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Exons
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ExOrthist: a tool to infer exon orthologies at any evolutionary distance
2021 |
Faculty of Science
publication
Non-invasive fetal RHD exon 7 and exon 10 genotyping using real-time PCR testing of fetal DNA in maternal plasma
2005 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
publication
Exon 5 of the RET proto-oncogene: A newly detected risk exon for familial medullary thyroid carcinoma, a novel germ-line mutation Gly321Arg
2005 |
Faculty of Medicine in Hradec Králové, First Faculty of Medicine, Central Library of Charles University, Second Faculty of Medicine
publication
Exon 5 of the RET proto-oncogene: A newly detected risk exon for familial medullary thyroid carcinoma, a novel germ-line mutation Gly321Arg
2005 |
First Faculty of Medicine
publication
Exon 5 of the RET proto-oncogene: A newly detected risk exon for familial medullary thyroid carcinoma, a novel germ-line mutation Gly321 Arg
2005 |
Second Faculty of Medicine
publication
Exon 5 of the RET proto-oncogene: A newly detected risk exon for familial medullary thyroid carcinoma, a novel germ-line mutation Gly321 Arg
2005 |
Faculty of Medicine in Hradec Králové, Central Library of Charles University
publication
The newly detected mutations in the RET proto-oncogene in exon 16 as a cause of sporadic medullary thyroid carcinoma
2003 |
Second Faculty of Medicine
publication
Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies
2018 |
Second Faculty of Medicine
publication
Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia
2012 |
Second Faculty of Medicine
publication
Dendritic cell neurofibroma with pseudorosettes lacks mutations in Exons 1-15 of the neurofibromatosis type 2 gene
2005 |
First Faculty of Medicine, Faculty of Medicine in Pilsen
publication
LAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?
2018 |
First Faculty of Medicine, Central Library of Charles University, Second Faculty of Medicine
publication
A novel insertion of a rearranged L1 element in exon 44 of the dystrophin gene: Further evidence for possible bias in retroposon integration
2006 |
Second Faculty of Medicine
publication
A case of Brooke-Spiegler syndrome with a novel germline deep intronic mutation in the CYLD gene leading to intronic exonization, diverse somatic mutations, and unusual histology
2009 |
First Faculty of Medicine, Faculty of Medicine in Pilsen
publication
Non-invasive fetal RHD exon 7 and exon 10 genotyping using real-time PCR testing of fetal DNA in maternal plasma
2005 |
Second Faculty of Medicine
publication
Non-invasive fetal RHD exon 7 and exon 10 genotyping using real-time PCR testing of fetal DNA in maternal plasma
2005 |
First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Exon 5 of the RET proto-oncogene: A newly detected risk exon for familial medullary thyroid carcinoma, a novel germ-line mutation Gly321Arg
2005 |
Faculty of Medicine in Hradec Králové
publication
Long-term surviving patient with EGFR mutation - deletion on exon 79 and acquired resistant mutation T790 - case report
2020 |
Faculty of Medicine in Pilsen
publication
Rat cardiac neurons express the non-coding R-exon (exon 1) of the cholinergic gene locus
1998 |
Faculty of Medicine in Pilsen
publication
Exon 1 Polymorphism of the B2BKR gene does not influence the clinical status of patients with hereditary angioedema
2002 |
First Faculty of Medicine
publication
Detailed molecular characterization of a novel IDS exonic mutation associated with multiple pseudoexon activation
2017 |
First Faculty of Medicine
publication
Mutations in exon 2 of GATA1 are early events in megakaryocytic malignancies associated with trisomy 21
2003 |
Second Faculty of Medicine
publication
A novel insertion of a rearranged L1 element in exon 44 og the dystrophin gene: Further evidence for possible bias in retroposon integration
2006 |
First Faculty of Medicine
publication
A novel insertion of a rearranged L1 element in exon 44 og the dystrophin gene: Further evidence for possible bias in retroposon integration
2006 |
Faculty of Physical Education and Sport
publication
Screening of six risk exons of the RET proto-oncogene in families with medullary thyroid carcinoma in the Czech Republic
2004 |
Second Faculty of Medicine
publication
TEL/AML1-Positive Patients Lacking TEL Exon 5 Resemble Canonical TEL/AML1 Cases
2011 |
Second Faculty of Medicine
publication
Exon 5 of the RET proto-oncogene: A newly detected risk exon for familial medullary thyroid carcinoma, a novel germ-line mutation Gly321 Arg
2005 |
First Faculty of Medicine
publication
Somatic Mutations in Exon 7 of the TP53 Gene in Index Colorectal Lesions Are Associated with the Early Occurrence of Metachronous Adenoma
2022 |
First Faculty of Medicine, Central Library of Charles University, Faculty of Science
publication
Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9
2006 |
Second Faculty of Medicine
publication
A novel c. 204 Ile68Met germline variant in exon 2 of the mutL homolog 1 gene in a colorectal cancer patient
2015 |
First Faculty of Medicine
publication
The apo(a) gene (TTTTA)(n) promoter polymorphism and its association with variability in exons of the kringle IV types 8 to 10
2009 |
First Faculty of Medicine