Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

658 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome.
Stewart DR, Huang A, Faravelli F, Anderlid BM, Medne L, Ciprero K, Kaur M, Rossi E, Tenconi R, Nordenskjöld M, Gripp KW, Nicholson L, Meschino WS, Capua E, Quarrell OW, Flint J, Irons M, Giampietro PF, Schowalter DB, Zaleski CA, Malacarne M, Zackai EH, Spinner NB, Krantz ID. Stewart DR, et al. Among authors: zackai eh. Am J Med Genet A. 2004 Aug 1;128A(4):340-51. doi: 10.1002/ajmg.a.30136. Am J Med Genet A. 2004. PMID: 15264279
Autoimmune disorders in Kabuki syndrome.
Ming JE, Russell KL, McDonald-McGinn DM, Zackai EH. Ming JE, et al. Among authors: zackai eh. Am J Med Genet A. 2005 Jan 30;132A(3):260-2. doi: 10.1002/ajmg.a.30332. Am J Med Genet A. 2005. PMID: 15523604
Symptomatic Chiari I malformation in Kabuki syndrome.
Ciprero KL, Clayton-Smith J, Donnai D, Zimmerman RA, Zackai EH, Ming JE. Ciprero KL, et al. Among authors: zackai eh. Am J Med Genet A. 2005 Jan 30;132A(3):273-5. doi: 10.1002/ajmg.a.30387. Am J Med Genet A. 2005. PMID: 15523623
The 22q11.2 deletion in African-American patients: an underdiagnosed population?
McDonald-McGinn DM, Minugh-Purvis N, Kirschner RE, Jawad A, Tonnesen MK, Catanzaro JR, Goldmuntz E, Driscoll D, Larossa D, Emanuel BS, Zackai EH. McDonald-McGinn DM, et al. Among authors: zackai eh. Am J Med Genet A. 2005 Apr 30;134(3):242-6. doi: 10.1002/ajmg.a.30069. Am J Med Genet A. 2005. PMID: 15754359 Free PMC article.
Immune abnormalities are a frequent manifestation of Kabuki syndrome.
Hoffman JD, Ciprero KL, Sullivan KE, Kaplan PB, McDonald-McGinn DM, Zackai EH, Ming JE. Hoffman JD, et al. Among authors: zackai eh. Am J Med Genet A. 2005 Jun 15;135(3):278-81. doi: 10.1002/ajmg.a.30722. Am J Med Genet A. 2005. PMID: 15887282 Review.
HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.
Gripp KW, Lin AE, Stabley DL, Nicholson L, Scott CI Jr, Doyle D, Aoki Y, Matsubara Y, Zackai EH, Lapunzina P, Gonzalez-Meneses A, Holbrook J, Agresta CA, Gonzalez IL, Sol-Church K. Gripp KW, et al. Among authors: zackai eh. Am J Med Genet A. 2006 Jan 1;140(1):1-7. doi: 10.1002/ajmg.a.31047. Am J Med Genet A. 2006. PMID: 16329078
658 results