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Phenotypic spectrum associated with SPECC1L pathogenic vari..:
Bhoj, Elizabeth J.
;
Haye, Damien
;
Toutain, Annick
...
European Journal of Medical Genetics. 62 (2019) 12 - p. 103588 , 2019
Link:
https://doi.org/10.1016/j.ejmg.2018.11.022
RT Journal T1
Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.ejmg.2018.11.022&Exemplar=1&LAN=DE A1 Bhoj, Elizabeth J. A1 Haye, Damien A1 Toutain, Annick A1 Bonneau, Dominique A1 Nielsen, Irene Kibæk A1 Lund, Ida Bay A1 Bogaard, Pauline A1 Leenskjold, Stine A1 Karaer, Kadri A1 Wild, Katherine T. A1 Grand, Katheryn L. A1 Astiazaran, Mirena C. A1 Gonzalez-Nieto, Luis A. A1 Carvalho, Ana A1 Lehalle, Daphné A1 Amudhavalli, Shivarajan M. A1 Repnikova, Elena A1 Saunders, Carol A1 Thiffault, Isabelle A1 Saadi, Irfan A1 Li, Dong A1 Hakonarson, Hakon A1 Vial, Yoann A1 Zackai, Elaine A1 Callier, Patrick A1 Drunat, Séverine A1 Verloes, Alain PB Elsevier BV YR 2019 SN 1769-7212 JF European Journal of Medical Genetics VO 62 IS 12 SP 103588 LK http://dx.doi.org/https://doi.org/10.1016/j.ejmg.2018.11.022 DO https://doi.org/10.1016/j.ejmg.2018.11.022 SF ELIB - SuUB Bremen
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