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1Academic Journal
المؤلفون: Kratochwila, C., Pomar, L., Lebon, S., Gengler, C., Pavlidou, D.C., Good, J.M., Kumps, C., Sichitiu, J.
المصدر: Prenatal diagnosis, vol. 44, no. 12, pp. 1526-1529
مصطلحات موضوعية: Humans, Female, Pregnancy, DEAD-box RNA Helicases/genetics, Fetal Growth Retardation/genetics, Fetal Growth Retardation/diagnosis, Fetal Growth Retardation/diagnostic imaging, Adult, Ultrasonography, Prenatal, Exome Sequencing, Heterozygote, Microcephaly/genetics, Microcephaly/diagnosis, Microcephaly/diagnostic imaging, DNA Helicases/genetics, Abnormalities, Multiple/genetics, Multiple/diagnosis, Multiple/diagnostic imaging, Nervous System Malformations/genetics, Nervous System Malformations/diagnosis, Nervous System Malformations/diagnostic imaging, Prenatal Diagnosis/methods, DDX11, Warsaw Breakage Syndrome, cerebellar vermis hypoplasia, cohesinopathy, delayed sulcation, intrahepatic portal‐systemic shunt
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/39428552; info:eu-repo/semantics/altIdentifier/eissn/1097-0223; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_9F3C8D6CE7058; https://serval.unil.ch/notice/serval:BIB_9F3C8D6CE705; https://serval.unil.ch/resource/serval:BIB_9F3C8D6CE705.P001/REF.pdf
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2Academic Journal
المؤلفون: Vaclavik, V., Navarro, A., Jacot-Guillarmod, A., Bottani, A., Sun, Y.J., Franco, J.A., Mahajan, V.B., Smirnov, V., Bouvet-Drumare, I.
المصدر: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie, vol. 262, no. 6, pp. 1737-1744
مصطلحات موضوعية: Humans, Vestibular Diseases/genetics, Vestibular Diseases/diagnosis, Vestibular Diseases/physiopathology, Face/abnormalities, Hematologic Diseases/genetics, Hematologic Diseases/diagnosis, Hematologic Diseases/physiopathology, Tomography, Optical Coherence/methods, Abnormalities, Multiple/genetics, Multiple/diagnosis, Phenotype, Follow-Up Studies, Male, Female, Electroretinography, Neoplasm Proteins/genetics, Visual Acuity, Multimodal Imaging, Fluorescein Angiography/methods, DNA-Binding Proteins/genetics, Macular Degeneration/genetics, Macular Degeneration/diagnosis, Macular Degeneration/physiopathology, Neck, Fundus Oculi, DNA/genetics, Exome Sequencing
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/38206414; info:eu-repo/semantics/altIdentifier/eissn/1435-702X; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_A1C745767A8A5; https://serval.unil.ch/notice/serval:BIB_A1C745767A8A; https://serval.unil.ch/resource/serval:BIB_A1C745767A8A.P001/REF.pdf
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3Academic Journal
المؤلفون: Parata, G., Vial, Y., Addor, M.C., Pellegrinelli, J.M., Wildhaber, B.E.
المصدر: Pediatric surgery international, vol. 40, no. 1, pp. 136
مصطلحات موضوعية: Humans, Hernia, Umbilical/genetics, Retrospective Studies, Female, Pregnancy, Infant, Newborn, Abnormalities, Multiple/genetics, Syndrome, Male, Switzerland/epidemiology, Live Birth/genetics, Fetal Death/etiology, Registries, Anomalies, Classification, Defect, Omphalocele, Size
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/38780818; info:eu-repo/semantics/altIdentifier/eissn/1437-9813; https://serval.unil.ch/notice/serval:BIB_C11B3B5FE14F; https://serval.unil.ch/resource/serval:BIB_C11B3B5FE14F.P001/REF.pdf
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4Academic Journal
المصدر: Gazeta Médica; NUMBER 3 · VOLUME 11 · JULY/SEPTEMBER 2024; 248-252 ; Gazeta Médica; NÚMBERo 3 · VOLUME 11 · JULHO/STEMBRO 2024; 248-252 ; 2184-0628 ; 2183-8135 ; 10.29315/gm.v11i3
مصطلحات موضوعية: Abnormalities, Multiple/genetics, Cullin Proteins/genetics, Gene Deletion, Intellectual Disability/ genetics, Anomalias Múltiplas/genética, Deficiência Intelectual/genética, Deleção Genética, Proteínas Cullin/genética
وصف الملف: application/pdf
Relation: https://gazetamedica.pt/index.php/gazeta/article/view/802/496; https://gazetamedica.pt/index.php/gazeta/article/view/802
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5Academic Journal
المؤلفون: D'Abrusco, F., Serpieri, V., Taccagni, C.M., Garau, J., Cattaneo, L., Boggioni, M., Gana, S., Battini, R., Bertini, E., Zanni, G., Boltshauser, E., Borgatti, R., Romaniello, R., Signorini, S., Leuzzi, V., Caputi, C., Manti, F., D'Arrigo, S., De Laurentiis, A., Graziano, C., Lemke, J.R., Morelli, F., Petković Ramadža, D., Sirchia, F., Giorgio, E., Valente, E.M.
المصدر: European journal of human genetics, vol. 33, no. 1, pp. 72-79
مصطلحات موضوعية: Humans, Kidney Diseases, Cystic/genetics, Cystic/diagnosis, Abnormalities, Multiple/genetics, Multiple/diagnosis, Cerebellum/abnormalities, Cerebellum/pathology, Eye Abnormalities/genetics, Eye Abnormalities/diagnosis, DNA Copy Number Variations, Retina/abnormalities, Retina/pathology, Female, Male, Child, Exome Sequencing, RNA Splicing, Preschool, Mutation, Adolescent, Heterozygote, Infant, Exome/genetics, Cytoplasmic Dyneins/genetics, Cytoskeletal Proteins, Membrane Proteins, Cell Cycle Proteins
Relation: info:eu-repo/semantics/altIdentifier/pmid/39394465; info:eu-repo/semantics/altIdentifier/eissn/1476-5438; https://serval.unil.ch/notice/serval:BIB_0FE1AE2BBAEE
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6Academic Journal
المؤلفون: Manjón, Anna G, Manzo, Stefano Giustino, Prekovic, Stefan, Potgeter, Leon, van Schaik, Tom, Liu, Ning Qing, Flach, Koen, Peric-Hupkes, Daniel, Joosten, Stacey, Teunissen, Hans, Friskes, Anoek, Ilic, Mila, Hintzen, Dorine, Franceschini-Santos, Vinícius H, Zwart, Wilbert, de Wit, Elzo, van Steensel, Bas, Medema, René H
المساهمون: CMM Groep Prekovich, Cancer
مصطلحات موضوعية: Cell Line, Tumor, DNA Methylation/genetics, Drug Resistance, Multiple/genetics, Neoplasm/genetics, Humans, Neoplasms/genetics, Paclitaxel/pharmacology, chromatin, gene regulation, CP: Molecular biology, 3D genome, nuclear lamina, General Biochemistry,Genetics and Molecular Biology, Journal Article, Research Support, N.I.H., Extramural, Non-U.S. Gov't
وصف الملف: application/pdf
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7Academic Journal
المؤلفون: Lecca, M., Bedeschi, M.F., Izzi, C., Dordoni, C., Rinaldi, B., Peluso, F., Caraffi, S.G., Prefumo, F., Signorelli, M., Zanzucchi, M., Bione, S., Ghigna, C., Sassi, S., Novelli, A., Valente, E.M., Superti-Furga, A., Garavelli, L., Errichiello, E.
المصدر: Clinical genetics, vol. 104, no. 2, pp. 230-237
مصطلحات موضوعية: Humans, Infant, Newborn, Spine/abnormalities, Abnormalities, Multiple/genetics, Hernia, Diaphragmatic/genetics, Alleles, T-Box Domain Proteins/genetics, Membrane Proteins/genetics, Intracellular Signaling Peptides and Proteins/genetics, LFNG, exome sequencing, neonatal, notch signaling pathway, prenatal, respiratory distress, splicing, spondylocostal dysostosis
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/37038048; info:eu-repo/semantics/altIdentifier/eissn/1399-0004; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_9250F24900549; https://serval.unil.ch/notice/serval:BIB_9250F2490054; https://serval.unil.ch/resource/serval:BIB_9250F2490054.P001/REF.pdf
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8Academic JournalDNA methylation signature classification of rare disorders using publicly available methylation data
المؤلفون: Hildonen, Mathis, Ferilli, Marco, Hjortshøj, Tina Duelund, Dunø, Morten, Risom, Lotte, Bak, Mads, Ek, Jakob, Møller, Rikke S., Ciolfi, Andrea, Tartaglia, Marco, Tümer, Zeynep
المصدر: Hildonen , M , Ferilli , M , Hjortshøj , T D , Dunø , M , Risom , L , Bak , M , Ek , J , Møller , R S , Ciolfi , A , Tartaglia , M & Tümer , Z 2023 , ' DNA methylation signature classification of rare disorders using publicly available methylation data ' , Clinical Genetics , vol. 103 , no. 6 , pp. 688-692 . https://doi.org/10.1111/cge.14304
مصطلحات موضوعية: KMT2D, Kabuki syndrome, Mendelian disorders, VUS classification, epigenetics, episignature, rare disorders, Abnormalities, Multiple/genetics, DNA Methylation, Humans, Vestibular Diseases/genetics, Hematologic Diseases/genetics
وصف الملف: application/pdf
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9Academic Journal
المؤلفون: Justo Pereira, R, Gomes Pereira, A, Sá, J, Rosado da Silva, N
مصطلحات موضوعية: Abnormalities, Multiple/diagnosis, Multiple/genetics, Child, Craniofacial Abnormalities, Growth Disorders/diagnosis, Growth Disorders/genetics, Intellectual Disability/genetics, HDE NEU PED
Relation: Port J Pediatr 2023;54(2):136-7; http://hdl.handle.net/10400.17/4982
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10Academic Journal
المصدر: Orphanet Journal of Rare Diseases, 17 (1), 174 (2022-04-23)
مصطلحات موضوعية: Dysautonomia, Multidisciplinary care, Skeletal dysplasia, Stuve-Wiedemann syndrome, Child, Female, Humans, Pregnancy, Abnormalities, Multiple/genetics, Exostoses, Multiple Hereditary/genetics, Osteochondrodysplasias/genetics, Respiratory Insufficiency, Abnormalities, Multiple, Exostoses, Multiple Hereditary, Osteochondrodysplasias, Genetics (clinical), Pharmacology (medical), General Medicine, Human health sciences, Pediatrics, Orthopedics, rehabilitation & sports medicine, Life sciences, Genetics & genetic processes, Sciences de la santé humaine, Pédiatrie, Orthopédie, rééducation & médecine sportive, Sciences du vivant, Génétique & processus génétiques
Relation: https://link.springer.com/content/pdf/10.1186/s13023-022-02323-8.pdf; Clinical overview and outcome of the Stuve-Wiedemann syndrome: a systematic review.; urn:issn:1750-1172
URL الوصول: https://orbi.uliege.be/handle/2268/291205
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11Academic Journal
المؤلفون: Hendricks, Linda A J, Hoogerbrugge, Nicoline, Venselaar, Hanka, Aretz, Stefan, Spier, Isabel, Legius, Eric, Brems, Hilde, de Putter, Robin, Claes, Kathleen B M, Evans, D Gareth, Woodward, Emma R, Genuardi, Maurizio, Brugnoletti, Fulvia, van Ierland, Yvette, Dijke, Kim, Tham, Emma, Tesi, Bianca, Schuurs-Hoeijmakers, Janneke H M, Branchaud, Maud, Salvador, Hector, Jahn, Arne, Schnaiter, Simon, Anastasiadou, Violetta Christophidou, Brunet, Joan, Oliveira, Carla, Roht, Laura, Blatnik, Ana, Irmejs, Arvids, Mensenkamp, Arjen R, Vos, Janet R, Leter, Edward
المصدر: Hendricks , L A J , Hoogerbrugge , N , Venselaar , H , Aretz , S , Spier , I , Legius , E , Brems , H , de Putter , R , Claes , K B M , Evans , D G , Woodward , E R , Genuardi , M , Brugnoletti , F , van Ierland , Y , Dijke , K , Tham , E , Tesi , B , Schuurs-Hoeijmakers , J H M , Branchaud , M , Salvador , H , Jahn , A , Schnaiter , S , Anastasiadou ....
مصطلحات موضوعية: Humans, Hamartoma Syndrome, Multiple/genetics, Cohort Studies, Genetic Association Studies, PTEN Phosphohydrolase/genetics, Megalencephaly/genetics, Phenotype
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12Academic Journal
المؤلفون: Serpieri, V., D'Abrusco, F., Dempsey, J.C., Cheng, Y.H., Arrigoni, F., Baker, J., Battini, R., Bertini, E.S., Borgatti, R., Christman, A.K., Curry, C., D'Arrigo, S., Fluss, J., Freilinger, M., Gana, S., Ishak, G.E., Leuzzi, V., Loucks, H., Manti, F., Mendelsohn, N., Merlini, L., Miller, C.V., Muhammad, A., Nuovo, S., Romaniello, R., Schmidt, W., Signorini, S., Siliquini, S., Szczałuba, K., Vasco, G., Wilson, M., Zanni, G., Boltshauser, E., Doherty, D., Valente, E.M.
المساهمون: University of Washington Center for Mendelian Genomics (UW-CMG) group, Bamshad, M.J., Leal, S.M., Nickerson, D.A., Anderson, P., Bacus, T.J., Blue, E.E., Brower, K., Buckingham, K.J., Chong, J.X., Cornejo Sánchez, D., Davis, C.P., Davis, C.J., Frazar, C.D., Gomeztagle-Burgess, K., Gordon, W.W., Horike-Pyne, M., Hurless, J.R., Jarvik, G.P., Johanson, E., Kolar, J.T., Marvin, C.T., McGee, S., McGoldrick, D.J., Mekonnen, B., Nielsen, P.M., Patterson, K., Radhakrishnan, A., Richardson, M.A., Roote, G.T., Ryke, E.L., Schrauwen, I., Shively, K.M., Smith, J.D., Tackett, M., Wang, G., Weiss, J.M., Wheeler, M.M., Yi, Q., Zhang, X.
المصدر: Journal of medical genetics, vol. 59, no. 9, pp. 888-894
مصطلحات موضوعية: Abnormalities, Multiple/genetics, Cerebellar Ataxia/genetics, Cerebellum/abnormalities, Cerebellum/diagnostic imaging, Eye Abnormalities/genetics, Haploinsufficiency/genetics, Humans, Intellectual Disability/genetics, Kidney Diseases, Cystic/diagnosis, Cystic/genetics, Male, Phenotype, Repressor Proteins/genetics, Retina/abnormalities, and neonatal diseases and abnormalities, central nervous system diseases, cerebellar diseases, congenital, early diagnosis, genetic variation, hereditary
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/34675124; info:eu-repo/semantics/altIdentifier/eissn/1468-6244; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_7731D4F154299; https://serval.unil.ch/notice/serval:BIB_7731D4F15429; https://serval.unil.ch/resource/serval:BIB_7731D4F15429.P001/REF.pdf
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13Academic Journal
المؤلفون: Loberti, L., Bruno, L.P., Granata, S., Doddato, G., Resciniti, S., Fava, F., Carullo, M., Rahikkala, E., Jouret, G., Menke, L.A., Lederer, D., Vrielynck, P., Ryba, L., Brunetti-Pierri, N., Lasa-Aranzasti, A., Cueto-González, A.M., Trujillano, L., Valenzuela, I., Tizzano, E.F., Spinelli, A.M., Bruno, I., Currò, A., Stanzial, F., Benedicenti, F., Lopergolo, D., Santorelli, F.M., Aristidou, C., Tanteles, G.A., Maystadt, I., Tkemaladze, T., Reimand, T., Lokke, H., Õunap, K., Haanpää, M.K., Holubová, A., Zoubková, V., Schwarz, M., Žordania, R., Muru, K., Roht, L., Tihveräinen, A., Teek, R., Thomson, U., Atallah, I., Superti-Furga, A., Buoni, S., Canitano, R., Scandurra, V., Rossetti, A., Grosso, S., Battini, R., Baldassarri, M., Mencarelli, M.A., Rizzo, C.L., Bruttini, M., Mari, F., Ariani, F., Renieri, A., Pinto, A.M.
المصدر: Human molecular genetics, vol. 31, no. 24, pp. 4131-4142
مصطلحات موضوعية: Pregnancy, Female, Humans, Facies, Tooth Abnormalities/genetics, Bone Diseases, Developmental/genetics, Abnormalities, Multiple/genetics, Multiple/diagnosis, Intellectual Disability/genetics, Intellectual Disability/diagnosis, Comparative Genomic Hybridization, Repressor Proteins/genetics, Phenotype, Dwarfism/genetics, European People
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/35861666; info:eu-repo/semantics/altIdentifier/eissn/1460-2083; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_CD40BBEC41D30; https://serval.unil.ch/notice/serval:BIB_CD40BBEC41D3; https://serval.unil.ch/resource/serval:BIB_CD40BBEC41D3.P001/REF.pdf
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14Academic Journal
المؤلفون: Serpieri, Valentina, D'Abrusco, Fulvio, Dempsey, Jennifer C, Cheng, Yong-Han Hank, Arrigoni, Filippo, Baker, Janice, Battini, Roberta, Bertini, Enrico Silvio, Borgatti, Renato, Christman, Angela K, Curry, Cynthia, D'Arrigo, Stefano, Fluss, Joel Victor, Freilinger, Michael, Gana, Simone, Ishak, Gisele E, Leuzzi, Vincenzo, Loucks, Hailey, Manti, Filippo, Mendelsohn, Nancy, Merlini, Laura, Miller, Caitlin V, Muhammad, Ansar, Nuovo, Sara, Romaniello, Romina, Schmidt, Wolfgang, Signorini, Sabrina, Siliquini, Sabrina, Szczałuba, Krzysztof, Vasco, Gessica, Wilson, Meredith, Zanni, Ginevra, Boltshauser, Eugen, Doherty, Dan, Valente, Enza Maria, University of Washington Center for Mendelian Genomics (UW-CMG) group
المصدر: ISSN: 0022-2593 ; Journal of medical genetics, vol. 59, no. 9 (2022) p. 888-894.
مصطلحات موضوعية: info:eu-repo/classification/ddc/618, And neonatal diseases and abnormalities, Central nervous system diseases, Cerebellar diseases, Congenital, Early diagnosis, Genetic variation, Hereditary, Abnormalities, Multiple / genetics, Cerebellar Ataxia / genetics, Cerebellum / abnormalities, Cerebellum / diagnostic imaging, Eye Abnormalities / genetics, Haploinsufficiency / genetics, Humans, Intellectual Disability / genetics, Kidney Diseases, Cystic / diagnosis, Cystic / genetics, Male, Phenotype, Repressor Proteins / genetics, Retina / abnormalities
Relation: info:eu-repo/semantics/altIdentifier/pmid/34675124; https://archive-ouverte.unige.ch/unige:170894; unige:170894
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15Academic Journal
المؤلفون: Martinez, Guillaume, Coutton, Charles, Loeuillet, Corinne, Cazin, Caroline, Muroňová, Jana, Boguenet, Magalie, Lambert, Emeline, Dhellemmes, Magali, Chevalier, Geneviève, Hograindleur, Jean-Pascal, Vilpreux, Charline, Neirijnck, Yasmine, Kherraf, Zine-Eddine, Escoffier Breancon, Jessica, Nef, Serge, Ray, Pierre F, Arnoult, Christophe
المصدر: ISSN: 2050-084X ; eLife, vol. 11 (2022) e75373.
مصطلحات موضوعية: info:eu-repo/classification/ddc/576.5, MMAF, Cell biology, Heredity, Infertility, Mouse, Oligogenism, Sperm abnormalities, Abnormalities, Multiple / genetics, Asthenozoospermia / genetics, Humans, Male / genetics, Male, Multifactorial Inheritance, Mutation, Sperm Tail, Spermatozoa
Relation: info:eu-repo/semantics/altIdentifier/pmid/35451961; https://archive-ouverte.unige.ch/unige:163382; unige:163382
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16Academic Journal
المساهمون: Faculty of Medicine, Other departments, Clinical Laboratory Services, Diagnostics and Blood Bank
مصطلحات موضوعية: Lífefna- og sameindalíffræði, Abnormalities, Multiple, Craniofacial Abnormalities, Growth Disorders, Hypertrichosis, Intellectual Disability, Myeloid-Lymphoid Leukemia Protein, Myeloid-Lymphoid Leukemia Protein/genetics, Multiple/genetics, Hypertrichosis/genetics, Growth Disorders/genetics, Histone-Lysine N-Methyltransferase/genetics, Mutation, Missense, Protein Folding, Syndrome, Intellectual Disability/genetics, Animals, Protein Domains, Mice, Genetics (clinical), Genetics, Ecology, Evolution, Behavior and Systematics, Molecular Biology, Cancer Research
وصف الملف: e1010278
Relation: PLoS Genetics; 18(6); http://www.scopus.com/inward/record.url?scp=85133097120&partnerID=8YFLogxK; Reynisdóttir , T , Anderson , K J , Boukas , L & Björnsson , H T 2022 , ' Missense variants causing Wiedemann-Steiner syndrome preferentially occur in the KMT2A-CXXC domain and are accurately classified using AlphaFold2 ' , PLoS Genetics , vol. 18 , no. 6 , e1010278 , pp. e1010278 . https://doi.org/10.1371/journal.pgen.1010278; f58224a9-e1a8-41e9-aa67-9bd94e5866ab; 85133097120; https://hdl.handle.net/20.500.11815/3474
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17Academic Journal
المؤلفون: Motta, Marialetizia, Solman, Maja, Bonnard, Adeline A, Kuechler, Alma, Pantaleoni, Francesca, Priolo, Manuela, Chandramouli, Balasubramanian, Coppola, Simona, Pizzi, Simone, Zara, Erika, Ferilli, Marco, Kayserili, Hülya, Onesimo, Roberta, Leoni, Chiara, Brinkmann, Julia, Vial, Yoann, Kamphausen, Susanne B, Thomas-Teinturier, Cécile, Guimier, Anne, Cordeddu, Viviana, Mazzanti, Laura, Zampino, Giuseppe, Chillemi, Giovanni, Zenker, Martin, Cavé, Hélène, den Hertog, Jeroen, Tartaglia, Marco
المصدر: Motta , M , Solman , M , Bonnard , A A , Kuechler , A , Pantaleoni , F , Priolo , M , Chandramouli , B , Coppola , S , Pizzi , S , Zara , E , Ferilli , M , Kayserili , H , Onesimo , R , Leoni , C , Brinkmann , J , Vial , Y , Kamphausen , S B , Thomas-Teinturier , C , Guimier , A , Cordeddu , V , Mazzanti , L , Zampino , G , Chillemi , G , Zenker , M , Cavé ....
مصطلحات موضوعية: Abnormalities, Multiple/genetics, Humans, Intracellular Signaling Peptides and Proteins/genetics, Loose Anagen Hair Syndrome/genetics, Phenotype, ras Proteins/genetics
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18Academic Journal
المؤلفون: Pisan, Elise, De Luca, Chiara, Brancati, Francesco, Sanchez Russo, Rossana, Li, Dong, Bhoj, Elizabeth, Wenger, Tara, Marwaha, Ashish, Johnson, Nicole, Beneteau, Claire, Brischoux-Boucher, Elise, Houge, Gunnar, Paulsen, Julie, Hammer, Trine Bjørg, Ek, Jakob, Schweitzer, Daniela, Russell, Bianca E, Dutra-Clarke, Marina, Nelson, Stanley, Douine, Emilie D, Corona, Rosario I, Dudding, Tracy, Thomson, Hannah, Low, Karen, Belnap, Newell, Iascone, Maria, Priolo, Manuela, Carli, Diana, Mussa, Alessandro, Bijlsma, Emilia K, Kopp, Nathan, Jais, Jean-Philippe, Amiel, Jeanne, Gordon, Christopher T
المصدر: Pisan , E , De Luca , C , Brancati , F , Sanchez Russo , R , Li , D , Bhoj , E , Wenger , T , Marwaha , A , Johnson , N , Beneteau , C , Brischoux-Boucher , E , Houge , G , Paulsen , J , Hammer , T B , Ek , J , Schweitzer , D , Russell , B E , Dutra-Clarke , M , Nelson , S , Douine , E D , Corona , R I , Dudding , T , Thomson , H , Low ....
مصطلحات موضوعية: Humans, Intellectual Disability/genetics, Abnormalities, Multiple/genetics, Heart Defects, Congenital, Phenotype, Tumor Necrosis Factor Receptor-Associated Peptides and Proteins
Relation: https://research-information.bris.ac.uk/en/publications/33e91450-ac32-4581-af83-c6c9ddcd7408
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19Academic Journal
المؤلفون: Theile, Dirk, Wizgall, Pauline
المصدر: http://lobid.org/resources/99370679168606441#!, 394(8):1621-1632.
مصطلحات موضوعية: ATP-Binding Cassette Transporters/genetics [MeSH], Multidrug resistance, Humans [MeSH], Antineoplastic Agents/pharmacology [MeSH], Neoplasms/genetics [MeSH], Animals [MeSH], Induction, Selection, Drug Resistance, Multiple/genetics [MeSH], Neoplasms/drug therapy [MeSH], Neoplasm/genetics [MeSH], Review, P-glycoprotein, Pregnane-x-receptor, ATP-binding cassette transporters
Relation: https://repository.publisso.de/resource/frl:6447991; https://doi.org/10.1007/s00210-021-02112-3; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8298356/
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20Academic Journal
المؤلفون: Melo, Uirá Souto, Piard, Juliette, Fischer-Zirnsak, Björn, Klever, Marius-Konstantin, Schöpflin, Robert, Mensah, Martin Atta, Holtgrewe, Manuel, Arbez-Gindre, Francine, Martin, Alain, Guigue, Virginie, Gaillard, Dominique, Landais, Emilie, Roze, Virginie, Kremer, Valerie, Ramanah, Rajeev, Cabrol, Christelle, Harms, Frederike L., Kornak, Uwe, Spielmann, Malte, Mundlos, Stefan, Van Maldergem, Lionel
المصدر: http://lobid.org/resources/99370671251406441#!, 140(10):1459-1469.
مصطلحات موضوعية: Female [MeSH], Lung/abnormalities [MeSH], Organogenesis/genetics [MeSH], Adult [MeSH], Abnormalities, Multiple/genetics [MeSH], Fetus [MeSH], Humans [MeSH], Molecular Medicine, Evolution, Molecular [MeSH], Genome, Human [MeSH], Original Investigation, Male [MeSH], Metabolic Diseases, Lung Diseases/genetics [MeSH], Gene Function, Cadaver [MeSH], Lung/growth, Genetic Variation [MeSH], Pregnancy [MeSH], Lung/ultrastructure [MeSH], Human Genetics
Relation: https://repository.publisso.de/resource/frl:6446828; https://doi.org/10.1007/s00439-021-02344-6; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8460539/
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