E-LIB Suche - Ergebnisse für: Szczałuba, K.

1

A de novo loss‐of‐function DYNC1H1 mutation in a patient wi..:

Szczałuba, K. ; Szymańska, K. ; Rydzanicz, M....
Clinical Genetics. 93 (2017) 5 - p. 1107-1108 , 2017

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

2

Pontine tegmental cap dysplasia: A hindbrain malformation c..:

Szczałuba, K. ; Szymańska, K. ; Bekiesińska-Figatowska, M....
Neurology. 74 (2010) 22 - p. 1835-1835 , 2010

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

3

Duchenne muscular dystrophy (DMD) in a girl with balanced t..:

Obersztyn, E. ; Szczaluba, K. ; Smyk, M....
European Journal of Paediatric Neurology. 12 (2008) - p. S54-S55 , 2008

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

4

Familial case of paroxysmal nonkinesigenic dyskinesia cause..:

Szczaluba, K. ; Jurek, M. ; Szczepanik, E.
European Journal of Paediatric Neurology. 12 (2008) - p. S50 , 2008

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

5

Duplication of the MECP2 genomic region as a cause of menta..:

Obersztyn, E. ; Nawara, M. ; Smyk, M....
European Journal of Paediatric Neurology. 12 (2008) - p. S46 , 2008

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

6

Clinical characteristics of carriers of a GAG deletion in t..:

Szczaluba, K. ; Jurek, M. ; Milewski, M....
European Journal of Neurology. 14 (2007) 6 - p. 659-662 , 2007

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

7

Genotype-phenotype associations forARXgene duplication in X..:

Szczaluba, K. ; Nawara, M. ; Poirier, K....
Neurology. 67 (2006) 11 - p. 2073-2075 , 2006

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

8

Du Pan syndrome phenotype caused by heterozygous pathogenic..:

Szczaluba, K. ; Hilbert, K. ; Obersztyn, E....
American Journal of Medical Genetics Part A. 138A (2005) 4 - p. 379-383 , 2005

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

9

SUFU haploinsufficiency causes a recognisable neurodevelopm..:

Serpieri, V ; D'Abrusco, F ; Dempsey, J.C...
info:eu-repo/semantics/altIdentifier/doi/10.1136/jmedgenet-2021-108114. , 2022

Link: https://serval.unil.ch/n..

10

Phenotype and genotype of 87 patients with Mowat–Wilson syn..:

Ivanovski I ; Djuric O ; Caraffi S. G...
info:eu-repo/semantics/altIdentifier/pmid/29300384. , 2018

Link: http://hdl.handle.net/24..

11

Phenotype and genotype of 87 patients with Mowat–Wilson syn..:

Ivanovski, I. (Ivan) ; Djuric, O. (Olivera) ; Caraffi, S.G. (Stefano Giuseppe)...
http://repub.eur.nl/pub/114496. , 2018

Link: http://repub.eur.nl/pub/..

12

SUFU haploinsufficiency causes a recognisable neurodevelopm..:

Serpieri, Valentina ; D'Abrusco, Fulvio ; Dempsey, Jennifer C...
Journal of Medical Genetics. 59 (2021) 9 - p. 888-894 , 2021

Link: https://doi.org/10.1136/..

13

Systematic Analysis of Brain MRI Findings in Adaptor Protei..:

Ebrahimi-Fakhari, Darius ; Alecu, Julian E. ; Ziegler, Marvin...
Neurology. 97 (2021) 19 - p. , 2021

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

14

Mutations in SMARCB1 and in other Coffin–Siris syndrome gen..:

Filatova, Alina ; Rey, Linda K. ; Lechler, Marion B....
Nature Communications. 10 (2019) 1 - p. , 2019

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

15

SUFU haploinsufficiency causes a recognisable neurodevelopm..:

Serpieri, Valentina ; D'Abrusco, Fulvio ; Dempsey, Jennifer C...
info:eu-repo/semantics/altIdentifier/doi/10.1136/jmedgenet-2021-108114. , 2022

Link: https://archive-ouverte...