Borochowitz Z - Search Results

1

Prenatal course of metaphyseal anadysplasia associated with homozygous mutation in MMP9 identified by exome sequencing.

Sharony R, Borochowitz Z, Cohen L, Shtorch-Asor A, Rosenfeld R, Modai S, Reinstein E. Sharony R, et al. Among authors: borochowitz z. Clin Genet. 2017 Dec;92(6):645-648. doi: 10.1111/cge.13020. Epub 2017 Aug 3. Clin Genet. 2017. PMID: 28342220

2

Founder mutation for Huntington disease in Caucasus Jews.

Melamed O, Behar DM, Bram C, Magal N, Pras E, Reznik-Wolf H, Borochowitz ZU, Davidov B, Mor-Cohen R, Baris HN. Melamed O, et al. Among authors: borochowitz zu. Clin Genet. 2015 Feb;87(2):167-72. doi: 10.1111/cge.12344. Epub 2014 Feb 4. Clin Genet. 2015. PMID: 24405192

3

Familial congenital fiber type disproportion (CFTD) with an autosomal recessive inheritance.

Jaffe M, Shapira J, Borochowitz Z. Jaffe M, et al. Among authors: borochowitz z. Clin Genet. 1988 Jan;33(1):33-7. doi: 10.1111/j.1399-0004.1988.tb04261.x. Clin Genet. 1988. PMID: 3342545

4

Familial recurrent dislocation of patella with autosomal dominant mode of inheritance.

Borochowitz Z, Soudry M, Mendes DG. Borochowitz Z, et al. Clin Genet. 1988 Jan;33(1):1-4. doi: 10.1111/j.1399-0004.1988.tb04257.x. Clin Genet. 1988. PMID: 3342544

5

Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: a congenital familial skeletal dysplasia with distinctive features and histopathology.

Borochowitz Z, Langer LO Jr, Gruber HE, Lachman R, Katznelson MB, Rimoin DL. Borochowitz Z, et al. Am J Med Genet. 1993 Feb 1;45(3):320-6. doi: 10.1002/ajmg.1320450308. Am J Med Genet. 1993. PMID: 8434618

6

Familial Caffey's disease and late recurrence in a child.

Borochowitz Z, Gozal D, Misselevitch I, Aunallah J, Boss JH. Borochowitz Z, et al. Clin Genet. 1991 Oct;40(4):329-35. doi: 10.1111/j.1399-0004.1991.tb03104.x. Clin Genet. 1991. PMID: 1756606

7

Early prenatal diagnosis of polycystic pancreas with narrow thorax and short limb dwarfism.

Bronstein M, Reichler A, Borochowitz Z, Bejar J, Drugan A. Bronstein M, et al. Among authors: borochowitz z. Am J Med Genet. 1994 Jan 1;49(1):6-9. doi: 10.1002/ajmg.1320490103. Am J Med Genet. 1994. PMID: 8172252

8

Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.

Huber C, Faqeih EA, Bartholdi D, Bole-Feysot C, Borochowitz Z, Cavalcanti DP, Frigo A, Nitschke P, Roume J, Santos HG, Shalev SA, Superti-Furga A, Delezoide AL, Le Merrer M, Munnich A, Cormier-Daire V. Huber C, et al. Among authors: borochowitz z. Am J Hum Genet. 2013 Jan 10;92(1):144-9. doi: 10.1016/j.ajhg.2012.11.015. Epub 2012 Dec 27. Am J Hum Genet. 2013. PMID: 23273569 Free PMC article.

9

Familial congenital micromelic dysplasia with dislocation of radius and distinct face: a new skeletal dysplasia syndrome.

Borochowitz Z, Barak M, Hershkowitz S. Borochowitz Z, et al. Am J Med Genet. 1991 Apr 1;39(1):91-6. doi: 10.1002/ajmg.1320390120. Am J Med Genet. 1991. PMID: 1867270

10

Autosomal-recessive omodysplasia: prenatal diagnosis and histomorphometric assessment of the physeal plates of the long bones.

Borochowitz Z, Sabo E, Misselevitch I, Boss JH. Borochowitz Z, et al. Am J Med Genet. 1998 Mar 19;76(3):238-44. doi: 10.1002/(sici)1096-8628(19980319)76:3<238::aid-ajmg7>3.0.co;2-m. Am J Med Genet. 1998. PMID: 9508243

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