Items where Author is " Kalmár Tibor"

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Number of items: 26.

Tombácz Dóra, Maróti Zoltán, Kalmár Tibor, Palkovits Miklós, Snyder Michael, Boldogkői Zsolt: Whole-exome sequencing data of suicide victims who had suffered from major depressive disorder.
SCIENTIFIC DATA, 6. Azonosító: 190010-Terjedelem: 10. ISSN 2052-4463 (2019)

Zombor Melinda, Kalmár Tibor, Maróti Zoltán, Zimmermann Aliz, Máté Adrienn, Bereczki Csaba, Sztriha László: Co-occurrence of mutations in FOXP1 and PTCH1 in a girl with extreme megalencephaly, callosal dysgenesis and profound intellectual disability.
JOURNAL OF HUMAN GENETICS, 63 (11). pp. 1189-1193. ISSN 1434-5161 (2018)

Szabó Tamás, Orosz Petronella Éva, Balogh Eszter, Jávorszky Eszter, Máttyus István, Bereczki Csaba, Maróti Zoltán, Kalmár Tibor, Szabó Attila, Reusz György, Várkonyi Ildikó, Marián Erzsébet, Gombos Éva, Orosz Orsolya, Madar László, Balla György, Kappelmayer János, Tory Kálmán, Balogh István: Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies.
PEDIATRIC NEPHROLOGY, 33 (10). pp. 1713-1721. ISSN 0931-041X (2018)

Iványi Béla, Rácz Gábor Zoltán, Gál Péter, Brinyiczki Kitti, Bódi István, Kalmár Tibor, Maróti Zoltán, Bereczki Csaba: Diffuse mesangial sclerosis in a PDSS2 mutation-induced coenzyme Q10 deficiency.
PEDIATRIC NEPHROLOGY, 33 (3). pp. 439-446. ISSN 0931-041X (2018)

Neparáczki Endre, Maróti Zoltán, Kalmár Tibor, Kocsy Klaudia, Maár Kitti, Bihari Péter, Nagy István, Fóthi Erzsébet, Pap Ildikó, Kustár Ágnes, Pálfi György, Raskó István, Zink Albert, Török Tibor: Mitogenomic data indicate admixture components of Central-Inner Asian and Srubnaya origin in the conquering Hungarians.
PLOS ONE, 13 (10). Azonosító: e0205920-Terjedelem: 24. ISSN 1932-6203 (2018)

Goda Vera, Malik Anikó, Kalmár Tibor, Maróti Zoltán, Patel Bhumika, Ujházi Boglárka, Csomós Krisztián, Hale Jaime E., Chen Karin, Bleesin Jacob, Palma Paolo, Cancrini Caterina, Comeau Anne M., Krivan Gergely, Walter Jolan E.: Partial RAG deficiency in a patient with varicella infection, autoimmune cytopenia, and anticytokine antibodies.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY: IN PRACTICE, 6 (5). pp. 1769-1771. ISSN 2213-2198 (2018)

Tombácz Dóra, Maróti Zoltán, Kalmár Tibor, Csabai Zsolt, Balázs Zsolt, Takahashi Shinichi, Palkovits Miklós, Snyder Michael, Boldogkői Zsolt: High-coverage whole-exome sequencing identifies candidate genes for suicide in victims with major depressive disorder.
SCIENTIFIC REPORTS, 7 (1). p. 7106. ISSN 2045-2322 (2017)

Szpisjak László, Németh Viola Luca, Szépfalusi Noémi, Zádori Dénes, Maróti Zoltán, Kalmár Tibor, Vécsei László, Klivényi Péter: Neurocognitive characterization of an SCA28 family caused by a novel AFG3L2 gene mutation.
CEREBELLUM, 16. pp. 979-985. ISSN 1473-4222 (2017)

Neparáczki Endre, Kocsy Klaudia, Tóth Gábor Endre, Maróti Zoltán, Kalmár Tibor, Bihari Péter, Nagy István, Pálfi György, Molnár Erika, Raskó István, Török Tibor: Revising mtDNA haplotypes of the ancient Hungarian conquerors with next generation sequencing.
PLOS ONE, 12 (4). Azonosító: e0174886-Terjedelem: 11 p.. ISSN 1932-6203 (2017)

Kalmár Tibor, Maróti Zoltán, Rózsa Melinda, Baráth Ákos, Monostori Péter, Nagy Dóra, Bede Olga, Karg Eszter: Cystás fibrosis újszülöttkori szűrése.
MUCOVISCIDOSIS HUNGARICA, 2 (1). pp. 21-29. ISSN 2416-0695 (2016)

Kovács Gábor, Kalmár Tibor, Endreffy Emőke, Ondrik Zoltán, Iványi Béla, Rikker Csaba, Haszon Ibolya, Túri Sándor, Sinkó Mária, Bereczki Csaba, Maróti Zoltán: Efficient Targeted Next Generation Sequencing-Based Workflow for Differential Diagnosis of Alport-Related Disorders.
PLOS ONE, 11 (3). Terjedelem: 14 p.-Azonosító: e0149241. ISSN 1932-6203 (2016)

Surányi Andrea, Maróti Zoltán, Tálosi Gyula, Kalmár Tibor, Kaiser László, Bereczki Csaba, Pál Attila, Keresztúri Attila: Novel frameshift mutation in the CHD7 gene associated with CHARGE syndrome with preaxial polydactyly.
CLINICAL DYSMORPHOLOGY, 25 (3). pp. 98-100. ISSN 0962-8827 (2016)

Molnár Imre Árpád, Migh Ede, Szikora Szilárd, Kalmár Tibor, Végh Attila Gergely, Deák Ferenc, Barkó Szilvia, Bugyi Beáta, Orfanos Zacharias, Kovács János, Juhász Gábor, Váró György, Nyitrai Miklós, Sparrow John, Mihály József: DAAM Is Required for Thin Filament Formation and Sarcomerogenesis during Muscle Development in Drosophila.
PLoS Genetics, 10 (2). Terjedelem: 15 p.-Azonosító: e1004166. ISSN 1553-7404 (2014)

Prokop Andreas, Sánchez-Soriano Natalia, Gonçalves-Pimentel Catarina, Molnár Imre, Kalmár Tibor, Mihály József: DAAM family members leading a novel path into formin research.
Communicative & integrative biology, 4 (5). pp. 538-42. ISSN 1942-0889 (2011)

Kalmár Tibor, Lim Chea, Hayward Penelope, Muñoz-Descalzo Silvia, Nichols Jennifer, Garcia-Ojalvo Jordi, Martinez Arias Alfonso: Regulated Fluctuations in Nanog Expression Mediate Cell Fate Decisions in Embryonic Stem Cells.
PLoS Biology, 7 (7). Terjedelem: 16 p.-Azonosító: e1000149. ISSN 1545-7885 (2009)

Hayward Penelope, Kalmár Tibor, Martinez Arias Alfonso: Wnt/Notch signalling and information processing during development.
Development, 135 (3). pp. 411-424. ISSN 0950-1991 (2008)

Tömöry Gyöngyvér, Csányi Bernadett, Bogácsi-Szabó Erika, Kalmár Tibor, Czibula Ágnes, Csősz Aranka, Priskin Katalin, Mende Balázs Gusztáv, Langó Péter, Downes C. Stephen, Raskó István: Comparison of maternal lineage and biogeographic analyses of ancient and modern Hungarian populations.
American Journal of Physical Anthropology, 134 (3). pp. 354-368. ISSN 0002-9483 (2007)

Bogácsi-Szabó Erika, Kalmár Tibor, Csányi Bernadett, Tömöry Gyöngyvér, Czibula Ágnes, Priskin Katalin, Horváth Ferenc, Downes Christopher Stephen, Raskó István: Mitochondrial DNA of ancient Cumanians: culturally Asian steppe nomadic immigrants with substantially more western Eurasian mitochondrial DNA lineages.
Human biology, 77 (5). pp. 639-662. ISSN 0018-7143 (2005)

Soares Miguel L., Haraguchi Seiki, Torres-Padilla Maria-Elena, Kalmár Tibor, Carpenter Lee, Bell Graham, Morrison Alastair, Ring Christopher JA, Clarke Neil J., Glover David M., Zernicka-Goetz Magdalena: Functional studies of signaling pathways in peri-implantation development of the mouse embryo by RNAi.
BMC Developmental Biology, 5 (1). Terjedelem: 11 p.-Azonosító: 28. ISSN 1471-213X (2005)

Gervain Judit, Czibula Ágnes, Simon Judit, Kalmár Tibor: Krónikus C-hepatitises betegekből izolált hepatitis C-vírus lb protein kináz kötő régiójának szerkezeti analízise és ennek összefüggése az interferon kezelés eredményességével.
Orvosi hetilap, 144 (24). pp. 1179-1184. ISSN 0030-6002 (2003)

Góth László, Shemirani Amir, Kalmár Tibor: A Novel Catalase Mutation (a GA Insertion) Causes the Hungarian Type of Acatalasemia.
Blood Cells, Molecules, and Diseases, 26 (2). pp. 151-154. ISSN 10799796 (2000)

Góth László, Gorzsás András, Kalmár Tibor: A simple PCR-heteroduplex screening method for detection of a common mutation of the catalase gene in Hungary.
CLINICAL CHEMISTRY, 46 (8). pp. 1199-1200. ISSN 0009-9147 (2000)

Kalmár Tibor, Bachrati Csanád, Marcsik Antónia, Raskó István: A simple and efficient method for PCR amplifiable DNA extraction from ancient bones.
Nucleic Acids Research, 28 (12). Terjedelem: 4 p.-Azonosító: 67e. ISSN 13624962 (2000)

Bachrati Csanád, Somodi Z., Börcsökné Endreffy Emőke, Kalmár Tibor, Raskó István: Carrier detection by microsatellite analysis of Duchenne/Becker muscular dystrophy in Hungarian families.
Annals of Human Genetics, 62 (6). pp. 511-520. ISSN 0003-4800 (1998)

Iványi Béla, Haszon Ibolya, Endreffy Emőke, Szenohradszky Pál, Petri Ildikó B., Kalmár Tibor, Butkowski Ralph J., Charonis Aristidis S., Túri Sándor: Childhood membranous nephropathy, circulating antibodies to the 58-kD TIN antigen, and anti-tubular basement membrane nephritis: An 11-year follow-up.
American Journal of Kidney Diseases, 32 (6). pp. 1068-1074. ISSN 0272-6386 (1998)

Maróti Zoltán, Boldogkői Zsolt, Tombácz Dóra, Snyder Michael, Kalmár Tibor: Evaluation of whole exome sequencing as an alternative to BeadChip and whole genome sequencing in human population genetic analysis.
BMC GENOMICS, 19 (1). Paper 778.-13. p.. ISSN 1471-2164

This list was generated on 2019. június 20. 15:07:48 CEST.