E-LIB Suche - Ergebnisse für: Schroer, Richard

1

Autistic Disorder: A 20 Year Chronicle:

Skinner, Cindy ; Pauly, Rini ; Skinner, Steven A....
Journal of Autism and Developmental Disorders. 51 (2020) 2 - p. 677-684 , 2020

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

2

Alpha-L-iduronidase pseudodeficiency: a case series:

Cagle, Stephanie ; Schroer, Richard ; Pollard, Laura..
Molecular Genetics and Metabolism. 111 (2014) 2 - p. S29 , 2014

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

3

Clinical utility of the X‐chromosome array:

Zarate, Yuri A. ; Dwivedi, Alka ; Bartel, Frank O....
American Journal of Medical Genetics Part A. 161 (2012) 1 - p. 120-130 , 2012

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

4

Duplication of OCRL and adjacent genes associated with auti..:

Schroer, Richard J. ; Beaudet, Arthur L. ; Shinawi, Marwan...
American Journal of Medical Genetics Part A. 158A (2012) 10 - p. 2602-2605 , 2012

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

5

Deletions in chromosome 6p22.3-p24.3, including ATXN1, are ..:

Celestino-Soper, Patrícia BS ; Skinner, Cindy ; Schroer, Richard...
Molecular Cytogenetics. 5 (2012) 1 - p. , 2012

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

6

A common X-linked inborn error of carnitine biosynthesis ma..:

Celestino-Soper, Patrícia B. S. ; Violante, Sara ; Crawford, Emily L....
Proceedings of the National Academy of Sciences. 109 (2012) 21 - p. 7974-7981 , 2012

Link: https://doi.org/10.1073/..

7

Two patients with hepatic mtDNA depletion syndromes and mar..:

Mudd, S. Harvey ; Wagner, Conrad ; Luka, Zigmund...
Molecular Genetics and Metabolism. 105 (2012) 2 - p. 228-236 , 2012

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

8

A common X-linked inborn error of carnitine biosynthesis ma..:

Celestino-Soper, Patrícia B. S. ; Violante, Sara ; Crawford, Emily L....
Proceedings of the National Academy of Sciences of the United States of America. 109 (2012) 21 - p. 7974-7981 , 2012

Link: https://www.jstor.org/st..

9

Natural history of Christianson syndrome:

Schroer, Richard J. ; Holden, Kenton R. ; Tarpey, Patrick S....
American Journal of Medical Genetics Part A. 152A (2010) 11 - p. 2775-2783 , 2010

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

10

Diagnosis, Treatment, and Long-Term Outcomes of Late-Onset ..:

Pollard, Laura M. ; Williams, Nolan R. ; Espinoza, Lesby...
Journal of Child Neurology. 25 (2009) 8 - p. 954-960 , 2009

Link: https://doi.org/10.1177/..

11

Neurexin 1α structural variants associated with autism:

Yan, Jin ; Noltner, Katie ; Feng, Jinong...
Neuroscience Letters. 438 (2008) 3 - p. 368-370 , 2008

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

12

A recurrent 15q13.3 microdeletion syndrome associated with ..:

Sharp, Andrew J ; Mefford, Heather C ; Li, Kelly...
Nature Genetics. 40 (2008) 3 - p. 322-328 , 2008

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

13

Expanded newborn screening identifies maternal primary carn..:

Schimmenti, Lisa A. ; Crombez, Eric A. ; Schwahn, Bernd C....
Molecular Genetics and Metabolism. 90 (2007) 4 - p. 441-445 , 2007

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

14

High frequency of neurexin 1β signal peptide structural var..:

Feng, Jinong ; Schroer, Richard ; Yan, Jin...
Neuroscience Letters. 409 (2006) 1 - p. 10-13 , 2006

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

15

Array‐based comparative genomic hybridization analysis of r..:

Sahoo, Trilochan ; Shaw, Chad A. ; Young, Andrew S....
American Journal of Medical Genetics Part A. 139A (2005) 2 - p. 106-113 , 2005

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