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Alternative polyadenylation alters protein dosage by switching between intronic and 3'UTR sites.
Sci Adv. 2023 Feb 17;9(7):eade4814. doi: 10.1126/sciadv.ade4814. Epub 2023 Feb 17.
Sci Adv. 2023.
PMID: 36800428
Free PMC article.
Molecular characterization and reclassification of a 1.18 Mbp DMD duplication following positive carrier screening for Duchenne/Becker muscular dystrophy.
Zepeda-Mendoza CJ, Bontrager JE, Fisher CF, McDonald A, George-Abraham JK, Hasadsri L.
Zepeda-Mendoza CJ, et al. Among authors: george abraham jk.
Clin Case Rep. 2022 Jul 11;10(7):e6008. doi: 10.1002/ccr3.6008. eCollection 2022 Jul.
Clin Case Rep. 2022.
PMID: 35846917
Free PMC article.
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A case of prolidase deficiency in a male patient.
Haller CN, George-Abraham JK, Peterson RG, Diaz LZ.
Haller CN, et al. Among authors: george abraham jk.
Pediatr Dermatol. 2022 Jan;39(1):94-98. doi: 10.1111/pde.14890. Epub 2021 Dec 9.
Pediatr Dermatol. 2022.
PMID: 34888915
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De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome.
Cappuccio G, Sayou C, Tanno PL, Tisserant E, Bruel AL, Kennani SE, Sá J, Low KJ, Dias C, Havlovicová M, Hančárová M, Eichler EE, Devillard F, Moutton S, Van-Gils J, Dubourg C, Odent S, Gerard B, Piton A, Yamamoto T, Okamoto N, Firth H, Metcalfe K, Moh A, Chapman KA, Aref-Eshghi E, Kerkhof J, Torella A, Nigro V, Perrin L, Piard J, Le Guyader G, Jouan T, Thauvin-Robinet C, Duffourd Y, George-Abraham JK, Buchanan CA, Williams D, Kini U, Wilson K; Telethon Undiagnosed Diseases Program; Sousa SB, Hennekam RCM, Sadikovic B, Thevenon J, Govin J, Vitobello A, Brunetti-Pierri N.
Cappuccio G, et al. Among authors: george abraham jk.
Genet Med. 2020 Nov;22(11):1838-1850. doi: 10.1038/s41436-020-0898-y. Epub 2020 Jul 22.
Genet Med. 2020.
PMID: 32694869
Free article.
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Tetrasomy 15q25.2→qter identified with SNP microarray in a patient with multiple anomalies including complex cardiovascular malformation.
George-Abraham JK, Zimmerman SL, Hinton RB, Marino BS, Witte DP, Hopkin RJ.
George-Abraham JK, et al.
Am J Med Genet A. 2012 Aug;158A(8):1971-6. doi: 10.1002/ajmg.a.35428. Epub 2012 Jun 18.
Am J Med Genet A. 2012.
PMID: 22711292
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Fractures in children with neurofibromatosis type 1 from two NF clinics.
George-Abraham JK, Martin LJ, Kalkwarf HJ, Rieley MB, Stevenson DA, Viskochil DH, Hopkin RJ, Stevens AM, Hanson H, Schorry EK.
George-Abraham JK, et al.
Am J Med Genet A. 2013 May;161A(5):921-6. doi: 10.1002/ajmg.a.35541. Epub 2013 Mar 25.
Am J Med Genet A. 2013.
PMID: 23529831
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Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.
Koczkowska M, Chen Y, Callens T, Gomes A, Sharp A, Johnson S, Hsiao MC, Chen Z, Balasubramanian M, Barnett CP, Becker TA, Ben-Shachar S, Bertola DR, Blakeley JO, Burkitt-Wright EMM, Callaway A, Crenshaw M, Cunha KS, Cunningham M, D'Agostino MD, Dahan K, De Luca A, Destrée A, Dhamija R, Eoli M, Evans DGR, Galvin-Parton P, George-Abraham JK, Gripp KW, Guevara-Campos J, Hanchard NA, Hernández-Chico C, Immken L, Janssens S, Jones KJ, Keena BA, Kochhar A, Liebelt J, Martir-Negron A, Mahoney MJ, Maystadt I, McDougall C, McEntagart M, Mendelsohn N, Miller DT, Mortier G, Morton J, Pappas J, Plotkin SR, Pond D, Rosenbaum K, Rubin K, Russell L, Rutledge LS, Saletti V, Schonberg R, Schreiber A, Seidel M, Siqveland E, Stockton DW, Trevisson E, Ullrich NJ, Upadhyaya M, van Minkelen R, Verhelst H, Wallace MR, Yap YS, Zackai E, Zonana J, Zurcher V, Claes K, Martin Y, Korf BR, Legius E, Messiaen LM.
Koczkowska M, et al. Among authors: george abraham jk.
Am J Hum Genet. 2018 Jan 4;102(1):69-87. doi: 10.1016/j.ajhg.2017.12.001. Epub 2017 Dec 28.
Am J Hum Genet. 2018.
PMID: 29290338
Free PMC article.
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Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite.
Dharmadhikari AV, Gambin T, Szafranski P, Cao W, Probst FJ, Jin W, Fang P, Gogolewski K, Gambin A, George-Abraham JK, Golla S, Boidein F, Duban-Bedu B, Delobel B, Andrieux J, Becker K, Holinski-Feder E, Cheung SW, Stankiewicz P.
Dharmadhikari AV, et al. Among authors: george abraham jk.
BMC Med Genet. 2014 Dec 4;15:128. doi: 10.1186/s12881-014-0128-z.
BMC Med Genet. 2014.
PMID: 25472632
Free PMC article.
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