Research output per year
Research output per year
- 13 results
Search results
-
2015
IKBKG mutation with incontinentia pigmenti and ring-enhancing encephalopathy
Eksambe, D., Agim, N., Uddin, N., Gotway, G. & Pascual, J. M., Dec 2015, In: JAMA neurology. 72, 12, p. 1533-1535 3 p.Research output: Contribution to journal › Letter › peer-review
Open Access1 Scopus citations -
2014
Diagnostic yield of clinical next-generation sequencing panels for epilepsy
Wang, J., Gotway, G., Pascual, J. M. & Park, J. Y., May 2014, In: JAMA neurology. 71, 5, p. 650-651 2 p.Research output: Contribution to journal › Letter › peer-review
47 Scopus citations -
2013
Response to Mariani Et al. A second report of PARK2 duplication and developmental delay
Scheuerle, A. E. & Wilson, K. S., Jul 2013, In: American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics. 162, 5, p. 484 1 p.Research output: Contribution to journal › Letter › peer-review
2 Scopus citations -
2010
A physician survey regarding diagnostic variability among birth defects
Langlois, P. H., Sheu, S. U. & Scheuerle, A. E., Jun 2010, In: American Journal of Medical Genetics, Part A. 152, 6, p. 1594-1598 5 p.Research output: Contribution to journal › Letter › peer-review
Open Access13 Scopus citations -
2009
A case of Asian Indian OCA3 patient
Chiang, P. W., Spector, E. & Scheuerle, A., Jul 2009, In: American Journal of Medical Genetics, Part A. 149, 7, p. 1578-1580 3 p.Research output: Contribution to journal › Letter › peer-review
18 Scopus citations -
Response to Charlton et al.
Scheuerle, A., Vannappagari, V. X. & Miller, M. K., Sep 2009, In: Birth Defects Research Part A - Clinical and Molecular Teratology. 85, 9, p. 809-810 2 p.Research output: Contribution to journal › Letter › peer-review
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2008
Teenager with uterine didelphys, absent kidney and 22q11.2 deletion
Scheuerle, A., Mar 15 2008, In: American Journal of Medical Genetics, Part A. 146, 6, p. 800-801 2 p.Research output: Contribution to journal › Letter › peer-review
5 Scopus citations -
2007
Diagnosis, counseling, and gender assignment [1]
Scheuerle, A., Dec 2007, In: Genetics in Medicine. 9, 12, p. 856 1 p.Research output: Contribution to journal › Letter › peer-review
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2002
Sex ratios in infants with congenital anomalies [4]
Waller, D. K., Keddie, A. M., Canfield, M. A. & Scheuerle, A. E., 2002, In: Teratology. 66, 2, p. 60 1 p.Research output: Contribution to journal › Letter › peer-review
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1999
Clarification of a diagnosis of IP [2] (multiple letters)
Roberts, J. L. & Scheuerle, A., 1999, In: American Journal of Medical Genetics. 85, 4, p. 426 1 p.Research output: Contribution to journal › Letter › peer-review
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1996
Heterogeneity of Cerebral Palsy
Scheuerle, A. E., Apr 1996, In: Archives of Pediatrics & Adolescent Medicine. 150, 4, p. 443 1 p.Research output: Contribution to journal › Letter › peer-review
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Macroglossia: More than meets the eye [4]
Scheuerle, A. E., 1996, In: Journal of Pediatrics. 128, 6, p. 865 1 p.Research output: Contribution to journal › Letter › peer-review
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1994
De novo mutation in three families with multigenerational incontinentia pigmenti [1]
Scheuerle, A., Lewis, R. A., Levy, M. L. & Nelson, D. L., 1994, In: American Journal of Human Genetics. 55, 6, p. 1279-1281 3 p.Research output: Contribution to journal › Letter › peer-review
3 Scopus citations