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glazer r[au]
(279 results)?
Functional analysis of novel RUNX2 mutations identified in patients with cleidocranial dysplasia.
Clin Genet. 2019 Nov;96(5):429-438. doi: 10.1111/cge.13610. Epub 2019 Jul 31.
Clin Genet. 2019.
PMID: 31347140
WDR35 variants in a cranioectodermal dysplasia patient with early onset end-stage renal disease and retinal dystrophy.
Walczak-Sztulpa J, Wawrocka A, Sikora W, Pawlak M, Bukowska-Olech E, Kopaczewski B, Urzykowska A, Arts HH, Gotz-Więckowska A, Grenda R, Latos-Bieleńska A, Glazar R.
Walczak-Sztulpa J, et al. Among authors: glazar r.
Am J Med Genet A. 2022 Oct;188(10):3071-3077. doi: 10.1002/ajmg.a.62903. Epub 2022 Jul 25.
Am J Med Genet A. 2022.
PMID: 35875935
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Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction.
Parenti I, Gervasini C, Pozojevic J, Wendt KS, Watrin E, Azzollini J, Braunholz D, Buiting K, Cereda A, Engels H, Garavelli L, Glazar R, Graffmann B, Larizza L, Lüdecke HJ, Mariani M, Masciadri M, Pié J, Ramos FJ, Russo S, Selicorni A, Stefanova M, Strom TM, Werner R, Wierzba J, Zampino G, Gillessen-Kaesbach G, Wieczorek D, Kaiser FJ.
Parenti I, et al. Among authors: glazar r.
Clin Genet. 2016 May;89(5):564-73. doi: 10.1111/cge.12717. Epub 2016 Jan 25.
Clin Genet. 2016.
PMID: 26671848
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Mutations of NANOS1, a human homologue of the Drosophila morphogen, are associated with a lack of germ cells in testes or severe oligo-astheno-teratozoospermia.
Kusz-Zamelczyk K, Sajek M, Spik A, Glazar R, Jędrzejczak P, Latos-Bieleńska A, Kotecki M, Pawelczyk L, Jaruzelska J.
Kusz-Zamelczyk K, et al. Among authors: glazar r.
J Med Genet. 2013 Mar;50(3):187-93. doi: 10.1136/jmedgenet-2012-101230. Epub 2013 Jan 12.
J Med Genet. 2013.
PMID: 23315541
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A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity.
Czarny-Ratajczak M, Lohiniva J, Rogala P, Kozlowski K, Perälä M, Carter L, Spector TD, Kolodziej L, Seppänen U, Glazar R, Królewski J, Latos-Bielenska A, Ala-Kokko L.
Czarny-Ratajczak M, et al. Among authors: glazar r.
Am J Hum Genet. 2001 Nov;69(5):969-80. doi: 10.1086/324023. Epub 2001 Sep 14.
Am J Hum Genet. 2001.
PMID: 11565064
Free PMC article.
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Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion.
Jamsheer A, Zemojtel T, Kolanczyk M, Stricker S, Hecht J, Krawitz P, Doelken SC, Glazar R, Socha M, Mundlos S.
Jamsheer A, et al. Among authors: glazar r.
J Med Genet. 2013 Sep;50(9):579-84. doi: 10.1136/jmedgenet-2013-101659. Epub 2013 May 24.
J Med Genet. 2013.
PMID: 23709756
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Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland.
Wozniak A, Wolnik-Brzozowska D, Wisniewska M, Glazar R, Materna-Kiryluk A, Moszura T, Badura-Stronka M, Skolozdrzy J, Krawczynski MR, Zeyland J, Bobkowski W, Slomski R, Latos-Bielenska A, Siwinska A.
Wozniak A, et al. Among authors: glazar r.
BMC Pediatr. 2010 Dec 6;10:88. doi: 10.1186/1471-2431-10-88.
BMC Pediatr. 2010.
PMID: 21134246
Free PMC article.
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