Zackai EH - Search Results

1

Genomic sequencing in a cohort of individuals with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome.

Matalon DR, Bhoj EJ, Li D, McDougall C, Schindewolf E, Khalek N, Wilkens A, McManus M, Deardorff MA, Zackai EH. Matalon DR, et al. Among authors: zackai eh. Am J Med Genet A. 2023 Apr;191(4):977-982. doi: 10.1002/ajmg.a.63105. Epub 2023 Jan 6. Am J Med Genet A. 2023. PMID: 36610046

2

Oral-facial-digital syndrome type VI (Váradi syndrome): further clinical delineation.

Münke M, McDonald DM, Cronister A, Stewart JM, Gorlin RJ, Zackai EH. Münke M, et al. Among authors: zackai eh. Am J Med Genet. 1990 Mar;35(3):360-9. doi: 10.1002/ajmg.1320350310. Am J Med Genet. 1990. PMID: 2309783

3

Frontonasal malformation and cloacal exstrophy: a previously unreported association.

Robin NH, Neidich JA, Bason LD, Whitaker LA, McDonald-McGinn D, Hunter J, Snyder HM 3rd, Zackai EH. Robin NH, et al. Among authors: zackai eh. Am J Med Genet. 1996 Jan 2;61(1):75-8. doi: 10.1002/(SICI)1096-8628(19960102)61:1<75::AID-AJMG15>3.0.CO;2-T. Am J Med Genet. 1996. PMID: 8741924

4

Skeletal anomalies and deformities in patients with deletions of 22q11.

Ming JE, McDonald-McGinn DM, Megerian TE, Driscoll DA, Elias ER, Russell BM, Irons M, Emanuel BS, Markowitz RI, Zackai EH. Ming JE, et al. Among authors: zackai eh. Am J Med Genet. 1997 Oct 17;72(2):210-5. doi: 10.1002/(sici)1096-8628(19971017)72:2<210::aid-ajmg16>3.0.co;2-q. Am J Med Genet. 1997. PMID: 9382145

5

Heterotaxia in a fetus with campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys: expanding the phenotype of Cumming syndrome.

Ming JE, McDonald-McGinn DM, Markowitz RI, Ruchelli E, Zackai EH. Ming JE, et al. Among authors: zackai eh. Am J Med Genet. 1997 Dec 31;73(4):419-24. doi: 10.1002/(sici)1096-8628(19971231)73:4<419::aid-ajmg10>3.0.co;2-u. Am J Med Genet. 1997. PMID: 9415469 Review.

6

TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome.

Gripp KW, Stolle CA, Celle L, McDonald-McGinn DM, Whitaker LA, Zackai EH. Gripp KW, et al. Among authors: zackai eh. Am J Med Genet. 1999 Jan 15;82(2):170-6. doi: 10.1002/(sici)1096-8628(19990115)82:2<170::aid-ajmg14>3.0.co;2-x. Am J Med Genet. 1999. PMID: 9934984

7

Omodysplasia: an affected mother and son.

Venditti CP, Farmer J, Russell KL, Friedrich CA, Alter C, Canning D, Whitaker L, Mennuti MT, Driscoll DA, Zackai EH. Venditti CP, et al. Among authors: zackai eh. Am J Med Genet. 2002 Aug 1;111(2):169-77. doi: 10.1002/ajmg.10555. Am J Med Genet. 2002. PMID: 12210345 Review.

8

Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association.

Ming JE, Russell KL, Bason L, McDonald-McGinn DM, Zackai EH. Ming JE, et al. Among authors: zackai eh. Am J Med Genet A. 2003 Dec 15;123A(3):249-52. doi: 10.1002/ajmg.a.20277. Am J Med Genet A. 2003. PMID: 14608645 Review.

9

Independent de novo 22q11.2 deletions in first cousins with DiGeorge/velocardiofacial syndrome.

Saitta SC, Harris SE, McDonald-McGinn DM, Emanuel BS, Tonnesen MK, Zackai EH, Seitz SC, Driscoll DA. Saitta SC, et al. Among authors: zackai eh. Am J Med Genet A. 2004 Jan 30;124A(3):313-7. doi: 10.1002/ajmg.a.20421. Am J Med Genet A. 2004. PMID: 14708107 Free PMC article.

10

Ganglioglioma in a Sotos syndrome patient with an NSD1 deletion.

Deardorff MA, Maisenbacher M, Zackai EH. Deardorff MA, et al. Among authors: zackai eh. Am J Med Genet A. 2004 Nov 1;130A(4):393-4. doi: 10.1002/ajmg.a.30032. Am J Med Genet A. 2004. PMID: 15455365

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