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American Journal of Medical Genetics|October 16, 1996
Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q 11.2M Li, E H Zackai, N Niikawa, et al.
American Journal of Medical Genetics. Part A|April 9, 2009
Aortic root dilation in patients with 22q11.2 deletion syndromeAnitha S John, Donna M McDonald-McGinn, Elaine H Zackai, et al.
Clinical Dysmorphology|October 18, 2003
Craniosynostosis with tracheal sleeve: a patient with Pfeiffer syndrome, tracheal sleeve and additional malformations in whom an FGFR2 mutation was foundElaine H Zackai, Donna M McDonald-McGinn, Catherine Stolle, et al.
The Journal of Craniofacial Surgery|March 27, 2012
Revision of "A 223-kb de novo deletion of PAX9 in a patient with oligodontia"Chad R Haldeman-Englert, Alisha Biser, Elaine H Zackai, et al.
American Journal of Human Genetics|October 1, 1994
Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patientsS D Cheng, N B Spinner, E H Zackai, et al.
Advances in Pediatrics|August 2, 2001
The 22q11.2 deletion syndromeB S Emanuel, D McDonald-McGinn, S C Saitta, et al.
The Journal of Craniofacial Surgery|May 21, 2010
A 223-kb de novo deletion of PAX9 in a patient with oligodontiaChad R Haldeman-Englert, Alisha Biser, Elaine H Zackai, et al.
Clinical Genetics|May 1, 1988
X-linked recessive aqueductal stenosis without macrocephalyR I Kelley, M T Mennuti, W F Hickey, et al.
The Journal of Pediatrics|November 20, 2001
Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)A F Jawad, D M McDonald-Mcginn, E Zackai, et al.
Cortex; a Journal Devoted to the Study of the Nervous System and Behavior|February 18, 2005
Visuospatial and numerical cognitive deficits in children with chromosome 22q11.2 deletion syndromeTony J Simon, Carrie E Bearden, Donna McDonald Mc-Ginn, et al.
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