Zackai EH - Search Results

1

Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities.

Muir AM, Cohen JL, Sheppard SE, Guttipatti P, Lo TY, Weed N, Doherty D, DeMarzo D, Fagerberg CR, Kjærsgaard L, Larsen MJ, Rump P, Löhner K, Hirsch Y, Zeevi DA, Zackai EH, Bhoj E, Song Y, Mefford HC. Muir AM, et al. Among authors: zackai eh. Am J Hum Genet. 2020 May 7;106(5):623-631. doi: 10.1016/j.ajhg.2020.03.009. Epub 2020 Apr 9. Am J Hum Genet. 2020. PMID: 32275884 Free PMC article.

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

The role of cytologic NOR variants in the etiology of trisomy 21.

Spinner NB, Eunpu DL, Schmickel RD, Zackai EH, McEldrew D, Bunin GR, McDermid H, Emanuel BS. Spinner NB, et al. Among authors: zackai eh. Am J Hum Genet. 1989 May;44(5):631-8. Am J Hum Genet. 1989. PMID: 2523191 Free PMC article. Review.

4

Holt-Oram syndrome associated with the hypoplastic left heart syndrome.

Glauser TA, Zackai E, Weinberg P, Clancy R. Glauser TA, et al. Clin Genet. 1989 Jul;36(1):69-72. doi: 10.1111/j.1399-0004.1989.tb03369.x. Clin Genet. 1989. PMID: 2766565

5

Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome.

Donnenfeld AE, Packer RJ, Zackai EH, Chee CM, Sellinger B, Emanuel BS. Donnenfeld AE, et al. Among authors: zackai eh. Am J Med Genet. 1989 Apr;32(4):461-7. doi: 10.1002/ajmg.1320320405. Am J Med Genet. 1989. PMID: 2773986

6

Gene location in neurofibromatosis.

Stambolian D, Zackai EH. Stambolian D, et al. Among authors: zackai eh. Am J Med Genet. 1988 Apr;29(4):963-5. doi: 10.1002/ajmg.1320290434. Am J Med Genet. 1988. PMID: 3135756 No abstract available.

7

Thrombocytopenia with absent radius in a boy and his uncle.

Schnur RE, Eunpu DL, Zackai EH. Schnur RE, et al. Among authors: zackai eh. Am J Med Genet. 1987 Sep;28(1):117-23. doi: 10.1002/ajmg.1320280117. Am J Med Genet. 1987. PMID: 3314504 Review.

8

Mosaic loss of 15q11q13 in a patient with hypomelanosis of Ito: is there a role for the P gene?

Pellegrino JE, Schnur RE, Kline R, Zackai EH, Spinner NB. Pellegrino JE, et al. Among authors: zackai eh. Hum Genet. 1995 Oct;96(4):485-9. doi: 10.1007/BF00191813. Hum Genet. 1995. PMID: 7557977

9

Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2.

Budarf ML, Konkle BA, Ludlow LB, Michaud D, Li M, Yamashiro DJ, McDonald-McGinn D, Zackai EH, Driscoll DA. Budarf ML, et al. Among authors: zackai eh. Hum Mol Genet. 1995 Apr;4(4):763-6. doi: 10.1093/hmg/4.4.763. Hum Mol Genet. 1995. PMID: 7633430 No abstract available.

10

Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome.

Schell U, Hehr A, Feldman GJ, Robin NH, Zackai EH, de Die-Smulders C, Viskochil DH, Stewart JM, Wolff G, Ohashi H, et al. Schell U, et al. Among authors: zackai eh. Hum Mol Genet. 1995 Mar;4(3):323-8. doi: 10.1093/hmg/4.3.323. Hum Mol Genet. 1995. PMID: 7795583

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