Παρακολούθηση
Jorune Balciuniene
Jorune Balciuniene
The Children's Hospital of Philadelphia
Η διεύθυνση ηλεκτρονικού ταχυδρομείου έχει επαληθευτεί στον τομέα email.chop.edu
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Παρατίθεται από
Παρατίθεται από
Έτος
Investigation of the functional effect of monoamine oxidase polymorphisms in human brain
J Balciuniene, L Emilsson, L Oreland, U Pettersson, E Jazin
Human genetics 110, 1-7, 2002
2272002
Recurrent 10q22-q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalities
J Balciuniene, N Feng, K Iyadurai, B Hirsch, L Charnas, BR Bill, ...
The American Journal of Human Genetics 80 (5), 938-947, 2007
1272007
Increased monoamine oxidase messenger RNA expression levels in frontal cortex of Alzheimer's disease patients
L Emilsson, P Saetre, J Balciuniene, A Castensson, N Cairns, EE Jazin
Neuroscience letters 326 (1), 56-60, 2002
1112002
A gene for autosomal dominant progressive cone dystrophy (CORD5) maps to chromosome 17p12–p13
J Balciuniene, K Johansson, O Sandgren, L Wachtmeister, G Holmgren, ...
Genomics 30 (2), 281-286, 1995
971995
Alpha-tectorin involvement in hearing disabilities: one gene–two phenotypes
J Balciuniene, N Dahl, P Jalonen, K Verhoeven, G Van Camp, E Borg, ...
Human genetics 105, 211-216, 1999
861999
Automated clinical exome reanalysis reveals novel diagnoses
SW Baker, JR Murrell, AI Nesbitt, KB Pechter, J Balciuniene, X Zhao, Z Yu, ...
The Journal of Molecular Diagnostics 21 (1), 38-48, 2019
822019
The phenotype of recurrent 10q22q23 deletions and duplications
BWM Van Bon, J Balciuniene, G Fruhman, SCS Nagamani, DL Broome, ...
European journal of human genetics 19 (4), 400-408, 2011
802011
Global increases in both common and rare copy number load associated with autism
S Girirajan, RL Johnson, F Tassone, J Balciuniene, N Katiyar, K Fox, ...
Human molecular genetics 22 (14), 2870-2880, 2013
782013
Mice Mutant in the DM Domain Gene Dmrt4 Are Viable and Fertile but Have Polyovular Follicles
J Balciuniene, VJ Bardwell, D Zarkower
Molecular and cellular biology 26 (23), 8984-8991, 2006
782006
Linkage analysis of a large Swedish kindred provides further support for a susceptibility locus for schizophrenia on chromosome 6p23
E Lindholm, B Ekholm, J Balciuniene, G Johansson, A Castensson, ...
American journal of medical genetics 88 (4), 369-377, 1999
771999
Targeted transgene integration overcomes variability of position effects in zebrafish
JA Roberts, I Miguel-Escalada, KJ Slovik, KT Walsh, Y Hadzhiev, ...
Development 141 (3), 715-724, 2014
722014
Evidence for digenic inheritance of nonsyndromic hereditary hearing loss in a Swedish family
J Balciuniene, N Dahl, E Borg, E Samuelsson, MJ Koisti, U Pettersson, ...
The American Journal of Human Genetics 63 (3), 786-793, 1998
701998
Chromosome-specific panels of tri-and tetranucleotide microsatellite markers for multiplex fluorescent detection and automated genotyping: evaluation of their utility in …
AK Lindqvist, PK Magnusson, J Balciuniene, C Wadelius, E Lindholm, ...
Genome Research 6 (12), 1170-1176, 1996
681996
Two commonly expanded CAG/CTG repeat loci: involvement in affective disorders?
K Lindblad, PO Nylander, C Zander, QP Yuan, L Ståhle, C Engström, ...
Molecular psychiatry 3 (5), 405-410, 1998
671998
Etv2 and fli1b function together as key regulators of vasculogenesis and angiogenesis
MP Craig, V Grajevskaja, HK Liao, J Balciuniene, SC Ekker, JS Park, ...
Arteriosclerosis, thrombosis, and vascular biology 35 (4), 865-876, 2015
642015
The geographic distribution of monoamine oxidase haplotypes supports a bottleneck during the dispersion of modern humans from Africa
J Balciuniene, AC Syvänen, HL McLeod, U Pettersson, EE Jazin
Journal of Molecular Evolution 52, 157-163, 2001
592001
A nuclear mtDNA concatemer (Mega-NUMT) could mimic paternal inheritance of mitochondrial genome
J Balciuniene, D Balciunas
Frontiers in genetics 10, 458089, 2019
512019
Use of a dynamic genetic testing approach for childhood-onset epilepsy
J Balciuniene, ET DeChene, G Akgumus, EJ Romasko, K Cao, HA Dubbs, ...
JAMA network open 2 (4), e192129-e192129, 2019
512019
AUDIOME: a tiered exome sequencing–based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss
Q Guan, J Balciuniene, K Cao, Z Fan, S Biswas, A Wilkens, DJ Gallo, ...
Genetics in Medicine 20 (12), 1600-1608, 2018
372018
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior
HK Harris, T Nakayama, J Lai, B Zhao, N Argyrou, CS Gubbels, A Soucy, ...
Genetics in Medicine 23 (6), 1028-1040, 2021
362021
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