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Year Number of Results
2001 1
2003 1
2007 1
2008 1
2009 3
2010 2
2011 2
2012 2
2013 1
2024 0

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13 results

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Page 1
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.
Simeonov DR, Wang X, Wang C, Sergeev Y, Dolinska M, Bower M, Fischer R, Winer D, Dubrovsky G, Balog JZ, Huizing M, Hart R, Zein WM, Gahl WA, Brooks BP, Adams DR. Simeonov DR, et al. Among authors: balog jz. Hum Mutat. 2013 Jun;34(6):827-35. doi: 10.1002/humu.22315. Epub 2013 Apr 30. Hum Mutat. 2013. PMID: 23504663 Free PMC article. Review.
The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1.
Liberfarb RM, Levy HP, Rose PS, Wilkin DJ, Davis J, Balog JZ, Griffith AJ, Szymko-Bennett YM, Johnston JJ, Francomano CA, Tsilou E, Rubin BI. Liberfarb RM, et al. Among authors: balog jz. Genet Med. 2003 Jan-Feb;5(1):21-7. doi: 10.1097/00125817-200301000-00004. Genet Med. 2003. PMID: 12544472 Free article. Review.
Auditory dysfunction in Stickler syndrome.
Szymko-Bennett YM, Mastroianni MA, Shotland LI, Davis J, Ondrey FG, Balog JZ, Rudy SF, McCullagh L, Levy HP, Liberfarb RM, Francomano CA, Griffith AJ. Szymko-Bennett YM, et al. Among authors: balog jz. Arch Otolaryngol Head Neck Surg. 2001 Sep;127(9):1061-8. doi: 10.1001/archotol.127.9.1061. Arch Otolaryngol Head Neck Surg. 2001. PMID: 11556853
Craniofacial and dental findings in cystinosis.
Bassim CW, Gautam P, Domingo DL, Balog JZ, Guadagnini JP, Gahl WA, Hart TC. Bassim CW, et al. Among authors: balog jz. Oral Dis. 2010 Jul;16(5):488-95. doi: 10.1111/j.1601-0825.2010.01662.x. Epub 2010 Mar 9. Oral Dis. 2010. PMID: 20233313 Free PMC article.
Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog.
Solomon BD, Bear KA, Wyllie A, Keaton AA, Dubourg C, David V, Mercier S, Odent S, Hehr U, Paulussen A, Clegg NJ, Delgado MR, Bale SJ, Lacbawan F, Ardinger HH, Aylsworth AS, Bhengu NL, Braddock S, Brookhyser K, Burton B, Gaspar H, Grix A, Horovitz D, Kanetzke E, Kayserili H, Lev D, Nikkel SM, Norton M, Roberts R, Saal H, Schaefer GB, Schneider A, Smith EK, Sowry E, Spence MA, Shalev SA, Steiner CE, Thompson EM, Winder TL, Balog JZ, Hadley DW, Zhou N, Pineda-Alvarez DE, Roessler E, Muenke M. Solomon BD, et al. Among authors: balog jz. J Med Genet. 2012 Jul;49(7):473-9. doi: 10.1136/jmedgenet-2012-101008. J Med Genet. 2012. PMID: 22791840
Latent class subtyping of attention-deficit/hyperactivity disorder and comorbid conditions.
Acosta MT, Castellanos FX, Bolton KL, Balog JZ, Eagen P, Nee L, Jones J, Palacio L, Sarampote C, Russell HF, Berg K, Arcos-Burgos M, Muenke M. Acosta MT, et al. Among authors: balog jz. J Am Acad Child Adolesc Psychiatry. 2008 Jul;47(7):797-807. doi: 10.1097/CHI.0b013e318173f70b. J Am Acad Child Adolesc Psychiatry. 2008. PMID: 18520958 Free PMC article.
A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum.
Pineda-Alvarez DE, Solomon BD, Roessler E, Balog JZ, Hadley DW, Zein WM, Hadsall CK, Brooks BP, Muenke M. Pineda-Alvarez DE, et al. Among authors: balog jz. Am J Med Genet A. 2011 Nov;155A(11):2713-20. doi: 10.1002/ajmg.a.34261. Epub 2011 Oct 4. Am J Med Genet A. 2011. PMID: 21976454 Free PMC article.
Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.
Lacbawan F, Solomon BD, Roessler E, El-Jaick K, Domené S, Vélez JI, Zhou N, Hadley D, Balog JZ, Long R, Fryer A, Smith W, Omar S, McLean SD, Clarkson K, Lichty A, Clegg NJ, Delgado MR, Levey E, Stashinko E, Potocki L, Vanallen MI, Clayton-Smith J, Donnai D, Bianchi DW, Juliusson PB, Njølstad PR, Brunner HG, Carey JC, Hehr U, Müsebeck J, Wieacker PF, Postra A, Hennekam RC, van den Boogaard MJ, van Haeringen A, Paulussen A, Herbergs J, Schrander-Stumpel CT, Janecke AR, Chitayat D, Hahn J, McDonald-McGinn DM, Zackai EH, Dobyns WB, Muenke M. Lacbawan F, et al. Among authors: balog jz. J Med Genet. 2009 Jun;46(6):389-98. doi: 10.1136/jmg.2008.063818. Epub 2009 Apr 2. J Med Genet. 2009. PMID: 19346217 Free PMC article.
13 results