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Nature Genetics, ISSN 1061-4036, 2014, Volume 46, Issue 4, pp. 380 - 384
Journal Article
Tremor and other hyperkinetic movements (New York, N.Y.), ISSN 2160-8288, 2017, Volume 7, pp. 529 - 529
Paroxysmal kinesigenic dyskinesia (PKD) is a rare condition associated with heterozygous mutations in the proline-rich transmembrane protein 2 ( ) gene. In... 
Paroxysmal kinesigenic dyskinesia | PRRT2 | carbamazepine | Index Medicus
Journal Article
by Tomson, Torbjörn and Battino, Dina and Bonizzoni, Erminio and Craig, John and Lindhout, Dick and Perucca, Emilio and Sabers, Anne and Thomas, Sanjeev V and Vajda, Frank and Faravelli, Francesca and Pantaleoni, Chiara and Robert-Gnansia, Elisabeth and Cabral-Lim, Leonor and Čebular, Boštjan and De Marinis, Alejandro and Kälviäinen, Reetta and Khomeriki, Ketevan and Kiteva-Trencevska, Gordana and Kochen, Silvia and Kurthen, Martin and Luef, Gerhard and Martinez Ferri, Meritxell and Milovanović, Maja and Nakken, Karl Otto and Neufeld, Miri and Ohtani, Hideyuki and Russell, Aline and Safcák, Vladimír and Schmitz, Bettina and Specchio, Luigi Maria and Tettenborn, Barbara and van Puijenbroek, Eugene and Yu, Hsiang-Yu and Zarubova, Jana and Albretsen, Claus and Alvestad, Silje and Andersen, Noemi Becser and Antonini, Luisa and Arentsen, Jens and Aurlien, Dag and Barzinji, Ismael and Becerra Cuñat, Juan Luis and Bohorquez Morera, Natalia and Brodie, Martin J and Brodtkorb, Eylert and Broglio, Laura and Bruun Christensen, Elsebeth and Bušek, Petr and Cagnetti, Claudia and Canevini, Maria Paola and Carius, Astrid and Castro Vilanova, Maria Dolores and Cecconi, Michela and Chang, T-Y and Christensen, Jakob and De Maria, Giovanni and Dennig, Dieter and Diputado, Brenda and Ertresvåg, Janne Marit and Escartin, Toni and Flügel, Dominique and Forsom Sondal, Birgitte and Foschi, Nicoletta and Franza, Albertina and Fukushima, Katsuyuki and Gambardella, Antonio and Garamendi Ruiz, Iñigo and Gauffin, Helena and Gellert, Pia and Gjerstad, Leif and Gordon, Lisa and Haggag, Katrine and Halawa, Imad and Heikinheimo-Connell, Terttu and Hendgen, Tim and Hertz, Zarouhi and Hildenhagen, Odo and Hödl, Stephanie and Hogenesch, Ineke and Huuse Farmen, Anette and Inoue, Yushi and Juhl, Stefan and Kato, Masaaki and Kenou Van Rijckevorssel, Germaine and Kluck, E and Krijtová, Hana and Kumlien, Eva and Labate, Angelo and Lasch, Theresa and Lindsten, Hans and Listonova, Renata and Lossius, Rasmus and Lundgren, Anders and Malmgren, Kristina and Marečková, Iva and Marino, Daniela and Mattsson, Peter and McGonigal, Aileen and Miesczanleh, Katarzyna and Mizobuchi, Masahiro and ... and EURAP Study Grp and EURAP Study Group
The Lancet Neurology, ISSN 1474-4422, 06/2018, Volume 17, Issue 6, pp. 530 - 538
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2016, Volume 98, Issue 2, pp. 373 - 381
Journal Article
PLoS ONE, ISSN 1932-6203, 12/2013, Volume 8, Issue 12, pp. e80114 - e80114
Progesterone receptor modulators, such as mifepristone are useful and well tolerated in reducing leiomyoma volume although with large individual variation. The... 
WOMEN | PLACEBO | UTERINE LEIOMYOMATA | MULTIDISCIPLINARY SCIENCES | SUSCEPTIBILITY | ULIPRISTAL ACETATE | PROLIFERATION | POLYMORPHISM | TRANSFERASE CLASS-MU | CANCER | ENDOMETRIOSIS | Uterus - pathology | Oligonucleotide Array Sequence Analysis | Uterine Neoplasms - pathology | Humans | Uterus - drug effects | Gene Expression Regulation, Neoplastic | Gene Expression Profiling | Receptors, Progesterone - genetics | Receptors, Progesterone - antagonists & inhibitors | Receptors, Progesterone - metabolism | Uterine Neoplasms - enzymology | Leiomyoma - pathology | Glutathione Transferase - genetics | Leiomyoma - enzymology | Female | Biomarkers - metabolism | Uterine Neoplasms - genetics | Premenopause | Signal Transduction | Glutathione Transferase - metabolism | Tumor Burden - drug effects | Leiomyoma - drug therapy | Uterine Neoplasms - drug therapy | Hormone Antagonists - therapeutic use | Uterus - enzymology | Leiomyoma - genetics | Mifepristone - therapeutic use | Leiomyoma | Care and treatment | RNA | Analysis | Menopause | Genes | Mifepristone | Progesterone | Gene expression | Childrens health | Medical services | Clinical trials | GSTM1 gene | Gene deletion | Cancer therapies | Modulators | Accumulation | Reduction | Clonal deletion | Uterus | Bioaccumulation | Surgery | Deletion | Genetics | Bioindicators | Glutathione | Medical research | Immunomodulation | Medical treatment | Gynecology | Endometriosis | Fibroids | GSTM1 protein | Regression analysis | Ribonucleic acid--RNA | Patients | Obstetrics | Children & youth | Hospitals | DNA microarrays | Womens health | Correlation analysis | Biomarkers | Protocol (computers) | Tumors | Index Medicus | Ribonucleic acid
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 02/2016, Volume 24, Issue 2, pp. 198 - 207
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 01/2015, Volume 23, Issue 9, pp. 1176 - 1185
textabstractLoss-of-function variants in ANKRD11 were identified as the cause of KBG syndrome, an autosomal dominant syndrome with specific dental,... 
16Q24.3 | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | COGNITIVE IMPAIRMENT | PATIENT | IDENTIFICATION | GENOME | DELETION | HAPLOINSUFFICIENCY | Abnormalities, Multiple - pathology | Tooth Abnormalities - diagnosis | Humans | Middle Aged | Autism Spectrum Disorder - complications | Child, Preschool | Intellectual Disability - complications | Male | Bone Diseases, Developmental - genetics | Bone Diseases, Developmental - pathology | Intellectual Disability - genetics | Exome | DNA Mutational Analysis | Tooth Abnormalities - complications | Gene Deletion | Facies | Adult | Female | Bone Diseases, Developmental - complications | Bone Diseases, Developmental - diagnosis | Child | Abnormalities, Multiple - genetics | Autism Spectrum Disorder - diagnosis | Autism Spectrum Disorder - genetics | Gene Expression | Tooth Abnormalities - genetics | Intellectual Disability - pathology | Repressor Proteins - genetics | Genotype | Autism Spectrum Disorder - pathology | Phenotype | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Adolescent | Chromosomes, Human, Pair 16 | Tooth Abnormalities - pathology | Phenotypes | Hyperactivity | Teeth | Genomes | Neurodevelopmental disorders | Patients | Hip | Hearing loss | Autism | Genotype & phenotype | Hearing | Nose | Phenotyping | Incisors | Genetics | Children | Mutation | Index Medicus
Journal Article