المؤلفون: Kumble, S., Levy, A.M., Punetha, J., Gao, H., Ah Mew, N., Anyane-Yeboa, K., Benke, P.J., Berger, S.M., Bjerglund, L., Campos-Xavier, B., Ciliberto, M., Cohen, J.S., Comi, A.M., Curry, C., Damaj, L., Denommé-Pichon, A.S., Emrick, L., Faivre, L., Fasano, M.B., Fiévet, A., Finkel, R.S., García-Miñaúr, S., Gerard, A., Gomez-Puertas, P., Guillen Sacoto, M.J., Hoffman, T.L., Howard, L., Iglesias, A.D., Izumi, K., Larson, A., Leiber, A., Lozano, R., Marcos-Alcalde, I., Mintz, C.S., Mullegama, S.V., Møller, R.S., Odent, S., Oppermann, H., Ostergaard, E., Pacio-Míguez, M., Palomares-Bralo, M., Parikh, S., Paulson, A.M., Platzer, K., Posey, J.E., Potocki, L., Revah-Politi, A., Rio, M., Ritter, A.L., Robinson, S., Rosenfeld, J.A., Santos-Simarro, F., Sousa, S.B., Wéber, M., Xie, Y., Chung, W.K., Brown, N.J., Tümer, Z.

المساهمون: Undiagnosed Diseases Network

المصدر: Human mutation, vol. 43, no. 2, pp. 266-282

مصطلحات موضوعية: Autism Spectrum Disorder/genetics, Dwarfism, Humans, Intellectual Disability/genetics, Muscle Hypotonia, Neurodevelopmental Disorders/genetics, Scoliosis, Seizures, Weight Gain, QRICH1, hypotonia, intellectual disability, short stature, variable expressivity, variant

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34859529; info:eu-repo/semantics/altIdentifier/eissn/1098-1004; https://serval.unil.ch/notice/serval:BIB_4A256FE26284Test; urn:issn:1059-7794

الإتاحة: https://doi.org/10.1002/humu.24308Test
https://serval.unil.ch/notice/serval:BIB_4A256FE26284Test

المؤلفون: Verheije, R., Kupchik, G.S., Isidor, B., Kroes, H.Y., Lynch, S.A., Hawkes, L., Hempel, M., Gelb, B.D., Ghoumid, J., D’Amours, G., Chandler, K., Dubourg, C., Loddo, S., Tümer, Z., Shaw-Smith, C., Nizon, M., Shevell, M., Van Hoof, E., Anyane-Yeboa, K., Cerbone, G., Clayton-Smith, J., Cogné, B., Corre, P., Corveleyn, A., De Borre, M., Hjortshøj, T.D., Fradin, M., Gewillig, M., Goldmuntz, E., Hens, G., Lemyre, E., Journel, H., Kini, U., Kortüm, F., Le Caignec, C., Novelli, A., Odent, S., Petit, F., Revah-Politi, A., Stong, N., Strom, T.M., van Binsbergen, E., DDD Study, Devriendt, K., Breckpot, J.

المصدر: Verheije, R, Kupchik, G S, Isidor, B, Kroes, H Y, Lynch, S A, Hawkes, L, Hempel, M, Gelb, B D, Ghoumid, J, D’amours, G, Chandler, K, Dubourg, C, Loddo, S, Tümer, Z, Shaw-smith, C, Nizon, M, Shevell, M, Van Hoof, E, Anyane-yeboa, K, Cerbone, G, Clayton-smith, J, Cogné, B, Corre, P, Corveleyn, A, De Borre, M, Hjortshøj, T D, Fradin, M, Gewillig, M, Goldmuntz, E, Hens, G, Lemyre, E, Journel, H, Kini, U, Kortüm, F, Le Caignec, C, Novelli, A, Odent, S, Petit, F, Revah-politi, A, Stong, N, Strom, T M, Van Binsbergen, E, Devriendt, K & Breckpot, J 2019, ' Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability ', European Journal of Human Genetics, vol. 27, no. 2, pp. 278-290 . https://doi.org/10.1038/s41431-018-0281-5Test
European Journal of Human Genetics, 27(2), 278. Nature Publishing Group
Eur. J. Hum. Genet. 27, 278-290 (2019)

مصطلحات موضوعية: Male, Loss of Function Mutation, Intellectual disability, Genetics(clinical), Non-U.S. Gov't, Child, Genetics (clinical), Heart Defects, Genetics, 0303 health sciences, Congenital/genetics, Research Support, Non-U.S. Gov't, 030305 genetics & heredity, Syndrome, Phenotype, Heart Defects, Congenital/genetics, Cleft Palate, Child, Preschool, Female, Haploinsufficiency, Heart Defects, Congenital, Heterozygote, Adolescent, Transcription Factors/genetics, Locus (genetics), Research Support, Article, N.I.H, 03 medical and health sciences, Young Adult, Research Support, N.I.H., Extramural, Cleft Palate/genetics, Intellectual Disability, medicine, Journal Article, Humans, Preschool, Gene, Loss function, Homeodomain Proteins, business.industry, Chromosome, Extramural, Heterozygote advantage, medicine.disease, Intellectual Disability/genetics, Homeodomain Proteins/genetics, business, Transcription Factors

وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document; text/plain; application/pdf; image/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2579d855b96e7c1ca9b154f65da5fdceTest
https://europepmc.org/articles/PMC6336847Test/

المؤلفون: Møller, R S, Jensen, L R, Maas, S M, Filmus, J, Capurro, M, Hansen, Claus, Marcelis, C L M, Ravn, K, Andrieux, J, Mathieu, M, Kirchhoff, M, Rødningen, O K, de Leeuw, N, Yntema, H G, Froyen, G, Vandewalle, J, Ballon, K, Klopocki, E, Joss, S, Tolmie, J, Knegt, A C, Lund, A M, Hjalgrim, H, Kuss, A W, Tommerup, N, Ullmann, R, de Brouwer, A P M, Strømme, P, Kjaergaard, S, Tümer, Z, Kleefstra, T

المصدر: Møller , R S , Jensen , L R , Maas , S M , Filmus , J , Capurro , M , Hansen , C , Marcelis , C L M , Ravn , K , Andrieux , J , Mathieu , M , Kirchhoff , M , Rødningen , O K , de Leeuw , N , Yntema , H G , Froyen , G , Vandewalle , J , Ballon , K , Klopocki , E , Joss , S , Tolmie , J , Knegt , A C , Lund , A M , Hjalgrim ....

مصطلحات موضوعية: Abnormalities, Multiple, Adult, Animals, Blepharoptosis, Body Height, Child, Chromosome Duplication, Cleft Palate, Female, Fingers, Genetic Diseases, X-Linked, Humans, Intellectual Disability, Karyotyping, Male, Mice, Transgenic, Microcephaly, Syndrome

الإتاحة: https://doi.org/10.1007/s00439-013-1403-3Test
https://curis.ku.dk/portal/da/publications/xlinked-congenital-ptosis-and-associated-intellectual-disability-short-stature-microcephaly-cleft-palate-digital-and-genital-abnormalities-define-novel-xq25q26-duplication-syndromeTest(fa67de5c-3b54-44db-ae23-7c7bdeb5d75c).html
http://download.springer.com/static/pdf/998/art%253A10.1007%252Fs00439-013-1403-3.pdf?auth66=1406711234_710d6259d6ba2d1d9b752d059840b3f2&ext=.pdfTest

المؤلفون: Sánchez Delgado M, Camprubí C, Tümer Z, MARTINEZ, F., Milà M, Monk D

المصدر: AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname

مصطلحات موضوعية: intellectual disability, KCNK9, Imprinting, autism spectrum disorder, methylation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::2f7c5f4add50a4273e7603b9bd4306f3Test
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=1868Test

المؤلفون: Engenheiro, E, Møller, R S, Pinto, M, Soares, G, Nikanorova, M, Carreira, I M, Ullmann, R, Tommerup, N, Tümer, Z

المصدر: Engenheiro , E , Møller , R S , Pinto , M , Soares , G , Nikanorova , M , Carreira , I M , Ullmann , R , Tommerup , N & Tümer , Z 2008 , ' Mowat-Wilson syndrome : an underdiagnosed syndrome? ' , Clinical Genetics , vol. 73 , no. 6 , pp. 579-584 . https://doi.org/10.1111/j.1399-0004.2008.00997.xTest

مصطلحات موضوعية: Abnormalities, Multiple, Chromosome Breakage, Cytogenetic Analysis, Female, Homeodomain Proteins, Humans, Infant, Newborn, Intellectual Disability, Repressor Proteins, Syndrome

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/f45bfd77-31ad-4656-8a91-cad1d571bbb7Test

الإتاحة: https://doi.org/10.1111/j.1399-0004.2008.00997.xTest
https://portal.findresearcher.sdu.dk/da/publications/f45bfd77-31ad-4656-8a91-cad1d571bbb7Test

المساهمون: Zink, Alexander M., Engels, H., Rødningen, O. K., Heilmann, S., Rehnitz, J., Kraus, Cornelia, Blichfeldt, S., Reutter, H., Kreiß-Nachtsheim, M., Vogt, P. H., Tümer, Z., Ravn, K., Katzorke, N., Brockschmidt, F. F., Prescott, T. E., Lee, J. A., Wohlleber, E., Hoffmann, P.

الإتاحة: http://nbn-resolving.de/urn:nbn:de:bvb:29-opus4-61336Test