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المؤلفون: Marco L. Leung, Whitney Woodhull, Carolina Uggenti, Shauna Schord, Raul Perez Mato, Diana P. Rodriguez, Margie Ream, Yanick J. Crow, Mari Mori
المصدر: Leung, M L, Woodhull, W, Uggenti, C, Schord, S, Mato, R P, Rodriguez, D P, Ream, M, Crow, Y J & Mori, M 2023, ' Molecular characterization of an intronic RNASEH2B variant in a patient with Aicardi-Goutières syndrome ', European journal of medical genetics, vol. 66, no. 4, pp. 104731 . https://doi.org/10.1016/j.ejmg.2023.104731
مصطلحات موضوعية: Autoimmune Diseases of the Nervous System/genetics, Mutation, Genetics, Humans, Exome, General Medicine, Nervous System Malformations/genetics, Genetics (clinical)
وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document
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2رسالة جامعية
المؤلفون: Persson, Ann-Sophie
مصطلحات موضوعية: Brain -- abnormalities, Nervous system malformations -- genetics, Potassium channels -- genetics, Epilepsy -- genetics, Mutation
URL الوصول: http://diss.kib.ki.se/2006/91-7140-601-8/
Degree: Diss. (sammanfattning) Stockholm : Karolinska institutet, 2006
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المؤلفون: D'Angelo, D., Lebon, S., Chen, Q., Martin-Brevet, S., Snyder, L. G., Hippolyte, L., Hanson, E., Maillard, A. M., Faucett, W. A., Mace, A., Pain, A., Bernier, R., Chawner, S. J. R. A., David, A., Andrieux, J., Aylward, E., Baujat, G., Caldeira, I., Conus, P., Ferrari, C., Forzano, F., Gerard, M., Goin-Kochel, R. P., Grant, E., Hunter, J. V., Isidor, B., Jacquette, A., Jonch, A. E., Keren, B., Lacombe, D., Le Caignec, C., Martin, C. L., Mannik, K., Metspalu, A., Mignot, C., Mukherjee, P., Owen, M. J., Passeggeri, M., Rooryck-Thambo, C., Rosenfeld, J. A., Spence, S. J., Steinman, K. J., Tjernagel, J., Van Haelst, M., Shen, Y., Draganski, B., Sherr, E. H., Ledbetter, D. H., van den Bree, M. B. M., Beckmann, J. S., Spiro, J. E., Reymond, A., Jacquemont, S., Chung, W. K., Knoers, N. V. A. M., Martinet, D., Belfiore, M., Cuvellier, J. -C., Devries, B., Delrue, M. -A., Doco-Fenzy, M., Lebel, R., Leheup, B., Lewis, S., Mencarelli, M. A., Minet, J. -C., Vincent-Delorme, C., Moerman, A., Mucciolo, M., Ounap, K., Rajcan-Separovic, E., Renieri, A., Sanlaville, D., Faas, B. H., Koolen, D. A., Vulto-Van Silfhout, A., de Leeuw, N., Rosanfeld, J. A., Filges, I., Achatz, E., Roetzer, K. M., Bonneau, D., Guichet, A., Lazaro, L., Plessis, G., Kroisel, P. M., Reis, A., Jonveaux, P., Chantot-Bastaraud, S., Rauch, A., Demeer, B., Nordgren, A., Labalme, A., Ferrarini, A., Ramelli, G. P., Guilmatre, A., Joly-Helas, G., Haize, S., Layet, V., Le Gallic, S., de Freminville, B., Touraine, R., Van Binsbergen, E., Mathieu-Dramard, M., Barth, M., Blaumeiser, B., Masurel, A., Cailler, P., Olivier-Faivre, L., Malacarne, M., Coutton, C., Dieterich, K., Satre, V., Wallgren-Pettersson, C., Tensgrom, C., Kaksonen, S., Duban-Bedu, B., Holder, M., Rossi, M., Gaillard, D., Bock, D., Bednarek, N., Guillin, O., Bizzarri, V., Flori, E., Silengo, M., Kooy, R. F., Aboura, A., Beri, M., Delobel, B., Drunat, S., Jaros, Z., Kolk, A., Reigo, A., Zufferey, F., Beckmann, N., Faravelli, F., Alupay, H., Aaronson, B., Ackerman, S., Ankenman, K., Anwar, A., Atwell, C., Bowe, A., Beaudet, A. L., Benedetti, M., Berg, J., Berman, J., Berry, L. N., Bibb, A. L., Blaskey, L., Brennan, J., Brewton, C. M., Buckner, R., Bukshpun, P., Burko, J., Cali, P., Cerban, B., Chang, Y., Cheong, M., Chow, V., Chu, Z., Chudnovskaya, D., Cornew, L., Dale, C., Dell, J., Dempsey, A. G., Deschamps, T., Earl, R., Edgar, J., Elgin, J., Endre, J., Evans, Y. L., Findlay, A., Fischbach, G. D., Fisk, C., Fregeau, B., Gaetz, B., Gaetz, L., Garza, S., Gerdts, J., Glenn, O., Gobuty, S. E., Golembski, R., Greenup, M., Heiken, K., Hines, K., Hinkley, L., Jackson, F. I., Jenkins, J., Jeremy, R. J., Johnson, K., Kanne, S. M., Kessler, S., Khan, S. Y., Ku, M., Kuschner, E., Laakman, A. L., Lam, P., Lasala, M. W., Lee, H., La, K., Levy, S., Lian, A., Llorens, A. V., Loftus, K., Luks, T. L., Marco, E. J., Martin, S., Martin, A. J., Marzano, G., Masson, C., Mcgovern, K. E., Keehn, R. M., Miller, D. T., Miller, F. K., Moss, T. J., Murray, R., Nagarajan, S. S., Nowell, K. P., Owen, J., Paal, A. M., Packer, A., Page, P. Z., Paul, B. M., Peters, A., Peterson, D., Poduri, A., Pojman, N. J., Porche, K., Proud, M. B., Qasmieh, S., Ramocki, M. B., Reilly, B., Roberts, T. P. L., Shaw, D., Sinha, T., Smith, B., Snow, A., Swarnakar, V., Thieu, T., Triantafallou, C., Vaughan, R., Wakahiro, M., Wallace, A., Ward, T., Wenegrat, J., Wolken, A.
المساهمون: Blaumeiser, Bettina, Kooy, Frank, Other departments, Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study, 16p11.2 European Consortium, Simons Variation in Individuals Project (VIP) Consortium, Knoers, VA., Martinet, D., Belfiore, M., Cuvellier, JC., de Vries, B., Delrue, MA., Doco-Fenzy, M., Lebel, R., Leheup, B., Lewis, S., Mencarelli, MA., Minet, JC., Vincent-Delorme, C., Moerman, A., Mucciolo, M., Ounap, K., Rajcan-Separovic, E., Renieri, A., Sanlaville, D., Faas, BH., Koolen, DA., Vulto-van Silfhout, A., de Leeuw, N., Rosenfeld, JA., Filges, I., Achatz, E., Roetzer, KM., Bonneau, D., Guichet, A., Lazaro, L., Plessis, G., Kroisel, PM., Reis, A., Jonveaux, P., Chantot-Bastaraud, S., Rauch, A., Demeer, B., Nordgren, A., Labalme, A., Ferrarini, A., Ramelli, GP., Guilmatre, A., Joly-Helas, G., Haize, S., Layet, V., Le Gallic, S., de Fréminville, B., Touraine, R., Van Binsbergen, E., Mathieu-Dramard, M., Barth, M., Blaumeiser, B., Masurel, A., Cailler, P., Olivier-Faivre, L., Malacarne, M., Coutton, C., Dieterich, K., Satre, V., Wallgren-Pettersson, C., Tensgrom, C., Kaksonen, S., Duban-Bedu, B., Holder, M., Rossi, M., Gaillard, D., Bock, D., Bednarek, N., Guillin, O., Bizzarri, V., Flori, E., Silengo, M., Kooy, RF., Aboura, A., Beri, M., Delobel, B., Drunat, S., Jaros, Z., Kolk, A., Reigo, A., Zufferey, F., Beckmann, N., Faravelli, F., Alupay, H., Aaronson, B., Ackerman, S., Ankenman, K., Anwar, A., Atwell, C., Bowe, A., Beaudet, AL., Benedetti, M., Berg, J., Berman, J., Berry, LN., Bibb, AL., Blaskey, L., Brennan, J., Brewton, CM., Buckner, R., Bukshpun, P., Burko, J., Cali, P., Cerban, B., Chang, Y., Cheong, M., Chow, V., Chu, Z., Chudnovskaya, D., Cornew, L., Dale, C., Dell, J., Dempsey, AG., Deschamps, T., Earl, R., Edgar, J., Elgin, J., Olson, JE., Evans, YL., Findlay, A., Fischbach, GD., Fisk, C., Fregeau, B., Gaetz, B., Gaetz, L., Garza, S., Gerdts, J., Glenn, O., Gobuty, SE., Golembski, R., Greenup, M., Heiken, K., Hines, K., Hinkley, L., Jackson, FI., Jenkins J.
3rd , Jeremy, RJ., Johnson, K., Kanne, SM., Kessler, S., Khan, SY., Ku, M., Kuschner, E., Laakman, AL., Lam, P., Lasala, MW., Lee, H., LaGuerre, K., Levy, S., Lian Cavanagh, A., Llorens, AV., Loftus Campe, K., Luks, TL., Marco, EJ., Martin, S., Martin, AJ., Marzano, G., Masson, C., McGovern, KE., McNally Keehn, R., Miller, DT., Miller, FK., Moss, TJ., Murray, R., Nagarajan, SS., Nowell, KP., Owen, J., Paal, AM., Packer, A., Page, PZ., Paul, BM., Peters, A., Peterson, D., Poduri, A., Pojman, NJ., Porche, K., Proud, MB., Qasmieh, S., Ramocki, MB., Reilly, B., Roberts, TP., Shaw, D., Sinha, T., Smith-Packard, B., Snow Gallagher, A., Swarnakar, V., Thieu, T., Triantafallou, C., Vaughan, R., Wakahiro, M., Wallace, A., Ward, T., Wenegrat, J., Wolken, A., Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D)المصدر: JAMA psychiatry
Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study 2016, ' Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities ', JAMA Psychiatry, vol. 73, no. 1, pp. 20-30 . https://doi.org/10.1001/jamapsychiatry.2015.2123
JAMA PSYCHIATRY
JAMA psychiatry, 73(1), 20-30. American Medical Association
JAMA Psychiatry, 73, 1, pp. 20-30
JAMA Psychiatry
Jama Psychiatry, vol. 73, no. 1, pp. 20-30
JAMA Psychiatry, 73(1), 20. American Medical Association
JAMA Psychiatry, 73(1), 20-30. American Medical Association
JAMA Psychiatry, 73, 20-30مصطلحات موضوعية: Male, 0301 basic medicine, Proband, Pediatrics, Autism Spectrum Disorder, Developmental Disabilities, Chromosome Disorders, Comorbidity, Nonverbal learning disorder, Cohort Studies, Cognition, 0302 clinical medicine, Cerebellum, Chromosome Duplication, Gene duplication, Copy-number variation, Non-U.S. Gov't, Child, 2. Zero hunger, Intelligence quotient, Research Support, Non-U.S. Gov't, Middle Aged, Psychiatry and Mental health, Microcephaly, Female, Schizophrenic Psychology, Chromosome Deletion, Psychology, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Human, Adult, medicine.medical_specialty, Adolescent, DNA Copy Number Variations, Research Support, Nervous System Malformations, Article, Chromosomes, Young Adult, 03 medical and health sciences, Intellectual Disability, Journal Article, medicine, Humans, Autistic Disorder, Preschool, Psychiatry, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Epilepsy, Pair 16, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Case-control study, Autism Spectrum Disorder/epidemiology, Autism Spectrum Disorder/genetics, Autistic Disorder/epidemiology, Autistic Disorder/genetics, Case-Control Studies, Cerebellum/abnormalities, Child, Preschool, Chromosome Disorders/epidemiology, Chromosome Disorders/genetics, Chromosomes, Human, Pair 16/genetics, Developmental Disabilities/epidemiology, Developmental Disabilities/genetics, Epilepsy/epidemiology, Epilepsy/genetics, Intellectual Disability/epidemiology, Intellectual Disability/genetics, Microcephaly/epidemiology, Microcephaly/genetics, Nervous System Malformations/epidemiology, Nervous System Malformations/genetics, Schizophrenia/epidemiology, Schizophrenia/genetics, medicine.disease, 030104 developmental biology, Chromosomes, Human, Pair 16, Schizophrenia, Autism, Human medicine, 030217 neurology & neurosurgery
وصف الملف: image/pdf; pdf; application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::221714038bda1846e56d6e2e8e45f87a
http://archpsyc.jamanetwork.com/article.aspx?articleid=2471269 -
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المؤلفون: Charlotte Möller, Gregory J. Buchan, Francisco J. Schopfer, Rachel E. Rigby, Hiroyuki Arai, Jonathan J. Miner, Wei Qian, Anne L. Thielke, Camilla Gunderstofte, Martin R. Jakobsen, Jan Rehwinkel, Jessica Roos, Mona Motwani, Sonia R. Salvatore, Katherine A. Fitzgerald, Marie B. Iversen, Rongtuan Lin, Raphaela Goldbach-Mansky, Christian K. Holm, Michael Rühl, Kojiro Mukai, Thorsten J. Maier, Tomohiko Taguchi, Cathrine A. Miner, Andreas S. Jakobsen, Anne-Louise S. Hansen, Emari Ogawa, David Olagnier, Sidsel D. Andersen
المصدر: Hansen, A L, Buchan, G J, Rühl, M, Mukai, K, Salvatore, S R, Ogawa, E, Andersen, S D, Iversen, M B, Thielke, A L, Gunderstofte, C, Motwani, M, Møller, C T, Jakobsen, A S, Fitzgerald, K A, Roos, J, Lin, R, Maier, T J, Goldbach-Mansky, R, Miner, C A, Qian, W, Miner, J J, Rigby, R E, Rehwinkel, J, Jakobsen, M R, Arai, H, Taguchi, T, Schopfer, F J, Olagnier, D & Holm, C K 2018, ' Nitro-fatty acids are formed in response to virus infection and are potent inhibitors of STING palmitoylation and signaling ', Proceedings of the National Academy of Sciences of the United States of America, vol. 115, no. 33, pp. E7768-E7775 . https://doi.org/10.1073/pnas.1806239115
Proceedings of the National Academy of Sciences of the United States of Americaمصطلحات موضوعية: 0301 basic medicine, Autoimmune Diseases of the Nervous System/genetics, Herpesvirus 2, Human, medicine.disease_cause, Mice, chemistry.chemical_compound, Immunology and Inflammation, Interferon Type I/genetics, Lupus Erythematosus, Systemic, palmitoylation, nitro-fatty acids, Mice, Knockout, Mutation, Multidisciplinary, Chemistry, Fatty Acids, Biological Sciences, Lupus Erythematosus, Systemic/genetics, 3. Good health, Herpes Simplex/genetics, Fatty Acids/metabolism, PNAS Plus, Interferon Type I, Nervous System Malformations/genetics, Signal Transduction, Lipoylation, Herpesvirus 2, Human/metabolism, Nervous System Malformations, IFN, Virus, 03 medical and health sciences, Autoimmune Diseases of the Nervous System, Palmitoylation, medicine, Animals, Humans, ddc:610, Membrane Proteins/genetics, Gene, Membrane Proteins, Herpes Simplex, eye diseases, Sting, Cytosol, SAVI, RAW 264.7 Cells, 030104 developmental biology, Immunology, Nitro, DNA, STING
وصف الملف: application/pdf; application/octet-stream
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc7de5e98d88f9543f4ef4e8fec446d2
https://doi.org/10.1073/pnas.1806239115 -
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المصدر: Sze, A, Olagnier, D, Lin, R, van Grevenynghe, J & Hiscott, J 2013, ' SAMHD1 host restriction factor : a link with innate immune sensing of retrovirus infection ', Journal of Molecular Biology, vol. 425, no. 24, pp. 4981-94 . https://doi.org/10.1016/j.jmb.2013.10.022
مصطلحات موضوعية: Autoimmune Diseases of the Nervous System/genetics, Virus Replication/immunology, HIV Infections, Plasmacytoid dendritic cell, Biology, Retroviridae/immunology, Nervous System Malformations, Virus Replication, SAM Domain and HD Domain-Containing Protein 1, HIV Infections/immunology, Structure-Activity Relationship, Viral Proteins, Autoimmune Diseases of the Nervous System, Immune system, Retrovirus, Viral life cycle, HIV-1/immunology, Structural Biology, Immunity, Innate/immunology, Retroviridae Infections/immunology, Humans, Viral Regulatory and Accessory Proteins, Monomeric GTP-Binding Proteins/chemistry, Molecular Biology, Monomeric GTP-Binding Proteins, Gene Expression Regulation/immunology, Innate immune system, HIV-2/immunology, Models, Immunological, Viral Regulatory and Accessory Proteins/genetics, DNA, Viral/genetics, biology.organism_classification, Virology, Immunity, Innate, Reverse transcriptase, Retroviridae, Gene Expression Regulation, Viral Proteins/genetics, DNA, Viral, HIV-2, Host-Pathogen Interactions, HIV-1, Nervous System Malformations/genetics, Sterile alpha motif, Retroviridae Infections, Signal Transduction, SAMHD1
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المؤلفون: Enerly, Espen, Larsson, Jan, Lambertsson, Andrew
المصدر: Gene. 320:41-8
مصطلحات موضوعية: Abnormalities, Multiple/*genetics, Animals, Crosses, Genetic, Drosophila/*genetics/growth & development, Eye/innervation/metabolism/ultrastructure, Eye Abnormalities/genetics, Female, Gene Expression Regulation, Developmental, Genes, Lethal/genetics, Male, Microscopy, Electron, Scanning, Mutation, Nervous System Malformations/genetics, Phenotype, RNA Interference, Ribosomal Proteins/*genetics
وصف الملف: print
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المؤلفون: Anouk, Dansault, Gabriel, David, Claire, Schwartz, Carolina, Jaliffa, Véronique, Vieira, Guillaume, de la Houssaye, Karine, Bigot, Françise, Catin, Laurent, Tattu, Catherine, Chopin, Philippe, Halimi, Olivier, Roche, Nicole, Van Regemorter, Francis, Munier, Daniel, Schorderet, Jean-Louis, Dufier, Cécile, Marsac, Daniel, Ricquier, Maurice, Menasche, Alfred, Penfornis, Marc, Abitbol
المصدر: Molecular Vision, vol. 13, pp. 511-23
Molecular Visionمصطلحات موضوعية: Adult, Adolescent, PAX6 Transcription Factor, Nervous System Malformations, Cataract, Anterior Eye Segment, Humans, Microphthalmos, Paired Box Transcription Factors, Abnormalities, Multiple, Eye Abnormalities, Child, Eye Proteins, Abnormalities, Multiple/genetics Adolescent Adult Aged Aniridia/genetics Anterior Eye Segment/abnormalities Cataract/complications/genetics Child Child, Preschool Eye Abnormalities/*genetics Eye Proteins/*genetics Homeodomain Proteins/*genetics Humans Infant Infant, Newborn Microphthalmos/complications/genetics Middle Aged *Mutation Nervous System Malformations/*genetics Nystagmus, Congenital/complications/genetics Paired Box Transcription Factors/*genetics Phenotype Repressor Proteins/*genetics, Aniridia, Aged, Homeodomain Proteins, Infant, Newborn, Infant, Middle Aged, eye diseases, Repressor Proteins, Phenotype, Child, Preschool, Mutation, sense organs, Nystagmus, Congenital, Research Article
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::8887ee0829c9dbe37810c38f2ffe479b
https://serval.unil.ch/notice/serval:BIB_D53EE0A856A7 -
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المؤلفون: Fabiola Quintero-Rivera, Heather L. Ferguson, Alan L. Shanske, Koenraad Devriendt, Yanli Fan, Diana J. Donovan, Anne W. Higgins, Qinggang Li, Ayesha Ahmad, James F. Gusella, Weining Lu, Cynthia C. Morton, Azra H. Ligon, Chantal Kelly, Fowzan S. Alkuraya, Roxana Peters, Elliott H. Sherr, Annick Turbe-Doan, Richard L. Maas, Bradley J. Quade, Alexander G. Bassuk, Richard M. Gronostajski, Craig Campbell, David J. Harris, Paloma Maria Parvex, Bénédict Rilliet, Christopher A. Walsh, Qiongchao Xi
المصدر: PLOS Genetics, Vol. 3, No 5 (2007) P. e80
PLoS Genetics, Vol 3, Iss 5, p e80 (2007)
PLoS Geneticsمصطلحات موضوعية: Male, Cancer Research, Pathology, Haploidy, Kidney, Corpus callosum, Mice, 0302 clinical medicine, Spinal Cord/metabolism, Homo (Human), Abnormalities, Multiple/genetics, Agenesis of the corpus callosum, Child, Genetics (clinical), Genetics, Gene Rearrangement, 0303 health sciences, ddc:618, Gene Expression Regulation, Developmental, Syndrome, Mus (Mouse), Penetrance, 3. Good health, Embryo, Mammalian/metabolism, Phenotype, Spinal Cord, Chromosomes, Human, Pair 1/genetics, Nephrology, Chromosomes, Human, Pair 1, NFIA, NFI Transcription Factors/genetics/metabolism, Child, Preschool, Female, Ureter/abnormalities/embryology/metabolism/pathology, Haploinsufficiency, Nervous System Malformations/genetics, Research Article, medicine.medical_specialty, lcsh:QH426-470, Mutation/genetics, Kidney/abnormalities/embryology/metabolism, Urology, Biology, Nervous System Malformations, Neurological Disorders, 03 medical and health sciences, medicine, Animals, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Molecular Biology, Ecology, Evolution, Behavior and Systematics, 030304 developmental biology, Kidney metabolism, Infant, Genetics and Genomics, Gene rearrangement, Embryo, Mammalian, medicine.disease, ddc:616.8, NFI Transcription Factors, lcsh:Genetics, Urogenital Abnormalities/genetics, Urogenital Abnormalities, Mutation, Ureter, 030217 neurology & neurosurgery, Developmental Biology, Neuroscience, Ventriculomegaly
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9مورد إلكتروني
المصدر: Lancet neurology, 12 (12
مصطلحات الفهرس: Sciences bio-médicales et agricoles, Génétique clinique, Génétique moléculaire, Adenosine Deaminase -- genetics, Adolescent, Adult, Autoantibodies -- blood, Autoimmune Diseases of the Nervous System -- genetics -- metabolism, Biomarkers, Case-Control Studies, Child, Child, Preschool, Exodeoxyribonucleases -- genetics, Female, Gene Expression Regulation, Genetic Heterogeneity, Genotype, Humans, Infant, Interferon Type I -- blood -- cerebrospinal fluid -- immunology -- physiology, Male, Monomeric GTP-Binding Proteins -- genetics, Mutation, Nervous System Malformations -- genetics -- metabolism, Neutralization Tests, Phosphoproteins -- genetics, Prospective Studies, RNA, Messenger -- biosynthesis, RNA-Binding Proteins, Ribonuclease H -- genetics, SAM Domain and HD Domain-Containing Protein 1, Up-Regulation, Young Adult, info:eu-repo/semantics/article, info:ulb-repo/semantics/articlePeerReview, info:ulb-repo/semantics/openurl/article
URL:
https://dipot.ulb.ac.be/dspace/bitstream/2013/287256/4/elsevier_270883.pdf http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/287256 http://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLL -
10مورد إلكتروني
مصطلحات الفهرس: Codon, Nonsense, Abnormalities, Multiple, Base Sequence, Chromosomes, Human, Pair 10, Consanguinity, Enteric Nervous System/*abnormalities, Female, Hirschsprung Disease/genetics, Humans, Male, Mental Retardation/genetics, Nerve Tissue Proteins, Nervous System Malformations/*genetics, Pedigree, Research Support, Non-U.S. Gov't, Syndrome, info:eu-repo/semantics/article