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Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 139, Issue 4, pp. 1396 - 1399.e12
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2017, Volume 7, Issue 1, pp. 4287 - 9
Despite efforts to interrogate human genome variation through large-scale databases, systematic preference toward populations of Caucasian descendants has... 
DNA | ANNOTATION | MULTIDISCIPLINARY SCIENCES | FRAMEWORK | HUMAN EXOMES | EAST-ASIA | COPY NUMBER VARIATION | SEQUENCING DATA | ANCESTRY | Databases | Archives & records | Copy number | Genomes | Genetic diversity | Population genetics | Minority & ethnic groups
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 10/2016, Volume 113, Issue 43, pp. 12238 - 12243
Journal Article
Annals of Neurology, ISSN 0364-5134, 09/2017, Volume 82, Issue 3, pp. 466 - 478
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 04/2015, Volume 60, Issue 4, pp. 213 - 215
Multiple pterygium syndrome (MPS) is an autosomal recessively inherited condition that becomes evident before birth, with pterygium at multiple joints and... 
VARIANTS | GENETICS & HEREDITY | SUBUNIT | Amino Acid Sequence | Humans | Child, Preschool | Male | Arthrogryposis - genetics | Arthrogryposis - diagnosis | Exome | Phenotype | Pedigree | Female | High-Throughput Nucleotide Sequencing | Mutation | Child | Receptors, Nicotinic - genetics | Amino Acid Substitution
Journal Article
Brain and Development, ISSN 0387-7604, 05/2018, Volume 40, Issue 5, pp. 429 - 432
A recurrent de novo mutation in (c.959G > A, p.Arg320His) has been identified recently as one of the important genetic causes of progress myoclonic epilepsy... 
KCNC1 | Parental mosaicism | Progressive myoclonic epilepsy | KCNCI | CLINICAL NEUROLOGY | Parenting | Myoclonic epilepsy | Medical colleges | Genetic aspects | Seizures (Medicine) | Nucleotide sequencing | Potassium channels | Genetic screening | DNA sequencing
Journal Article
Nature Genetics, ISSN 1061-4036, 02/2011, Volume 43, Issue 4, pp. 321 - 329
Journal Article
Nature Genetics, ISSN 1061-4036, 09/2012, Volume 44, Issue 9, pp. 1006 - 1014
Journal Article
Nature, ISSN 0028-0836, 05/2012, Volume 484, Issue 7397, pp. 237 - 241
Journal Article