E-LIB Suche - Ergebnisse für: IMGSAC

1

Maternally inherited genetic variants of CADPS2 are present..:

Bonora, Elena ; Graziano, Claudio ; Minopoli, Fiorella...
EMBO Molecular Medicine. 6 (2014) 6 - p. 795-809 , 2014

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

2

Homozygous microdeletion of exon 5 in ZNF277 in a girl with..:

IMGSAC ; Ceroni, Fabiola ; Simpson, Nuala H...
European Journal of Human Genetics. 22 (2014) 10 - p. 1165-1171 , 2014

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

3

Maternally inherited genetic variants of CADPS2 are present..:

Bonora, Elena ; Graziano, Claudio ; Minopoli, Fiorella...
EMBO Molecular Medicine. 6 (2014) 12 - p. 1639-1639 , 2014

Link: https://doi.org/10.15252..

4

Chromosome 22q11 deletions are not found in autistic patien..:

Ogilvie, Caroline Mackie ; Moore, Janette ; Daker, Michael...
American Journal of Medical Genetics. 96 (2000) 1 - p. 15-17 , 2000

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

5

Maternally inherited genetic variants of CADPS2 are present..:

BONORA, ELENA ; GRAZIANO, CLAUDIO ; MINOPOLI, FIORELLA...
info:eu-repo/semantics/altIdentifier/pmid/24737869. , 2014

Link: http://hdl.handle.net/11..

6

Homozygous microdeletion of exon 5 in ZNF277 in a girl with..:

Ceroni, Fabiola ; Simpson, Nuala H ; Francks, Clyde...
EJHG : European journal of human genetics : the official journal of the European Society of Human Genetics.. , 2014

Link: http://hdl.handle.net/21..

7

Maternally inherited genetic variants of CADPS2 are present..:

Elena Bonora ; Claudio Graziano ; Fiorella Minopoli...
https://doi.org/10.15252/emmm.201404829. , 2014

Link: https://doi.org/10.15252..

8

Maternally inherited genetic variants of CADPS2 are present..:

Elena Bonora ; Claudio Graziano ; Fiorella Minopoli...
https://doi.org/10.1002/emmm.201303235. , 2014

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

9

Early Developmental Regression in Autism Spectrum Disorder:..:

The International Molecular Genetic Study of Autism Consortium (IMGSAC) ; Parr, Jeremy R. ; Le Couteur, Ann...
Journal of Autism and Developmental Disorders. 41 (2010) 3 - p. 332-340 , 2010

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

10

Polymorphisms in leucine-rich repeat genes are associated w..:

Sousa, Inês ; Clark, Taane G ; Holt, Richard...
Molecular Autism. 1 (2010) 1 - p. , 2010

Link: https://doi.org/10.1186/..

11

Mapping of partially overlapping de novo deletions across a..:

Newbury, Dianne F. ; Warburton, Pamela C. ; Wilson, Natalie...
American Journal of Medical Genetics Part A. 149A (2009) 4 - p. 588-597 , 2009

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

12

Analysis of X chromosome inactivation in autism spectrum di..:

Gong, Xiaohong ; Bacchelli, Elena ; Blasi, Francesca...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 147B (2008) 6 - p. 830-835 , 2008

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

13

Absence of coding mutations in the X‐linked genes neuroligi..:

Blasi, Francesca ; Bacchelli, Elena ; Pesaresi, Giulia...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 141B (2006) 3 - p. 220-221 , 2006

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

14

Polymorphisms in leucine-rich repeat genes are associated w..:

Sousa, Inês ; Clark, Taane G ; Holt, Richard...
http://www.molecularautism.com/content/1/1/7. , 2010

Link: http://www.molecularauti..

15

Copy number variation and association analysis of SHANK3 as..:

Sykes, N.H ; Toma, C ; Wilson, N...
https://westminsterresearch.westminster.ac.uk/download/2212d9b00b51f224e50bd1988bdc837d0e2dbcd39a6a22b5754bcf7778038926/631330/ejhg200947.pdf. , 2009

Link: https://westminsterresea..