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Showing results for martin kosinska
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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. Hum Mutat. 2014 Oct;35(10):1171-4. doi: 10.1002/humu.22620. Epub 2014 Aug 7. Hum Mutat. 2014. PMID: 25044830
RAB40AL has been reported as the locus for Martin-Probst syndrome (MPS), an X-linked deafness-intellectual disability syndrome. ...
RAB40AL has been reported as the locus for Martin-Probst syndrome (MPS), an X-linked deafness-intellectual disability syndrome. ...
Variants in the pancreatic CUB and zona pellucida-like domains 1 (CUZD1) gene in early-onset chronic pancreatitis - A possible new susceptibility gene.
Rygiel AM, Unger LS, Sörgel FL, Masson E, Matsumoto R, Ewers M, Chen JM, Bugert P, Buscail L, Gambin T, Oracz G, Winiewska-Szajewska M, Mianowska A, Poznanski J, Kosińska J, Stawinski P, Płoski R, Koziel D, Gluszek S, Laumen H, Lindgren F, Löhr JM, Orekhova A, Rebours V, Rosendahl J, Párniczky A, Hegyi P, Sasaki A, Kataoka F, Tanaka Y, Hamada S, Sahin-Tóth M, Hegyi E, Férec C, Masamune A, Witt H. Rygiel AM, et al. Pancreatology. 2022 Jun;22(5):564-571. doi: 10.1016/j.pan.2022.04.015. Epub 2022 May 1. Pancreatology. 2022. PMID: 35589511 Free PMC article.
Loss of function TRPV6 variants are associated with chronic pancreatitis in nonalcoholic early-onset Polish and German patients.
Oracz G, Zaród M, Ewers M, Laumen H, Gambin T, Kamiński P, Grabowska I, Drożak A, Kwiatkowski S, Wertheim-Tysarowska K, Kołodziejczyk E, Domaszewicz A, Dorożko B, Kosińska J, Głuszek S, Kozieł D, Płoski R, Rosendahl J, Witt H, Drożak J, Rygiel AM. Oracz G, et al. Pancreatology. 2021 Dec;21(8):1434-1442. doi: 10.1016/j.pan.2021.09.005. Epub 2021 Sep 10. Pancreatology. 2021. PMID: 34538581
Asymmetric diffusion through synthetic nanopores.
Siwy Z, Kosińska ID, Fuliński A, Martin CR. Siwy Z, et al. Phys Rev Lett. 2005 Feb 4;94(4):048102. doi: 10.1103/PhysRevLett.94.048102. Epub 2005 Feb 3. Phys Rev Lett. 2005. PMID: 15783605