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Non-invasive prenatal testing: ethical issues explored
by
de Jong, Antina
,
Dondorp, Wybo J
,
de Die-Smulders, Christine E M
,
Frints, Suzanne G M
,
de Wert, Guido M W R
Published in
European journal of human genetics : EJHG
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Osteopathia striata with cranial sclerosis owing to WTX gene defect
by
Perdu, Bram
,
Freitas, Fenna de
,
Frints, Suzanne GM
,
Schouten, Meyke
,
Schrander‐Stumpel, Connie
,
Barbosa, Mafalda
,
Pinto‐Basto, Jorge
,
Reis‐Lima, Margarida
,
Vernejoul, Marie‐Christine de
,
Becker, Kristin
,
Freckmann, Marie‐Louise
,
Keymolen, Kathlijn
,
Haan, Eric
,
Savarirayan, Ravi
,
Koenig, Rainer
,
Zabel, Bernhard
,
Vanhoenacker, Filip M
,
Hul, Wim Van
Published in
Journal of bone and mineral research
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Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium
by
de Brouwer, Arjan P.M.
,
Yntema, Helger G.
,
Kleefstra, Tjitske
,
Lugtenberg, Dorien
,
Oudakker, Astrid R.
,
de Vries, Bert B.A.
,
van Bokhoven, Hans
,
Van Esch, Hilde
,
Frints, Suzanne G.M.
,
Froyen, Guy
,
Fryns, Jean-Pierre
,
Raynaud, Martine
,
Moizard, Marie-Pierre
,
Ronce, Nathalie
,
Bensalem, Anissa
,
Moraine, Claude
,
Poirier, Karine
,
Castelnau, Laetitia
,
Saillour, Yoann
,
Bienvenu, Thierry
,
Beldjord, Chérif
,
des Portes, Vincent
,
Chelly, Jamel
,
Turner, Gillian
,
Fullston, Tod
,
Gecz, Jozef
,
Kuss, Andreas W.
,
Tzschach, Andreas
,
Jensen, Lars Riff
,
Lenzner, Steffen
,
Kalscheuer, Vera M.
,
Ropers, Hans-Hilger
,
Hamel, Ben C.J.
Published in
Human mutation
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MECP2 gene mutations in non-syndromic X-linked mental retardation: Phenotype-genotype correlation
by
Gomot, Marie
,
Gendrot, Chantal
,
Verloes, Alain
,
Raynaud, Martine
,
David, Albert
,
Yntema, Helger G.
,
Dessay, Sabine
,
Kalscheuer, Vera
,
Frints, Suzanne
,
Couvert, Philippe
,
Briault, Sylvain
,
Blesson, Sophie
,
Toutain, Annick
,
Chelly, Jamel
,
Desportes, Vincent
,
Moraine, Claude
Published in
American journal of medical genetics. Part A
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ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation
by
Bienvenu, Thierry
,
Poirier, Karine
,
Friocourt, Gaelle
,
Bahi, Nadia
,
Beaumont, Delphine
,
Fauchereau, Fabien
,
Ben Jeema, Lamia
,
Zemni, Ramzi
,
Vinet, Marie-Claude
,
Francis, Fiona
,
Couvert, Philippe
,
Gomot, Marie
,
Moraine, Claude
,
van Bokhoven, Hans
,
Kalscheuer, Vera
,
Frints, Suzanne
,
Gecz, Josef
,
Ohzaki, Kanae
,
Chaabouni, Habiba
,
Fryns, Jean-Pierre
,
Desportes, Vincent
,
Beldjord, Cherif
,
Chelly, Jamel
Published in
Human molecular genetics
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Tetralogy of Fallot with coronary artery to pulmonary artery fistula: Tetralogy of Fallot - coronary to artery fistula
by
Witters, Ingrid
,
De Groot, Renee
,
Van Loo, Kristien
,
Willekens, Christine
,
Coumans, Audrey
,
Frints, Suzanne
,
Frijns, Jean-Pierre
,
Baldewijns, Marcella
Published in
Prenatal diagnosis
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Tetralogy of Fallot with coronary artery to pulmonary artery fistula
by
Witters, Ingrid
,
De Groot, Renee
,
Van Loo, Kristien
,
Willekens, Christine
,
Coumans, Audrey
,
Frints, Suzanne
,
Frijns, Jean-Pierre
,
Baldewijns, Marcella
Published in
Prenatal diagnosis
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Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene
by
Veugelers, M
,
Cat, B D
,
Muyldermans, S Y
,
Reekmans, G
,
Delande, N
,
Frints, S
,
Legius, E
,
Fryns, J P
,
Schrander-Stumpel, C
,
Weidle, B
,
Magdalena, N
,
David, G
Published in
Human molecular genetics
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Mutational analysis of the GPC3/GPC4glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene
by
Veugelers, Mark
,
De Cat, Bart
,
Sin Ya Muyldermans
,
Reekmans, Gunter
,
Delande, Nathalie
,
Frints, Suzanne
,
Legius, Eric
,
Fryns, Jean-Pierre
,
Schrander-Stumpel, Connie
,
Weidle, Bernhard
,
Neiva Magdalena
,
Guido, David
Published in
Human molecular genetics
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Tetralogy of Fallot with coronary artery to pulmonary artery fistula
by
Witters, Ingrid
,
De Groot, Renee
,
Van Loo, Kristien
,
Willekens, Christine
,
Coumans, Audrey
,
Frints, Suzanne
,
Frijns, Jean-Pierre
,
Baldewijns, Marcella
Published in
Prenatal diagnosis
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MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse
by
Wesdorp, Mieke
,
Murillo-Cuesta, Silvia
,
Peters, Theo
,
Celaya, Adelaida M.
,
Oonk, Anne
,
Schraders, Margit
,
Oostrik, Jaap
,
Gomez-Rosas, Elena
,
Beynon, Andy J.
,
Hartel, Bas P.
,
Okkersen, Kees
,
Koenen, Hans J.P.M.
,
Weeda, Jack
,
Lelieveld, Stefan
,
Voermans, Nicol C.
,
Joosten, Irma
,
Hoyng, Carel B.
,
Lichtner, Peter
,
Kunst, Henricus P.M.
,
Feenstra, Ilse
,
de Bruijn, Suzanne E.
,
van Dooren, M.F.
,
de Gier, H.H.W.
,
Hoefsloot, E.H.
,
van der Schroeff, M.P.
,
Kant, S.G.
,
Rotteveel, L.J.C.
,
Frints, S.G.M.
,
Hof, J.R.
,
Stokroos, R.J.
,
Vanhoutte, E.K.
,
Admiraal, R.J.C.
,
Feenstra, I.
,
Kremer, H.
,
Kunst, H.P.M.
,
Pennings, R.J.E.
,
Yntema, H.G.
,
van Essen, A.J.
,
Free, R.H.
,
Klein-Wassink, J.S.
,
Admiraal, Ronald J.C.
,
Yntema, Helger G.
,
van Wijk, Erwin
,
del Castillo, Ignacio
,
Serra, Pau
,
Varela-Nieto, Isabel
,
Pennings, Ronald J.E.
,
Kremer, Hannie
Published in
American journal of human genetics
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