Kosińska J - Search Results

1

Kosińska J, Zaleski T. Kosińska J, et al. Otolaryngol Pol. 1991;45(2):128-32. Otolaryngol Pol. 1991. PMID: 2067856 Polish.

2

Late subjective audiometric verifications of the early auditory brainstem responses results in young hard-of-hearing children before their speech development.

Kochanek K, Kosińska J, Zaleski T. Kochanek K, et al. Among authors: kosinska j. Otolaryngol Pol. 1993;47(1):76-9. Otolaryngol Pol. 1993. PMID: 8316361

3

[An unusual complication of intensive cobalt therapy].

Moszyński B, Sujkowska U, Kosińska J. Moszyński B, et al. Among authors: kosinska j. Otolaryngol Pol. 1987;41(6):431-4. Otolaryngol Pol. 1987. PMID: 3451158 Polish. No abstract available.

4

Isolated Hearing Impairment Caused by SPATA5 Mutations in a Family with Variable Phenotypic Expression.

Szczałuba K, Szymańska K, Kosińska J, Pollak A, Murcia V, Kędra A, Stawiński P, Rydzanicz M, Demkow U, Płoski R. Szczałuba K, et al. Among authors: kosinska j. Adv Exp Med Biol. 2017;980:59-66. doi: 10.1007/5584_2016_206. Adv Exp Med Biol. 2017. PMID: 28293831

5

Evidence against RAB40AL being the locus for Martin-Probst X-linked deafness-intellectual disability syndrome.

Ołdak M, Ścieżyńska A, Młynarski W, Borowiec M, Ruszkowska E, Szulborski K, Pollak A, Kosińska J, Mueller-Malesińska M, Stawiński P, Szaflik JP, Płoski R. Ołdak M, et al. Among authors: kosinska j. Hum Mutat. 2014 Oct;35(10):1171-4. doi: 10.1002/humu.22620. Epub 2014 Aug 7. Hum Mutat. 2014. PMID: 25044830

6

Further evidence for GRIN2B mutation as the cause of severe epileptic encephalopathy.

Smigiel R, Kostrzewa G, Kosinska J, Pollak A, Stawinski P, Szmida E, Bloch M, Szymanska K, Karpinski P, Sasiadek MM, Ploski R. Smigiel R, et al. Among authors: kosinska j. Am J Med Genet A. 2016 Dec;170(12):3265-3270. doi: 10.1002/ajmg.a.37887. Epub 2016 Sep 8. Am J Med Genet A. 2016. PMID: 27605359

7

Novel GNB1 de novo mutation in a patient with neurodevelopmental disorder and cutaneous mastocytosis: Clinical report and literature review.

Szczałuba K, Biernacka A, Szymańska K, Gasperowicz P, Kosińska J, Rydzanicz M, Płoski R. Szczałuba K, et al. Among authors: kosinska j. Eur J Med Genet. 2018 Mar;61(3):157-160. doi: 10.1016/j.ejmg.2017.11.010. Epub 2017 Nov 23. Eur J Med Genet. 2018. PMID: 29174093 Review.

8

Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss.

Pollak A, Lechowicz U, Murcia Pieńkowski VA, Stawiński P, Kosińska J, Skarżyński H, Ołdak M, Płoski R. Pollak A, et al. Among authors: kosinska j. BMC Med Genet. 2017 Dec 2;18(1):142. doi: 10.1186/s12881-017-0499-z. BMC Med Genet. 2017. PMID: 29197352 Free PMC article.

9

Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression.

Rydzanicz M, Wachowska M, Cook EC, Lisowski P, Kuźniewska B, Szymańska K, Diecke S, Prigione A, Szczałuba K, Szybińska A, Koppolu A, Murcia Pienkowski V, Kosińska J, Wiweger M, Kostrzewa G, Brzozowska M, Domańska-Pakieła D, Jurkiewicz E, Stawiński P, Gromadka A, Zielenkiewicz P, Demkow U, Dziembowska M, Kuźnicki J, Creamer TP, Płoski R. Rydzanicz M, et al. Among authors: kosinska j. Eur J Hum Genet. 2019 Jan;27(1):61-69. doi: 10.1038/s41431-018-0254-8. Epub 2018 Sep 25. Eur J Hum Genet. 2019. PMID: 30254215 Free PMC article.

10

AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant.

Szczałuba K, Mierzewska H, Śmigiel R, Kosińska J, Koppolu A, Biernacka A, Stawiński P, Pollak A, Rydzanicz M, Płoski R. Szczałuba K, et al. Among authors: kosinska j. J Appl Genet. 2020 May;61(2):213-218. doi: 10.1007/s13353-020-00552-w. Epub 2020 Mar 12. J Appl Genet. 2020. PMID: 32166732 Free PMC article.

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