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Frontiers in genetics, 2021-07, Vol.12, p.621683-621683
2021
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Frontiers in genetics, 2021-09, Vol.12, p.693952-693952
2021
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Fertility and sterility, 2015-04, Vol.103 (4), p.1021-1030.e1
2015
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Journal of medical genetics, 2013-03, Vol.50 (3), p.174-186
- Gordon, Christopher T
- Vuillot, Alice
- Marlin, Sandrine
- Gerkes, Erica
- Henderson, Alex
- AlKindy, Adila
- Holder-Espinasse, Muriel
- Park, Sarah S
- Omarjee, Asma
- Sanchis-Borja, Mateo
- Bdira, Eya Ben
- Oufadem, Myriam
- Sikkema-Raddatz, Birgit
- Stewart, Alison
- Palmer, Rodger
- McGowan, Ruth
- Petit, Florence
- Delobel, Bruno
- Speicher, Michael R
- Aurora, Paul
- Kilner, David
- Pellerin, Philippe
- Simon, Marie
- Bonnefont, Jean-Paul
- Tobias, Edward S
- García-Miñaúr, Sixto
- Bitner-Glindzicz, Maria
- Lindholm, Pernille
- Meijer, Brigitte A
- Abadie, Véronique
- Denoyelle, Françoise
- Vazquez, Marie-Paule
- Rotky-Fast, Christa
- Couloigner, Vincent
- Pierrot, Sébastien
- Manach, Yves
- Breton, Sylvain
- Hendriks, Yvonne M C
- Munnich, Arnold
- Jakobsen, Linda
- Kroisel, Peter
- Lin, Angela
- Kaban, Leonard B
- Basel-Vanagaite, Lina
- Wilson, Louise
- Cunningham, Michael L
- Lyonnet, Stanislas
- Amiel, Jeanne
2013
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Movement disorders clinical practice (Hoboken, N.J.), 2020-02, Vol.7 (2), p.218-222
2020
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Human mutation, 2020-12, Vol.41 (12), p.2021-2027
2020
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Clinical dysmorphology, 2024-01, Vol.33 (1), p.38
2024
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Genetics in medicine, 2020-03, Vol.22 (3), p.598-609
- Williamson, Kathleen A.
- Hall, H. Nikki
- Owen, Liusaidh J.
- Livesey, Benjamin J.
- Hanson, Isabel M.
- Adams, G.
- Bodek, Simon
- Calvas, Patrick
- Castle, Bruce
- Clarke, Michael
- Deng, Alexander T.
- Edery, Patrick
- Fisher, Richard
- Gillessen-Kaesbach, Gabriele
- Heon, Elise
- Hurst, Jane
- Josifova, Dragana
- Lorenz, Birgit
- McKee, Shane
- Meire, Francoise
- Moore, Anthony T.
- Parker, Michael
- Reiff, Charlotte M.
- Self, Jay
- Tobias, Edward S.
- Verheij, Joke B.
- Willems, Marjolaine
- Williams, Denise
- van Heyningen, Veronica
- Marsh, Joseph A.
- FitzPatrick, David R.
2020
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Endocrine, 2024-05, Vol.84 (2), p.345-349
2024
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Genetics in medicine, 2021-07, Vol.23 (7), p.1356-1365
- Nisselle, Amy
- Janinski, Monika
- Martyn, Melissa
- McClaren, Belinda
- Kaunein, Nadia
- Maguire, Jane
- Riggs, Erin Rooney
- Barlow-Stewart, Kristine
- Belcher, Andrea
- Bernat, John A.
- Best, Stephanie
- Bishop, Michelle
- Carroll, June C.
- Cornel, Martina
- Dissanayake, Vajira H.W.
- Dodds, Agnes
- Dunlop, Kate
- Garg, Gunjan
- Gear, Russell
- Graves, Debra
- Knight, Ken
- Korf, Bruce
- Kumar, Dhavendra
- Laurino, Mercy
- Ma, Alan
- Mallett, Andrew
- McCarthy, Maria
- McEwen, Alison
- Mulder, Nicola
- Patel, Chirag
- Quinlan, Catherine
- Reed, Kate
- Sinnerbrink, Ingrid
- Slavotinek, Anne
- Suppiah, Vijayaprakash
- Terrill, Bronwyn
- Tobias, Edward S.
- Tonkin, Emma
- Trumble, Steve
- Wessels, Tina-Marie
- Metcalfe, Sylvia
- Jordan, Helen
- Gaff, Clara
2021
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BMC geriatrics, 2011-02, Vol.11 (1), p.8-8, Article 8
2011
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European journal of medical genetics, 2019-01, Vol.62 (1), p.27-34
2019
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The journal of clinical endocrinology and metabolism, 2011-12, Vol.96 (12), p.E2009-E2013
2011
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American journal of medical genetics. Part A, 2015-03, Vol.167A (3), p.461-475
- Terhal, Paulien A.
- Nievelstein, Rutger Jan A. J.
- Verver, Eva J. J.
- Topsakal, Vedat
- van Dommelen, Paula
- Hoornaert, Kristien
- Le Merrer, Martine
- Zankl, Andreas
- Simon, Marleen E. H.
- Smithson, Sarah F.
- Marcelis, Carlo
- Kerr, Bronwyn
- Clayton-Smith, Jill
- Kinning, Esther
- Mansour, Sahar
- Elmslie, Frances
- Goodwin, Linda
- van der Hout, Annemarie H.
- Veenstra-Knol, Hermine E.
- Herkert, Johanna C.
- Lund, Allan M.
- Hennekam, Raoul C. M.
- Mégarbané, André
- Lees, Melissa M.
- Wilson, Louise C.
- Male, Alison
- Hurst, Jane
- Alanay, Yasemin
- Annerén, Göran
- Betz, Regina C.
- Bongers, Ernie M. H. F.
- Cormier-Daire, Valerie
- Dieux, Anne
- David, Albert
- Elting, Mariet W.
- van den Ende, Jenneke
- Green, Andrew
- van Hagen, Johanna M.
- Hertel, Niels Thomas
- Holder-Espinasse, Muriel
- den Hollander, Nicolette
- Homfray, Tessa
- Hove, Hanne D.
- Price, Susan
- Raas-Rothschild, Annick
- Rohrbach, Marianne
- Schroeter, Barbara
- Suri, Mohnish
- Thompson, Elizabeth M.
- Tobias, Edward S.
- Toutain, Annick
- Vreeburg, Maaike
- Wakeling, Emma
- Knoers, Nine V.
- Coucke, Paul
- Mortier, Geert R.
2015
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Clinical dysmorphology, 2019-07, Vol.28 (3), p.114
2019
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Sexual development, 2016-01, Vol.10 (3), p.130-135
2016
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Applied & translational genomics, 2015-09, Vol.6, p.15-17
2015
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American journal of medical genetics. Part C, Seminars in medical genetics, 2012-08, Vol.160C (3), p.205-216
- Terhal, Paulien A.
- van Dommelen, Paula
- Le Merrer, Martine
- Zankl, Andreas
- Simon, Marleen E.H.
- Smithson, Sarah F.
- Marcelis, Carlo
- Kerr, Bronwyn
- Kinning, Esther
- Mansour, Sahar
- Hennekam, Raoul C.M.
- van der Hout, Annemarie H.
- Cormier-Daire, Valerie
- Lund, Allan M.
- Goodwin, Linda
- Mégarbané, André
- Lees, Melissa
- Betz, Regina C.
- Tobias, Edward S.
- Coucke, Paul
- Mortier, Geert R.
2012
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Delayed diagnosis of adrenal hypoplasia congenita in a patient with a new mutation in the NR0B1 gene
2012
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Endocrine development, 2014, Vol.27, p.53
2014
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Canadian journal of ophthalmology, 2012-12, Vol.47 (6), p.e41-e42
2012
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American journal of medical genetics. Part A, 2007-01, Vol.143A (2), p.161-167
2007
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The journal of clinical endocrinology and metabolism, 2003-09, Vol.88 (9), p.4251-4257
2003
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Genes chromosomes & cancer, 2007-03, Vol.46 (3), p.277-287
2007
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Nature genetics, 2001-12, Vol.29 (4), p.380-381
2001
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