Publications by authors named "Kirk Aleck"

Claim this Profile
S
Severe early onset obesity and hypopituitarism in a child with a novel SIM1 gene mutation.
Rob Gonsalves, Kirk Aleck, Dorothee Newbern, Gabriel Shaibi, Chirag Kapadia

Endocrinol Diabetes Metab Case Rep· October 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy.
Yu-Ri Lee, Kamal Khan, Kim Armfield-Uhas, Sujata Srikanth, Nicola A Thompson, Kirk A Aleck

Nat Commun· July 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis.
Guo-li Wang, Jing Wang, Ganka Douglas, Marsha Browning, Sihoun Hahn, Kirk Aleck

Mol Genet Metab· August 2011

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long-term outcomes of therapy.
Sarah Michelman Lo, Jun Liu, F Chen, G M Pastores, J Knowles, Kirk Aleck

J Inherit Metab Dis· June 2011

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia.
Christian P Schaaf, Robin P Goin-Kochel, Kerri P Nowell, Jill V Hunter, Kirk A Aleck

Eur J Hum Genet· February 2011

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Population-based Tay-Sachs screening among Ashkenazi Jewish young adults in the 21st century: Hexosaminidase A enzyme assay is essential for accurate testing.
Adele Schneider, Sachiko Nakagawa, Rosanne Keep, Darnelle Dorsainville, Joel Charrow, Kirk Aleck

Am J Med Genet A· November 2009

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients.
Tamar H Taddei, Katherine A Kacena, Mei Yang, Ruhua Yang, Advitya Malhotra, Kirk A Aleck

Am J Hematol· April 2009

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Population differences in the polyalanine domain and 6 new mutations in HLXB9 in patients with Currarino syndrome.
Mercè Garcia-Barceló, Man-Ting So, Danny Ko-Chun Lau, Thomas Yuk-Yu Leon, Zheng-Wei Yuan, Kirk Aleck

Clin Chem· January 2006

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
Further delineation of Kabuki syndrome in 48 well-defined new individuals.
Linlea Armstrong, Azza Abd El Moneim, Kirk Aleck, David J Aughton, Clarisse Baumann

Am J Med Genet A· January 2005

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Craniosynostosis syndromes in the genomic era.
Kirk Aleck

Semin Pediatr Neurol· December 2004

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
CDKN1C mutation in Wiedemann-Beckwith syndrome patients reduces RNA splicing efficiency and identifies a splicing enhancer.
Jocelyne M Lew, Yan Ling Fei, Kirk Aleck, Benjamin J Blencowe, Rosanna Weksberg

Am J Med Genet A· June 2004

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis