European journal of human genetics

Journal Abbreviation: EUR J HUM GENET
ISSN: 1018-4813
Publisher: Nature Publishing Group: Open Access Hybrid Model Option B



Publications

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Journal issue: 5, Volume: 27, Pages range: 747-759
Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures (2019)
Zweier M, Begemann A, Mcwalter K, et al.

Journal issue: 3, Volume: 27, Pages range: 408-421
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study (2019)
Papuc SM, Abela L, Steindl K, et al.

Journal issue: 2, Volume: 26, Pages range: 197-209
Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling (2018)
Asadollahi R, Strauss JE, Zenker M, et al.

Journal issue: 8, Volume: 26, Pages range: 1113-1120
Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature (2018)
Montalbano A, Juergensen L, Fukami M, et al.


Exome Pool-Seq in neurodevelopmental disorders (2017)
Popp B, Ekici AB, Thiel C, et al.

Journal issue: 7, Volume: 25, Pages range: 889-893
Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID (2017)
Redler S, Strom TM, Wieland T, et al.

Journal issue: 4, Volume: 24, Pages range: 556-61
Loss-of-function variants in HIVEP2 are a cause of intellectual disability (2016)
Srivastava S, Engels H, Schanze I, et al.


Last updated on 2014-11-12 at 06:54