E-LIB Suche - Ergebnisse für: Simensen, 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

Intellectual functioning in alpha‐mannosidosis:

Cathey, Sara S. ; Sarasua, Sara M. ; Simensen, Richard...
JIMD Reports. 50 (2019) 1 - p. 44-49 , 2019

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

3

HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the..:

Friez, Michael J ; Brooks, Susan Sklower ; Stevenson, Roger E...
BMJ Open. 6 (2016) 4 - p. e009537 , 2016

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

4

Longitudinal studies of cognitive and adaptive behavior fun..:

Horowitz, Lucia ; Simensen, Richard ; Pietris, Katie..
Molecular Genetics and Metabolism. 108 (2013) 2 - p. S49 , 2013

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

5

Deletion of the immunoglobulin domain of IL1RAPL1 results i..:

Franek, Karl J. ; Butler, Julia ; Johnson, John...
American Journal of Medical Genetics Part A. 155 (2011) 5 - p. 1109-1114 , 2011

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

6

The course of cognitive‐behavioral development in children ..:

Fisch, Gene S. ; Carpenter, Nancy ; Howard‐Peebles, Patricia N....
American Journal of Medical Genetics Part A. 152A (2010) 6 - p. 1498-1509 , 2010

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

7

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/..

8

Cognitive‐behavioral features of Wolf–Hirschhorn syndrome a..:

Fisch, Gene S. ; Grossfeld, Paul ; Falk, Rena...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 154C (2010) 4 - p. 417-426 , 2010

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

9

Behavior of 10 patients with FG syndrome (Opitz–Kaveggia sy..:

Graham Jr., John M. ; Visootsak, Jeannie ; Dykens, Elisabeth...
American Journal of Medical Genetics Part A. 146A (2008) 23 - p. 3011-3017 , 2008

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

10

Finding new etiologies of mental retardation and hypotonia:..:

Rogers, R Curtis ; Stevenson, Roger E ; Simensen, Richard J..
Developmental Medicine & Child Neurology. 50 (2008) 2 - p. 104-111 , 2008

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

11

Cognitive‐behavioral features of children with Wolf–Hirschh..:

Fisch, Gene S. ; Battaglia, Agatino ; Parrini, Barbara..
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 148C (2008) 4 - p. 252-256 , 2008

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

12

Evidence that SIZN1 is a candidate X‐linked mental retardat..:

Cho, Ginam ; Bhat, Shambhu S. ; Gao, Jinsong...
American Journal of Medical Genetics Part A. 146A (2008) 20 - p. 2644-2650 , 2008

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

13

Craniofacioskeletal syndrome: An X‐linked dominant disorder..:

Stevenson, Roger E. ; Brasington, Cam K. ; Skinner, Cindy...
American Journal of Medical Genetics Part A. 143A (2007) 19 - p. 2321-2329 , 2007

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

14

Altered neurodevelopment associated with mutations of RSK2:..:

Kesler, Shelli R. ; Simensen, Richard J. ; Voeller, Kytja...
Neurogenetics. 8 (2007) 2 - p. 143-147 , 2007

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

15

Pelizaeus‐Merzbacher syndrome: Neurocognitive function in a..:

Marble, Michael ; Voeller, Kytja S. ; May, Melanie M....
American Journal of Medical Genetics Part A. 143A (2007) 13 - p. 1442-1447 , 2007

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