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Journal of Medical Genetics, ISSN 0022-2593, 07/2014, Volume 51, Issue 7, pp. 455 - 459
Background Human de novo single-nucleotide variation (SNV) rate is estimated to range between 0.82–1.70×10−8 mutations per base per generation. However,... 
Developmental | RATES | Early post-zygotic | PRIMER DESIGN | GENETICS & HEREDITY | Genetics | Mosaicism | Mutation rate | GENOME | PROGRAM | Twins, Monozygotic - genetics | Gene Frequency | Humans | Adult | Male | Mutation Rate | Polymorphism, Single Nucleotide | Mutation | Sequence Analysis, DNA | Zygotes | Genetic aspects | Research | Gene mutations | Twins | Index Medicus
Journal Article
Nature Medicine, ISSN 1078-8956, 10/2018, Volume 24, Issue 10, pp. 1611 - 1624
Journal Article
2015 37th Annual International Conference of the IEEE Engineering in Medicine and Biology Society (EMBC), ISSN 1094-687X, 08/2015, Volume 2015-, pp. 6453 - 6456
Conference Proceeding
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2017, Volume 27, Issue 11, pp. 997 - 1008
Journal Article
New BIOTECHNOLOGY, ISSN 1871-6784, 07/2016, Volume 33, pp. S180 - S180
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 12/2015, Volume 60, Issue 12, pp. 763 - 768
We report an association between a new causative gene and spastic paraplegia, which is a genetically heterogeneous disorder. Clinical phenotyping of one... 
SEQUENCING DATA | DROSOPHILA | GENETICS & HEREDITY | Sequence Deletion | Microtubule-Associated Proteins - genetics | Quantitative Trait, Heritable | Codon, Terminator - genetics | Exons | Humans | Genetic Diseases, Inborn - genetics | Paraplegia - genetics | Male | Genes, Recessive | Exome | Base Sequence | Female
Journal Article
Journal of Clinical Research in Pediatric Endocrinology, ISSN 1308-5727, 06/2017, Volume 9, Issue 1, p. 20
Lin-Gettig syndrome, described by Lin and Gettig in 1990, is a very rare autosomal recessive disease. The syndrome is characterized by craniosynostosis, severe... 
Intellectual disabilities | Mutation
Journal Article
Acta neurologica Belgica, 03/2017, Volume 117, Issue 1, p. 159
Neuronal ceroid lipofuscinosis (NCL), one of the most common neurodegenerative childhood-onset disorders, is characterized by autosomal-recessive inheritance,... 
Membrane Proteins - genetics | Humans | Male | Young Adult | Homozygote | Exome - genetics | Neuronal Ceroid-Lipofuscinoses - genetics | Turkey | DNA Mutational Analysis | Pedigree | Adolescent | Adult | Mutation
Journal Article
Genome Announcements, ISSN 2169-8287, 2016, Volume 4, Issue 3
The draft genome sequences of two heat-resistant mutant strains, A52 and B41, derived from Rhodobacter capsulatus DSM 1710, and with different hydrogen... 
Journal Article
Acta Neurologica Belgica, ISSN 0300-9009, 3/2017, Volume 117, Issue 1, pp. 159 - 167
Neuronal ceroid lipofuscinosis (NCL), one of the most common neurodegenerative childhood-onset disorders, is characterized by autosomal-recessive inheritance,... 
Neurology | Neurosciences | Biomedicine | NCL | Northern epilepsy | Neuronal ceroid lipofuscinosis | CLN8 | Medicine/Public Health, general | Neuroradiology | VARIANT | CHILDHOOD | NEUROSCIENCES | PROGRAM | CLINICAL NEUROLOGY | NEURONAL CEROID-LIPOFUSCINOSIS | FEATURES
Journal Article
Journal of Clinical Research in Pediatric Endocrinology, ISSN 1308-5727, 06/2017, Volume 9, Issue 2, p. 20
Journal Article
Journal Article
BMC Genetics, ISSN 1471-2156, 09/2013, Volume 14, Issue 1
Klippel-Feil syndrome (KFS) is characterized by the developmental failure of the cervical spine and has two dominantly inherited subtypes. Affected individuals... 
Genetic aspects | Genomes | Gene mutations | Scoliosis | Marriage | Genomics | Genetic research | Klippel-Feil syndrome
Journal Article
Genome informatics. International Conference on Genome Informatics, ISSN 0919-9454, 2010, Volume 24, pp. 31 - 41
The G-protein coupled receptor (GPCR) superfamily is the largest class of proteins with therapeutic value. More than 40% of present prescription drugs are GPCR... 
Computational Biology - methods | Humans | Models, Molecular | Rats | Drug Discovery - methods | Algorithms | Animals | Databases, Protein | Protein Binding | Ligands | Protein Conformation | Mice | Binding Sites | Receptors, G-Protein-Coupled - chemistry | Cluster Analysis
Journal Article
Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics), ISSN 0302-9743, 2006, Volume 4263, pp. 174 - 181
Conference Proceeding
Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics), ISSN 0302-9743, 2016, Volume 9874, pp. 220 - 232
Conference Proceeding
HEALTHINF 2014 - 7th International Conference on Health Informatics, Proceedings; Part of 7th International Joint Conference on Biomedical Engineering Systems and Technologies, BIOSTEC 2014, 2014, pp. 310 - 316
Conference Proceeding
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