E-LIB Suche - Ergebnisse für: Snyder, Pamela

1

Clinical SMN1 and SMN2 Gene-Specific Sequencing to Enhance ..:

Miller, Cecelia R. ; Fang, Jin ; Snyder, Pamela...
Human Mutation. 2023 (2023) - p. 1-7 , 2023

Link: https://doi.org/10.1155/..

2

Program Evaluation of Fit to Pass®, a Remotely Accessible H..:

Snyder, Pamela ; Carbone, Eva ; Heaton, Karen.
Workplace Health & Safety. 72 (2023) 1 - p. 6-12 , 2023

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

3

P423: SMN1 SMN2 gene-specific sequencing enhances the clini..:

Avenarius, Matthew ; Fang, Jin ; Snyder, Pamela...
Genetics in Medicine Open. 1 (2023) 1 - p. 100470 , 2023

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

4

Complete sequencing of the SMN2 gene in SMA patients detect..:

Ruhno, Corey ; McGovern, Vicki L. ; Avenarius, Matthew R....
Human Genetics. 138 (2019) 3 - p. 241-256 , 2019

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

5

Variable phenotypic expression and onset in MYH14 distal he..:

Iyadurai, Stanley ; Arnold, W. David ; Kissel, John T....
Muscle & Nerve. 56 (2017) 2 - p. 341-345 , 2017

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

6

Congenital lethal motor neuron disease with a novel defect ..:

Butterfield, Russell J. ; Stevenson, Tamara J. ; Xing, Lingyan...
Neurology. 82 (2014) 15 - p. 1322-1330 , 2014

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

7

Suppression of severe achondroplasia with developmental del..:

Manickam, Kandamurugu ; Donoghue, Daniel J. ; Meyer, April N...
American Journal of Medical Genetics Part A. 164 (2013) 1 - p. 243-250 , 2013

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

8

Duplication of the Xq27.3–q28 region, including the FMR1 ge..:

Hickey, Scott E. ; Walters‐Sen, Lauren ; Mosher, Theresa Mihalic...
American Journal of Medical Genetics Part A. 161 (2013) 9 - p. 2294-2299 , 2013

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

9

Newborn and carrier screening for spinal muscular atrophy:

Prior, Thomas W. ; Snyder, Pamela J. ; Rink, Britton D....
American Journal of Medical Genetics Part A. 152A (2010) 7 - p. 1608-1616 , 2010

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

10

Sphingosine Kinase-1 Expression Correlates With Poor Surviv..:

Van Brocklyn, James R ; Jackson, Catherine A ; Pearl, Dennis K...
Journal of Neuropathology and Experimental Neurology. 64 (2005) 8 - p. 695-705 , 2005

Link: https://doi.org/10.1097/..

11

Psychological and Physical Adjustment to Breast Cancer Over..:

Helgeson, Vicki S. ; Snyder, Pamela ; Seltman, Howard
Health Psychology. 23 (2004) 1 - p. 3-15 , 2004

Link: https://doi.org/10.1037/..

12

Abdominal pain (AP) from gastroparesis is indistinguishable..:

Singh, Vinneet ; Nicholas Verne, G. ; Snyder, Pamela.
Gastroenterology. 124 (2003) 4 - p. A632 , 2003

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

13

Sphingosine-1-phosphate stimulates human glioma cell prolif..:

Van Brocklyn, James R ; Letterle, Catherine A ; Snyder, Pamela J.
Cancer Letters. 181 (2002) 2 - p. 195-204 , 2002

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

14

Molecular analysis of spinal muscular atrophy and modificat..:

Mailman, Matthew D. ; Heinz, John W. ; Papp, Audrey C....
Genetics in Medicine. 4 (2002) 1 - p. 20-26 , 2002

Link: https://doi.org/10.1097/..

15

Hybrids monosomal for human chromosome 5 reveal the presenc..:

Mailman, Matthew ; Hemingway, Tamara ; Darsey, Rebecca...
Human Genetics. 108 (2001) 2 - p. 109-115 , 2001

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