Suchergebnisse - "Moraine, C"

PubPharm (134)

1

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females

enthalten in: Molecular psychiatry | 2018

von Palmer, E. | Stuhlmann, T. | Weinert, S. | +47

2

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females

enthalten in: Molecular psychiatry | 2016

von Palmer, E. | Stuhlmann, T. | Weinert, S. | +46

3

Twenty-five novel mutations including duplications in the ATP7A gene

enthalten in: Clinical genetics | 2011

von Moizard, M. | Ronce, N. | Blesson, S. | +12

4

Twenty‐five novel mutations including duplications in the ATP7A gene

enthalten in: Clinical genetics | 2011

von Moizard, M. | Ronce, N. | Blesson, S. | +12

5

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism

enthalten in: Molecular psychiatry | 2010

von Laumonnier, F. | Shoubridge, C. | Antar, C. | +13

6

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism

enthalten in: Molecular psychiatry | 2010

von Laumonnier, F. | Shoubridge, C. | Antar, C. | +13

7

Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH

enthalten in: Journal of medical genetics | 2006

von Lugtenberg, D. | de Brouwer, A. | Kleefstra, T. | +13

ErratumIn: J Med Genet. 2008 Dec;45(12):832

8

Screening of ARX in mental retardation families : Consequences for the strategy of molecular diagnosis

enthalten in: Neurogenetics | 2006

von Poirier, K. | Lacombe, D. | Gilbert-Dussardier, B. | +9

9

Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia

enthalten in: Neurology | 2005

von Zanni, G. | Saillour, Y. | Nagara, M. | +11

CommentIn: Neurology. 2005 Nov 8;65(9):1346-7. - PMID 16275817

10

Screening of ARX in mental retardation families: consequences for the strategy of molecular diagnosis

enthalten in: Neurogenetics | 2005

von Poirier, K. | Lacombe, D. | Gilbert-Dussardier, B. | +9

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