The Lancet (British edition)
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HTAD patient pathway: Strategy for diagnostic work-up of patients and families with (suspected) heritable thoracic aortic diseases (HTAD). A statement from the HTAD working group o...
by
Caruana, Maryanne
,
Baars, Marieke J.
,
Bashiardes, Evy
,
Benke, Kalman
,
Björck, Erik
,
Codreanu, Andrei
,
de Moya Rubio, Elena
,
Dumfarth, Julia
,
Evangelista, Arturo
,
Groenink, Maarten
,
Kallenbach, Klaus
,
Kempers, Marlies
,
Keravnou, Anna
,
Loeys, Bart
,
Muiño-Mosquera, Laura
,
Nagy, Edit
,
Milleron, Olivier
,
Nistri, Stefano
,
Pepe, Guglielmina
,
Roos-Hesselink, Jolien
,
Szabolcs, Zoltan
,
Teixidó-Tura, Gisela
,
Timmermans, Janneke
,
Van de Laar, Ingrid
,
van Kimmenade, Roland
,
Verstraeten, Aline
,
Von Kodolitsch, Yskert
,
De Backer, Julie
,
Jondeau, Guillaume
Published in
European journal of medical genetics
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HIGH COLORECTAL AND LOW ENDOMETRIAL CANCER RISK IN EPCAM DELETION-POSITIVE LYNCH SYNDROME: A COHORT STUDY
by
Kempers, Marlies JE
,
Kuiper, Roland P
,
Ockeloen, Charlotte W
,
Chappuis, Pierre O
,
Hutter, Pierre
,
Rahner, Nils
,
Schackert, Hans K
,
Steinke, Verena
,
Holinski-Feder, Elke
,
Morak, Monika
,
Kloor, Matthias
,
Büttner, Reinhard
,
Verwiel, Eugene TP
,
van Krieken, J. Han
,
Nagtegaal, Iris D
,
Goossens, Monique
,
van der Post, Rachel S.
,
Niessen, Renée C
,
Sijmons, Rolf H
,
Kluijt, Irma
,
Hogervorst, Frans BL
,
Leter, Edward M
,
Gille, Johan JP
,
Aalfs, Cora M
,
Redeker, Egbert JW
,
Hes, Frederik J
,
Tops, Carli MJ
,
van Nesselrooij, Bernadette PM
,
van Gijn, Marielle E
,
García, Encarna B Gómez
,
Eccles, Diana M
,
Bunyan, David J
,
Syngal, Sapna
,
Stoffel, Elena M
,
Culver, Julie O
,
Palomares, Melanie R
,
Graham, Tracy
,
Velsher, Lea
,
Papp, Janos
,
Oláh, Edith
,
Chan, Tsun L
,
Leung, Suet Y
,
van Kessel, Ad Geurts
,
Kiemeney, Lambertus ALM
,
Hoogerbrugge, Nicoline
,
Ligtenberg, Marjolijn JL
Published in
The lancet oncology
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