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Issue Date
Title
Author(s)
2018
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency
Jansen, S.
;
Hoischen, A.
;
Coe, B.
;
Carvill, G.
;
van Esch, H.
;
Bosch, D.
;
Andersen, U.
;
Baker, C.
;
Bauters, M.
;
Bernier, R.
;
van Bon, B.
;
Claahsen-van der Grinten, H.
;
Gecz, J.
;
Gilissen, C.
;
Grillo, L.
;
Hackett, A.
;
Kleefstra, T.
;
Koolen, D.
;
Kvarnung, M.
;
Larsen, M.
;
et al.
Discover
Author
1
Andersen, U.
1
Baker, C.
1
Bosch, D.
1
Claahsen-van der Grinten, H.
1
et al.
1
Hackett, A.
1
Hoischen, A.
1
Jansen, S.
1
Koolen, D.
1
Kvarnung, M.
.
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Subject
1
Male
1
Overweight
1
Reproducibility of Results
1
Sequence Analysis, DNA
1
Syndrome
.
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