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1Academic Journal
المصدر: The YWHAG Study Group 2024 , ' Clinical and molecular characterization of patients with YWHAG-related epilepsy ' , Epilepsia , vol. 65 , no. 5 , pp. 1439-1450 . https://doi.org/10.1111/epi.17939
مصطلحات موضوعية: epilepsy, genotype–phenotype correlation, YWHAG, Genetic Association Studies, Humans, Child, Preschool, Infant, Male, Electroencephalography, Developmental Disabilities/genetics, Intellectual Disability/genetics, Young Adult, Magnetic Resonance Imaging, Phenotype, Epilepsy/genetics, Adolescent, Adult, Female, Cohort Studies
وصف الملف: application/pdf
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2Academic Journal
المؤلفون: Montillot, C., Skutunova, E., Ayushma, X., Dubied, M., Lahmar, A., Nguyen, S., Peerally, B., Prin, F., Duffourd, Y., Thauvin-Robinet, C., Duplomb, L., Wang, H., Ansar, M., Faivre, L., Navarro, N., Minocha, S., Collins, S.C., Yalcin, B.
المصدر: Neurobiology of disease, vol. 185, pp. 106259
مصطلحات موضوعية: Child, Humans, Male, Female, Animals, Mice, Microcephaly/genetics, Microcephaly/pathology, Muscle Hypotonia/genetics, Muscle Hypotonia/pathology, Retinal Degeneration/genetics, Developmental Disabilities/genetics, Phenotype, Brain neuroanatomical phenotyping, Cohen syndrome, Mouse mutants, Neurodegeneration, VPS13B
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/37573958; info:eu-repo/semantics/altIdentifier/eissn/1095-953X; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_A406CDD68AAD0; https://serval.unil.ch/notice/serval:BIB_A406CDD68AAD; https://serval.unil.ch/resource/serval:BIB_A406CDD68AAD.P001/REF.pdf
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3Academic Journal
المؤلفون: Rossi, Alessandra, Blok, Lot Snijders, Neuser, Sonja, Klöckner, Chiara, Platzer, Konrad, Faivre, Laurence Olivier, Weigand, Heike, Dentici, Maria L., Tartaglia, Marco, Niceta, Marcello, Alfieri, Paolo, Srivastava, Siddharth, Coulter, David, Smith, Lacey, Vinorum, Kristin, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Torun, Deniz, Arslan, Mutluay, Lauridsen, Mathilde F., Murch, Oliver, Irving, Rachel, Lynch, Sally A., Mehta, Sarju G., Carmichael, Jenny, Zonneveld-Huijssoon, Evelien, de Vries, Bert, Kleefstra, Tjitske, Johannesen, Katrine M., Westphall, Ian T., Hughes, Susan S., Smithson, Sarah, Evans, Julie, Dudding-Byth, Tracy, Simon, Marleen, van Binsbergen, Ellen, Herkert, Johanna C., Beunders, Gea, Oppermann, Henry, Bakal, Mert, Møller, Rikke S., Rubboli, Guido, Bayat, Allan
المصدر: Rossi , A , Blok , L S , Neuser , S , Klöckner , C , Platzer , K , Faivre , L O , Weigand , H , Dentici , M L , Tartaglia , M , Niceta , M , Alfieri , P , Srivastava , S , Coulter , D , Smith , L , Vinorum , K , Cappuccio , G , Brunetti-Pierri , N , Torun , D , Arslan , M , Lauridsen , M F , Murch , O , Irving , R , Lynch , S A , Mehta , ....
مصطلحات موضوعية: autism, cupped ears, epilepsy, neurodevelopmental disorder, POU3F3, Mutation, Missense/genetics, Humans, Autistic Disorder/genetics, Developmental Disabilities/genetics, Intellectual Disability/genetics, Phenotype, Epilepsy/genetics, Child, POU Domain Factors/genetics
وصف الملف: application/pdf
الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/4398f477-70c1-4830-8eaa-90a38cfd3531
https://doi.org/10.1111/cge.14353
https://findresearcher.sdu.dk/ws/files/263875625/Clinical_Genetics_-_2023_-_Rossi_-_POU3F3_related_disorder_Defining_the_phenotype_and_expanding_the_molecular_spectrum.pdf -
4Academic Journal
المؤلفون: Lines, Matthew A., Goldenberg, Paula, Wong, Ashley, Srivastava, Siddharth, Bayat, Allan, Hove, Hanne, Karstensen, Helena Gásdal, Anyane-Yeboa, Kwame, Liao, Jun, Jiang, Nan, May, Alison, Guzman, Edwin, Morleo, Manuela, D'Arrigo, Stefano, Ciaccio, Claudia, Pantaleoni, Chiara, Castello, Raffaele, McKee, Shane, Ong, Jinfon, Zibdeh-Lough, Hana, Tran-Mau-Them, Frederic, Gerasimenko, Anna, Heron, Delphine, Keren, Boris, Margot, Henri, de Sainte Agathe, Jean Madeleine, Burglen, Lydie, Voets, Thomas, Vriens, Joris, Innes, A. Micheil, Dyment, David A.
المصدر: Lines , M A , Goldenberg , P , Wong , A , Srivastava , S , Bayat , A , Hove , H , Karstensen , H G , Anyane-Yeboa , K , Liao , J , Jiang , N , May , A , Guzman , E , Morleo , M , D'Arrigo , S , Ciaccio , C , Pantaleoni , C , Castello , R , McKee , S , Ong , J , Zibdeh-Lough , H , Tran-Mau-Them , F , Gerasimenko , A , Heron , D , Keren , B , Margot ....
مصطلحات موضوعية: Genematcher, global developmental delay, intellectual disability, seizures, TRPM3, Epilepsy, Humans, Infant, Newborn, Diseases, Mutation, Missense, Developmental Disabilities/genetics, Whole Exome Sequencing, Intellectual Disability/genetics, Muscle Hypotonia/genetics, TRPM Cation Channels/genetics, Child
وصف الملف: application/pdf
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5Academic Journal
المؤلفون: Rubboli, Guido, Johannesen, Katrine M.
المصدر: Rubboli , G & Johannesen , K M 2022 , ' Expanding the phenotype of PURA-related developmental epileptic encephalopathy ' , Epileptic Disorders , vol. 24 , no. 2 , pp. 445-446 . https://doi.org/10.1684/epd.2021.1407
مصطلحات موضوعية: Child, DNA-Binding Proteins/genetics, Developmental Disabilities/genetics, Epilepsy/genetics, Humans, Mutation, Phenotype, Spasms, Infantile, Transcription Factors/genetics
وصف الملف: application/pdf
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6Academic Journal
المؤلفون: Kingdom, R., Beaumont, R. N., Wood, A. R., Weedon, M. N., Wright, C. F.
مصطلحات موضوعية: Humans, Multifactorial Inheritance/genetics, Phenotype, Developmental Disabilities/genetics, Female, Male, Genetic Predisposition to Disease, Genetic Variation, United Kingdom, Genes, Modifier, Middle Aged, Genome-Wide Association Study
Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/38637616/; Kingdom R, Beaumont RN, Wood AR, Weedon MN, Wright CF. Genetic modifiers of rare variants in monogenic developmental disorder loci. Nat Genet. 2024;56(5):861-8.; Nature genetics; PMC11096126; https://hdl.handle.net/11287/623315
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7Academic Journal
المؤلفون: Schmidt, Julia, Goergens, Jonas, Pochechueva, Tatiana, Kotter, Annika, Schwenzer, Niko, Sitte, Maren, Werner, Gesa, Altmüller, Janine, Thiele, Holger, Nürnberg, Peter, Isensee, Jörg, Li, Yun, Müller, Christian, Leube, Barbara, Reinhardt, H. Christian, Hucho, Tim, Salinas, Gabriela, Helm, Mark, Jachimowicz, Ron D., Wieczorek, Dagmar, Kohl, Tobias, Lehnart, Stephan E., Yigit, Gökhan, Wollnik, Bernd
المصدر: http://lobid.org/resources/99370671251406441#!, 140(12):1679-1693.
مصطلحات موضوعية: Infant, Newborn [MeSH], Progeria/pathology [MeSH], Molecular Medicine, Genomic Instability [MeSH], Original Investigation, Male [MeSH], RNA, Transfer/genetics [MeSH], Developmental Disabilities/pathology [MeSH], Developmental Disabilities/genetics [MeSH], Progeria/genetics [MeSH], Human Genetics, Homozygote [MeSH], Consanguinity [MeSH], Mutation [MeSH], Humans [MeSH], Sequence Analysis, RNA [MeSH], DNA Damage [MeSH], Genome, Human [MeSH], Pedigree [MeSH], Metabolic Diseases, RNA-Binding Proteins/genetics [MeSH], Gene Function, Alleles [MeSH], GTP-Binding Proteins/genetics [MeSH], Telomere Shortening [MeSH]
Relation: https://repository.publisso.de/resource/frl:6446826; https://doi.org/10.1007/s00439-021-02347-3; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8553732/
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8Academic Journal
المؤلفون: Klau, Julia, Abou Jamra, Rami, Radtke, Maximilian, Oppermann, Henry, Lemke, Johannes, Beblo, Skadi, Popp, Bernt
المصدر: http://lobid.org/resources/99370671030206441#!, 30(1):117-125.
مصطلحات موضوعية: Adolescent [MeSH], Neurodevelopmental disorders, Humans [MeSH], Whole Exome Sequencing/methods [MeSH], Costs and Cost Analysis [MeSH], Genetic Testing/economics [MeSH], Paediatrics, Genetics research, Article, Spasms, Infantile/genetics [MeSH], Infant [MeSH], Rare Diseases/genetics [MeSH], Developmental Disabilities/pathology [MeSH], Young Adult [MeSH], Developmental Disabilities/genetics [MeSH], Whole Exome Sequencing/economics [MeSH], Genetic Testing/methods [MeSH], Rare Diseases/diagnosis [MeSH], Infantile/pathology [MeSH], Child [MeSH], Genetic testing, Epilepsy, Child, Preschool [MeSH]
Relation: https://repository.publisso.de/resource/frl:6442770; https://doi.org/10.1038/s41431-021-00981-z; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8738730/
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9Academic Journal
المصدر: Deciphering Developmental Disorders Study 2021 , ' The contribution of X-linked coding variation to severe developmental disorders ' , Nature Communications , vol. 12 , no. 1 , 627 . https://doi.org/10.1038/s41467-020-20852-3
مصطلحات موضوعية: Chromosomes, Human, X/genetics, Developmental Disabilities/genetics, Female, Genes, Recessive, X-Linked, Genetic Diseases, X-Linked/genetics, Genetic Variation, Humans, Inheritance Patterns/genetics, Male, Multifactorial Inheritance/genetics, Mutation/genetics, Phenotype, Sex Characteristics
وصف الملف: application/pdf
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10Academic Journal
المؤلفون: Lebon, S., Quinodoz, M., Peter, V.G., Gengler, C., Blanchard, G., Cina, V., Campos-Xavier, B., Rivolta, C., Superti-Furga, A.
المصدر: Genes, vol. 12, no. 9, pp. 1397
مصطلحات موضوعية: Abortion, Eugenic, Agenesis of Corpus Callosum/complications, Agenesis of Corpus Callosum/diagnosis, Agenesis of Corpus Callosum/genetics, Child, Preschool, Developmental Disabilities/complications, Developmental Disabilities/genetics, Facial Asymmetry/complications, Facial Asymmetry/genetics, Family, Female, Fetal Diseases/diagnosis, Fetal Diseases/genetics, Heterozygote, Humans, Intellectual Disability/complications, Intellectual Disability/diagnosis, Intellectual Disability/genetics, Jumonji Domain-Containing Histone Demethylases/genetics, Mutation, Missense, Nuclear Proteins/genetics, Pedigree, Pregnancy, Repressor Proteins/genetics, Siblings, Switzerland, KDM5B
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/34573379; info:eu-repo/semantics/altIdentifier/eissn/2073-4425; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_14ADEBC9C07B7; https://serval.unil.ch/notice/serval:BIB_14ADEBC9C07B; https://serval.unil.ch/resource/serval:BIB_14ADEBC9C07B.P001/REF.pdf
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11Academic Journal
المؤلفون: Datta, Alexandre N, Bahi-Buisson, Nadia, Bienvenu, Thierry, Buerki, Sarah E, Gardiner, Fiona, Cross, J Helen, Heron, Bénédicte, Kaminska, Anna, Korff, Christian, Lepine, Anne, Lesca, Gaetan, McTague, Amy, Mefford, Heather C, Mignot, Cyrill, Milh, Matthieu, Piton, Amélie, Pressler, Ronit M, Ruf, Susanne, Sadleir, Lynette G, de Saint Martin, Anne, Van Gassen, Koen, Verbeek, Nienke E, Ville, Dorothée, Villeneuve, Nathalie, Zacher, Pia, Scheffer, Ingrid E, Lemke, Johannes R
المصدر: ISSN: 0013-9580 ; Epilepsia, vol. 62, no. 2 (2021) p. 325-334.
مصطلحات موضوعية: info:eu-repo/classification/ddc/618, ALG13, West syndrome, Developmental and epileptic encephalopathy, Epileptic spasms, Adrenocorticotropic Hormone / therapeutic use, Anticonvulsants / therapeutic use, Child, Preschool, Developmental Disabilities / genetics, Developmental Disabilities / physiopathology, Diet, Ketogenic, Drug Resistant Epilepsy / genetics, Drug Resistant Epilepsy / physiopathology, Drug Resistant Epilepsy / therapy, Dyskinesias / genetics, Dyskinesias / physiopathology, Electroencephalography, Epileptic Syndromes / genetics, Epileptic Syndromes / physiopathology, Epileptic Syndromes / therapy, Female, Glucocorticoids / therapeutic use, Hormones / therapeutic use, Humans, Infant, Language Development Disorders / genetics, Language Development Disorders / physiopathology, Magnetic Resonance Imaging
Relation: info:eu-repo/semantics/altIdentifier/pmid/33410528; https://archive-ouverte.unige.ch/unige:170836; unige:170836
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12Academic Journal
المؤلفون: Goodman, Lindsey D, Cope, Heidi, Nil, Zelha, Ravenscroft, Thomas A, Charng, Wu-Lin, Lu, Shenzhao, Tien, An-Chi, Pfundt, Rolph, Koolen, David A, Haaxma, Charlotte A, Veenstra-Knol, Hermine E, Wassink-Ruiter, Jolien S, Wevers, Marijke R, Jones, Melissa, Walsh, Laurence E, Klee, Victoria H, Theunis, Miel, Legius, Eric, Steel, Dora, Barwick, Katy E, Kurian, Manju A, Mohammad, Shekeeb S, Dale, Russell C, Terhal, Paulien A, van Binsbergen, Ellen, Kirmse, Brian, Robinette, Bethany, Cogné, Benjamin, Isidor, Bertrand, Grebe, Theresa A, Kulch, Peggy, Hainline, Bryan E
المصدر: Translational Neuroscience
مصطلحات موضوعية: Drosophila, Importin-3, Karyopherin-β2b, TNPO1, TNPO2, Transportin, global developmental delays, intellectual disability, nucleocytoplasmic shuttling, rare disease, Alleles, Amino Acid Sequence, Animals, Developmental Disabilities (genetics, metabolism, pathology), Drosophila Proteins (antagonists & inhibitors, genetics, metabolism), Drosophila melanogaster (genetics, growth & development, Eye Diseases, Hereditary (genetics, Female, Gene Dosage, Gene Expression Regulation, Developmental, Genome, Human, Humans
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13Academic Journal
المساهمون: Instituto de Investigação e Inovação em Saúde
مصطلحات موضوعية: Adolescent, Adult, Child, Preschool, Chromosome Deletion, Chromosome Duplication, Chromosomes, Human, Pair 12 / genetics, Pair 9 / genetics, Developmental Disabilities/ genetics, Developmental Disabilities / pathology, Female, HMGA2 Protein / genetics, Humans, Infant, Interleukin-1 Receptor-Associated Kinases / genetics, Male, Methionine Sulfoxide Reductases / genetics
وصف الملف: application/pdf
Relation: BMC Medical Genomics, vol.13(1):2; https://bmcmedgenomics.biomedcentral.com/articles/10.1186/s12920-019-0653-x; https://hdl.handle.net/10216/141439
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14Academic Journal
المؤلفون: Gerrard, Dave T., Berry, Andrew, Jennings, Rachel, Birket, Matthew, Zarrineh, Peyman, Garstang, Myles, Withey, Sarah, Short, Patrick, Jiménez-Ganced, Sandra, Firbas, Panos N., Donaldson, Ian, Sharrocks, Andy, Piper Hanley, Karen, Hurles, Matthew E., Gomez-Skarmeta, Jose Luis, Bobola, Nicoletta, Hanley, Neil
المصدر: Gerrard , D T , Berry , A , Jennings , R , Birket , M , Zarrineh , P , Garstang , M , Withey , S , Short , P , Jiménez-Ganced , S , Firbas , P N , Donaldson , I , Sharrocks , A , Piper Hanley , K , Hurles , M E , Gomez-Skarmeta , J L , Bobola , N & Hanley , N 2020 , ' Dynamic changes in the epigenomic landscape regulate human organogenesis and link to developmental disorders ' , Nature Communications , vol. 11 , no. 1 ....
مصطلحات موضوعية: Animals, Genetically Modified, Databases, Genetic, Developmental Disabilities/genetics, Enhancer Elements, Epigenesis, Gene Expression Regulation, Developmental, Histone Code/genetics, Humans, Models, Mutation, Organogenesis/genetics, Promoter Regions, Tissue Distribution, Transcription Factors/metabolism, Zebrafish/embryology
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15Academic Journal
المؤلفون: Chawner, SJRA, Mihaljevic, M., Morrison, S., Eser, H.Y., Maillard, A.M., Nowakowska, B., van den Bree, MBM, Swillen, A.
المساهمون: MINDDS Consortium, Tatar, A., Harwood, A., Fortuna, A., Malousi, A., Swillen, A., Maillard, A.M., Şen, A., Nowakowska, B., Lozic, B., Izgi, B., Linden, D., Taruscio, D., Gothelf, D., Bora, E., Angelovska, E.S., Boot, E., Perçin, F., Degenhardt, F., Chiarenza, G., Cuturilo, G., Eser, H.Y., Aschauer, H., Siebner, H., Moss, H., Kayserili, H., Sønderby, I.E., Libiger, J., Karaer, K., Baker, K., Kendall, K., Gallagher, L., Raymond, L., Budisteanu, M., Janovic, M.B., Isrie, M., Martins, M., do Rosário Pinto Leite, M., van den Bree, M., Raleva, M., Mihaljevic, M., Alikasifoglu, M., Larsen, M., Diana, M., Paneque, M., Schloegelhofer, M., Oliva-Teles, N., Miljanovic, O., Jorge, P., Skiba, P., O'conaill, R., Smigiel, R., Stefanov, R., Chawner, S., Frkovic, S.H., Ciric, S., Medved, S., Bergen, S., Ceylaner, S., Rakic, S., Markovska-Simoska, S., Pušeljić, S., Morrison, S., Djurovic, S., van Amelsvoort, T., Cora, T., Peycheva, V., Koutkias, V., Saglam, Y., Kodra, Y., Celik, Z.Y.
المصدر: European journal of medical genetics, vol. 63, no. 12, pp. 104093
مصطلحات موضوعية: DNA Copy Number Variations, Databases, Genetic, Developmental Disabilities/diagnosis, Developmental Disabilities/genetics, Europe, Gene Frequency, Genetic Testing/methods, Genetic Testing/statistics & numerical data, Genome-Wide Association Study/methods, Genome-Wide Association Study/statistics & numerical data, Humans, Information Dissemination, Phenotype, Copy number variants, European, Medical genetics, Neurodevelopmental disorders, Psychiatric genetics, Research collaboration
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/33160096; info:eu-repo/semantics/altIdentifier/eissn/1878-0849; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_CAFE2CE910424; https://serval.unil.ch/notice/serval:BIB_CAFE2CE91042; https://serval.unil.ch/resource/serval:BIB_CAFE2CE91042.P001/REF.pdf
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16Academic Journal
المساهمون: John Hoon Rim, Jeong A Kim, Jongha Yoo, Rim, John Hoon
مصطلحات موضوعية: Child, Preschool, Chromosome Aberrations, Chromosome Banding, Chromosomes, Human, Pair 19/genetics, Comparative Genomic Hybridization, Developmental Disabilities/genetics, Gene Duplication, Gene Expression Regulation, Developmental, Genetic Association Studies, Humans, Male, Microcephaly/genetics, Trisomy, 19q13.32 duplication, array CGH, developmental delay
وصف الملف: application/pdf
Relation: YONSEI MEDICAL JOURNAL; J02813; OAK-9999-20652; https://ir.ymlib.yonsei.ac.kr/handle/22282913/166166; T999901455; YONSEI MEDICAL JOURNAL, Vol.58(6) : 1241-1244, 2017; 64793
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17Academic Journal
المؤلفون: Reggiani, C., Coppens, S., Sekhara, T., Dimov, I., Pichon, B., Lufin, N., Addor, M.C., Belligni, E.F., Digilio, M.C., Faletra, F., Ferrero, G.B., Gerard, M., Isidor, B., Joss, S., Niel-Bütschi, F., Perrone, M.D., Petit, F., Renieri, A., Romana, S., Topa, A., Vermeesch, J.R., Lenaerts, T., Casimir, G., Abramowicz, M., Bontempi, G., Vilain, C., Deconinck, N., Smits, G.
المصدر: Genome medicine, vol. 9, no. 1, pp. 67
مصطلحات موضوعية: Animals, Child, Developmental Disabilities/genetics, Developmental Disabilities/metabolism, Exons, Female, Guanylate Kinases/genetics, Humans, Intellectual Disability/genetics, Intellectual Disability/metabolism, Male, Membrane Proteins/genetics, Mice, Promoter Regions, Genetic, Tumor Suppressor Proteins/genetics, DLG2, Functional genomics, Intellectual disability, Neurodevelopmental disorders, Promoters
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/28724449; info:eu-repo/semantics/altIdentifier/eissn/1756-994X; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_EBFCA5108DAA6; https://serval.unil.ch/notice/serval:BIB_EBFCA5108DAA; https://serval.unil.ch/resource/serval:BIB_EBFCA5108DAA.P001/REF.pdf
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18Academic Journal
المؤلفون: Reggiani, Claudio, Coppens, Sandra, Sekhara, Tayeb, Dimov, Ivan, Pichon, Bruno, Lufin, Nicolas, Addor, Marie Claude, Belligni, Elga Fabia, Digilio, Maria Cristina, Faletra, Flavio, Ferrero, Giovanni Battista, Gerard, Marion, Isidor, Bertrand, Joss, Shelagh, Niel-Bütschi, Florence, Perrone, Maria Dolores, Petit, Florence, Renieri, Alessandra, Romana, Serge, Topa, Alexandra, Vermeesch, Joris Robert, Lenaerts, Tom, Casimir, Georges, Abramowicz, Marc, Bontempi, Gianluca, Vilain, Catheline, Deconinck, Nicolas, Smits, Guillaume
المصدر: Genome medicine, 9 (1
مصطلحات موضوعية: Sciences bio-médicales et agricoles, Animals, Child, Developmental Disabilities -- genetics -- metabolism, Exons, Female, Guanylate Kinases -- genetics, Humans, Intellectual Disability -- genetics -- metabolism, Male, Membrane Proteins -- genetics, Mice, Promoter Regions, Genetic, Tumor Suppressor Proteins -- genetics, DLG2, Functional genomics, Intellectual disability, Neurodevelopmental disorders, Promoters
وصف الملف: 1 full-text file(s): application/pdf
Relation: uri/info:doi/10.1186/s13073-017-0452-y; uri/info:pii/10.1186/s13073-017-0452-y; uri/info:pmid/28724449; uri/info:scp/85025079330; uri/info:pmcid/PMC5518101; https://dipot.ulb.ac.be/dspace/bitstream/2013/258564/1/doi_242191.pdf; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/258564
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19Academic Journal
المؤلفون: Rego, T, Gomez Lado, C, Cabanas Rodríguez, P, Sousa Santos, F, Barros Angueira, F, Castro-Feijóo, L, Barreiro Conde, J, Castro-Gago, M
مصطلحات موضوعية: HCC END, Humans, Child, Male, Developmental Disabilities / diagnosis, Developmental Disabilities / genetics, Dyskinesias / diagnosis, Dyskinesias / genetics, Intellectual Disability / diagnosis, Intellectual Disability / genetics, Mental Retardation, X-Linked / diagnosis, X-Linked / genetics, Monocarboxylic Acid Transporters / genetics, Muscle Hypotonia / diagnosis, Muscle Hypotonia / genetics, Muscular Atrophy / diagnosis, Muscular Atrophy / genetics, Mutation, Missense, Quadriplegia / diagnosis, Quadriplegia / genetics, Symporters, Thyrotoxicosis / diagnosis, Thyrotoxicosis / genetics
Relation: Hormones (Athens) . 2017 Apr;16(2):194-199.; http://hdl.handle.net/10400.17/4712
الاتاحة: http://hdl.handle.net/10400.17/4712
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20Academic Journal
المؤلفون: Cuinat, Silvestre, Nizon, Mathilde, Isidor, Bertrand, Stegmann, Alexander, van Jaarsveld, Richard H, van Gassen, Koen L, van der Smagt, Jasper J, Volker-Touw, Catharina M L, Holwerda, Sjoerd J B, Terhal, Paulien A, Schuhmann, Sarah, Vasileiou, Georgia, Khalifa, Mohamed, Nugud, Alaa A, Yasaei, Hemad, Ousager, Lilian Bomme, Andersen, Charlotte B., Deb, Wallid, Besnard, Thomas, Simon, Marleen E H, Amsterdam, Karin Huijsdens-van, Verbeek, Nienke E, Matalon, Dena, Dykzeul, Natalie, White, Shana, Spiteri, Elizabeth, Devriendt, Koen, Boogaerts, Anneleen, Willemsen, Marjolein, Brunner, Han G, Sinnema, Margje, De Vries, Bert B A, Gerkes, Erica H, Pfundt, Rolph, Izumi, Kosuke, Krantz, Ian D, Xu, Zhou L, Murrell, Jill R, Valenzuela, Irene, Cusco, Ivon, Rovira-Moreno, Eulàlia, Yang, Yaping, Bizaoui, Varoona, Patat, Olivier, Faivre, Laurence, Tran-Mau-Them, Frederic, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Philippe, Christophe, Bezieau, Stéphane, Cogné, Benjamin
المصدر: Cuinat , S , Nizon , M , Isidor , B , Stegmann , A , van Jaarsveld , R H , van Gassen , K L , van der Smagt , J J , Volker-Touw , C M L , Holwerda , S J B , Terhal , P A , Schuhmann , S , Vasileiou , G , Khalifa , M , Nugud , A A , Yasaei , H , Ousager , L B , Andersen , C B , Deb , W , Besnard , T , Simon , M E H , Amsterdam , ....
مصطلحات موضوعية: Child, Developmental Disabilities/genetics, Humans, Intellectual Disability/genetics, Muscle Hypotonia/genetics, Neurodevelopmental Disorders/genetics, Phenotype, RNA-Binding Proteins/genetics
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