-
chromosomal breakpoints, as well as gene
sequencing in
suggestive cases,
Kleefstra and
colleagues identified EHMT1 as the
causative gene. This gene is responsible...
-
Romke Kleefstra is a
musician from the Netherlands.
Currently he is a
member of Transtilla,
Piiptsjilling and The
Alvaret Ensemble.
Romke Kleefstra was...
- Staalplaat, with
Peter Broderick, Machinefabriek,
Romke Kleefstra, Anne-Chris Bakker, Jan
Kleefstra)
Wonders (2011,
Erased Tapes, as
Oliveray with Peter...
- disability,
autosomal dominant 13, 40, 48, and 58
Joubert syndrome 1
Kleefstra syndrome 2 Langer-Giedion
syndrome Microphthalmia with
brain and digit...
-
Brunner H,
Chung WK, Kooy RF,
Pfundt R,
Kalscheuer V,
Mehta SG,
Katsanis N,
Kleefstra T (August 2015). "Mutations in DDX3X Are a
Common Cause of Unexplained...
-
syndrome due to SETD5
haploinsufficiency Joubert syndrome 35 KBG
syndrome Kleefstra syndrome 1
Lissencephaly 6 with
microcephaly Macrothrombocytopenia-ly...
- KIF1A-****ociated
neurological disorder KIF1A (2q37.3)
Dominant negative Kleefstra syndrome 9q34 D
Kniest dysplasia COL2A1 1:1,000,000
Kosaki overgrowth...
-
syndrome Trisomy 7 8
Monosomy 8p
Monosomy 8q
Trisomy 8 9 Alfi's
syndrome Kleefstra syndrome Trisomy 9 10
Monosomy 10p
Monosomy 10q
Trisomy 10 11 Jacobsen...
- M.; Bos-Roubos, Anja G.; Vermeulen, Karlijn; Pop-Purceleanu, Monica;
Kleefstra, Tjitske; Egger, Jos I. M. (2020). "Behavior and
cognitive functioning...
- Pfundt, R; Smeitink, J; Poll-The, BT; Engels, H; Strom, TM; Wieczorek, D;
Kleefstra, T; Lüdecke, HJ (2015). "'Splitting
versus lumping': Temple-Baraitser...
