E-LIB Suche - Ergebnisse für: Hoogeboom, A. Jeannette M.

1

Disruption of TUFT1, a Desmosome-Associated Protein, Causes..:

Verkerk, Annemieke J.M.H. ; Andrei, Daniela ; Vermeer, Mathilde C.S.C....
Journal of Investigative Dermatology. 144 (2024) 2 - p. 284-295.e16 , 2024

Link: https://doi.org/10.1016/..

2

PREPL deficiency: delineation of the phenotype and developm..:

Régal, Luc ; Mårtensson, Emma ; Maystadt, Isabelle...
Genetics in Medicine. 20 (2018) 1 - p. 109-118 , 2018

Link: https://doi.org/10.1038/..

3

Mutated zinc finger protein of the cerebellum 1 leads to mi..:

Vandervore, Laura V. ; Schot, Rachel ; Hoogeboom, A. Jeannette M....
European Journal of Medical Genetics. 61 (2018) 12 - p. 783-789 , 2018

Link: https://doi.org/10.1016/..

4

CXorf56, a dendritic neuronal protein, identified as a new ..:

Verkerk, Annemieke J. M. H. ; Zeidler, Shimriet ; Breedveld, Guido...
European Journal of Human Genetics. 26 (2018) 4 - p. 552-560 , 2018

Link: https://doi.org/10.1038/..

5

Correction: Human mutations in integrator complex subunits ..:

Oegema, Renske ; Baillat, David ; Schot, Rachel...
PLOS Genetics. 13 (2017) 8 - p. e1006923 , 2017

Link: https://doi.org/10.1371/..

6

Identification of causative variants in TXNL4A in Burn-McKe..:

Goos, Jacqueline A C ; Swagemakers, Sigrid M A ; Twigg, Stephen R F...
European Journal of Human Genetics. 25 (2017) 10 - p. 1126-1133 , 2017

Link: https://doi.org/10.1038/..

7

Intrafamilial variability of the triphalangeal thumb phenot..:

Baas, Martijn ; Potuijt, Jacob W.P. ; Hovius, Steven E.R....
American Journal of Medical Genetics Part A. 173 (2017) 11 - p. 2898-2905 , 2017

Link: https://doi.org/10.1002/..

8

Preaxial polydactyly of the foot: Clinical and genetic impl..:

Burger, Elise B ; Baas, Martijn ; Hovius, Steven E R..
Acta Orthopaedica. 89 (2017) 1 - p. 113-118 , 2017

Link: https://doi.org/10.1080/..

9

Human mutations in integrator complex subunits link transcr..:

Oegema, Renske ; Baillat, David ; Schot, Rachel...
PLOS Genetics. 13 (2017) 5 - p. e1006809 , 2017

Link: https://doi.org/10.1371/..

10

PREPL deficiency: delineation of the phenotype and developm..:

Regal, Luc ; Martensson, Emma ; Maystadt, Isabelle...
Neurology. 88 (2017) 16_supplement - p. , 2017

Link: https://doi.org/10.1212/..

11

Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked ..:

Kalscheuer, Vera M. ; James, Victoria M. ; Himelright, Miranda L....
Frontiers in Molecular Neuroscience. 8 (2016) - p. , 2016

Link: https://doi.org/10.3389/..

12

Phenotype and genotype in 103 patients with tricho-rhino-ph..:

Maas, Saskia M. ; Shaw, Adam C. ; Bikker, Hennie...
European Journal of Medical Genetics. 58 (2015) 5 - p. 279-292 , 2015

Link: https://doi.org/10.1016/..

13

Phenotypic variation in epidermolytic ichthyosis: clinical ..:

Nellen, Ruud G. L. ; Nagtzaam, Ivo F. ; Hoogeboom, A. Jeannette M....
Experimental Dermatology. 24 (2015) 11 - p. 883-885 , 2015

Link: https://doi.org/10.1111/..

14

Gain-of-Function Mutations in ZIC1 Are Associated with Coro..:

Twigg, Stephen R.F. ; Forecki, Jennifer ; Goos, Jacqueline A.C....
The American Journal of Human Genetics. 97 (2015) 3 - p. 378-388 , 2015

Link: https://doi.org/10.1016/..

15

Genetic basis of alpha‐aminoadipic and alpha‐ketoadipic aci..:

Hagen, Jacob ; te Brinke, Heleen ; Wanders, Ronald J. A....
Journal of Inherited Metabolic Disease. 38 (2015) 5 - p. 873-879 , 2015

Link: https://doi.org/10.1007/..