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Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2012, Volume 7, Issue 1, pp. 96 - 96
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 06/2016, Volume 24, Issue 6, pp. 844 - 851
Journal Article
Journal Article
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 11/2013, Volume 110, Issue 3, pp. 263 - 267
Journal Article
Genetics and molecular biology, ISSN 1415-4757, 2019, Volume 43, Issue 1 suppl 1, p. e20190046
Xeroderma pigmentosum (XP) is a rare, genetic, autosomal nucleotide excision repair-deficient disease characterized by sun-sensitivity and early appearance of... 
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 3/2012, Volume 109, Issue 13, pp. 4980 - 4985
The human genome is densely populated with transposons and transposon-like repetitive elements. Although the impact of these transposons and elements on human... 
Retrotransposons | Nervous system diseases | MicroRNA | Transposons | RNA | Small interfering RNA | Genetic loci | Encephalopathies | Genetic mutation | Sequencing | Pediatrics | Medulla oblongata | Long noncoding RNA | Long interspersed element 1 | Genetic disease | long interspersed element 1 | MULTIDISCIPLINARY SCIENCES | IDENTIFICATION | PREDICTION | ELEMENTS | pediatrics | GENES | SEQUENCE | DISEASE | long noncoding RNA | SIGNAL RECOGNITION PARTICLE | CENTRAL-NERVOUS-SYSTEM | genetic disease | EXPRESSION | medulla oblongata | BRAIN | Geography | Chromosomes, Human, Pair 8 - genetics | Conserved Sequence - genetics | Genes, Recessive - genetics | Humans | Brain Diseases - genetics | Molecular Sequence Data | Nucleotides - genetics | Infant | Anorexia - genetics | Genetic Loci | Anorexia - complications | RNA, Untranslated - genetics | Retroelements - genetics | Young Adult | Base Sequence | RNA, Untranslated - chemistry | Nucleic Acid Conformation | Introns - genetics | Indian Ocean | Chromosome Mapping | Mutation - genetics | Disease Progression | Magnetic Resonance Imaging | Phenotype | Primates - genetics | Animals | Brain Diseases - pathology | Brain Diseases - complications | Chromosome Segregation - genetics | Encephalopathy | Physiological aspects | Development and progression | Genetic aspects | Health aspects | Life Sciences | Human health and pathology | Neurons and Cognition | Neurobiology | Genetics | Human genetics | Biological Sciences
Journal Article
by Ballantyne, Kaye and Ralf, Arwin and Aboukhalid, Rachid and Achakzai, Niaz and Anjos, Tania and Ayub, Qasim and Balažic, Jože and Ballantyne, Jack and Ballard, David and Berger, Burkhard and Bobillo, Cecilia and Bouabdellah, Mehdi and Burri, Helen and Capal, Tomas and Caratti, Stefano and Cárdenas, Jorge and Cartault, François and Carvalho, Elizeu and Carvalho, Margarete and Cheng, Baowen and Coble, Michael and Comas, David and Corach, Daniel and D'Amato, Mauro and Davison, Sean and Knijff, Peter and Ungria, Maria Corazon and Decorte, Ronny and Dobosz, Tadeusz and Dupuy, Berit and Elmrghni, Samir and Gliwiński, Mateusz and Gomes, Sara and Grol, Laurens and Haas, Cordula and Hanson, Erin and Henke, Jürgen and Henke, Lotte and Herrera-Roíguez, Fabiola and Hill, Carolyn and Holmlund, Gunilla and Honda, Katsuya and Immel, Uta-Dorothee and Inokuchi, Shota and Jobling, R and Kaddura, Mahmoud and Kim, Jong and Kim, Soon and Kim, Wook and King, Turi and Klausriegler, Eva and Kling, Daniel and Kovačević, Lejla and Kovatsi, Leda and Krajewski, Paweł and Kravchenko, Sergey and Larmuseau, Maarten and Lee, Eun Young and Lessig, Rüdiger and Livshits, Ludmila and Marjanović, Damir and Minarik, Marek and Mizuno, Natsuko and Moreira, Helena and Morling, Niels and Mukherjee, Meeta and Munier, Patrick and Nagaraju, Javaregowda and Neuhuber, Franz and Nie, Shengjie and Nilasitsataporn, Premlaphat and Nishi, Takeki and Oh, Hye and Olofsson, Sylvia and Onofri, Valerio and Palo, Jukka and Pamjav, Horolma and Parson, Walther and Petlach, Michal and Phillips, Christopher and Ploski, Rafal and Prasad, Samayamantri P and Primorac, gan and Purnomo, Gludhug and Purps, Josephine and Rangel-Villalobos, Hector and Reogonekbała, Krzysztof and Rerkamnuaychoke, Budsaba and Gonzalez, Danel Rey and Robino, Carlo and Roewer, Lutz and Rosa, Anna and Sajantila, Antti and Sala, Anea and Salvador, Jazelyn and Sanz, Paula and Schmitt, Christian and Sharma, Anisha K and Silva, Dayse and Shin, Kyoung-Jin and ... and Linköpings universitet and Institutionen för klinisk och experimentell medicin and Hälsouniversitetet and Avdelningen för mikrobiologi och molekylär medicin
Human Mutation, ISSN 1059-7794, 01/2014, Volume 35, Issue 8, pp. 1021 - 1032
Journal Article
GENETICS AND MOLECULAR BIOLOGY, ISSN 1415-4757, 2020, Volume 43, Issue 1
Xeroderma pigmentosum (XP) is a rare, genetic, autosomal nucleotide excision repair-deficient disease characterized by sun-sensitivity and early appearance of... 
DNA repair deficient diseases | Comorian Archipelago | Bantu haplogroups | sun-sensitivity | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | XPC gene
Journal Article
PLoS ONE, ISSN 1932-6203, 01/2013, Volume 8, Issue 1, p. e54791
Journal Article
Clinical Genetics, ISSN 0009-9163, 01/2019, Volume 95, Issue 1, pp. 177 - 181
Reunion Island is a French oversea department in the Indian Ocean with 1.6/1000, an estimated prevalence of deafness that is almost double as compared to the... 
LHFPL5 | vestibular areflexia | profound deafness | WES | founder effect | Reunion Island | HEARING-LOSS | TMHS | GENE | RNA | GENETICS & HEREDITY | MUTATIONS | Deafness | Analysis | Genetic disorders | Phenotypes | Temporal bone | Vestibular system | Children | Lipoma
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 07/2016, Volume 24, Issue 7, pp. 992 - 1000
Journal Article