المؤلفون: Mubungu, Gerrye, Makay, Prince, Lumaka Zola, Aimé, Mvuama, Nono, Tshika, Dahlie, Tady, Bruno-Paul, Biselele, Thérèse, Roelants, Mathieu, Tshilobo, Prosper Lukusa, Devriendt, Koenraad

المصدر: American Journal of Medical Genetics. Part A, 185 (2), 453 - 460 (2021-02)

مصطلحات موضوعية: NICU, congenital anomalies, newborns, survival, Abnormalities, Multiple/diagnosis, Abnormalities, Multiple/epidemiology, Abnormalities, Multiple/genetics, Democratic Republic of the Congo/epidemiology, Female, Hospitalization, Humans, Infant, Newborn, Infant, Newborn, Diseases/diagnosis, Infant, Newborn, Diseases/epidemiology, Infant, Newborn, Diseases/genetics, Male, Intensive Care Units, Neonatal, Abnormalities, Multiple, Democratic Republic of the Congo, Infant, Newborn, Diseases, Genetics, Genetics (clinical), Life sciences, Genetics & genetic processes, Human health sciences, Pediatrics, Sciences du vivant, Génétique & processus génétiques, Sciences de la santé humaine, Pédiatrie

Relation: https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61987; 10.1002/ajmg.a.61987; urn:issn:1552-4825; urn:issn:1552-4833

URL الوصول: https://orbi.uliege.be/handle/2268/296755

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المؤلفون: Castriota-Scanderbeg, Alessandro.

المساهمون: Dallapiccola, Bruno.

مصطلحات موضوعية: Bone and Bones -- abnormalities., Abnormalities, Multiple -- diagnosis., Abnormalities, Multiple -- radiography., Bone Diseases -- genetics., Bone and Bones -- radiography., Phenotype., Skeleton., Abnormalities, Human.

المساهمون: Cassidy, Suzanne B., Allanson, Judith E.

مصطلحات موضوعية: Genetic disorders., Genetic Diseases, Inborn -- diagnosis., Genetic Diseases, Inborn -- therapy., Abnormalities, Multiple -- diagnosis., Abnormalities, Multiple -- therapy.

المؤلفون: Bernard Dan, Jennifer S. Goldman, Christopher A. Walsh, William B. Dobyns, Nicolas Deconinck, Frederick Andermann, Annapurna Poduri, Javad Nadaf, Dina Amrom, Eva Andermann, Bruno Pichon

المساهمون: Rehabilitation Research, Physiotherapy, Human Physiology and Anatomy, Clinical sciences

المصدر: American Journal of Medical Genetics Part A. 179:2343-2356

مصطلحات موضوعية: Male, Abnormalities, Multiple/diagnosis, Adolescent, Malformations of Cortical Development/diagnosis, Locus (genetics), Biology, Intellectual Disability, Chromosome Duplication, Gene duplication, Genetics, medicine, Polymicrogyria, Humans, Genetics(clinical), Abnormalities, Multiple, Genetic Predisposition to Disease, Gene, Genetic Association Studies, Genetics (clinical), Comparative Genomic Hybridization, Cell morphogenesis, Intellectual Disability/diagnosis, Infant, Newborn, Brain, Computational Biology, Facies, Computational Biology/methods, Perisylvian polymicrogyria, medicine.disease, Magnetic Resonance Imaging, Malformations of Cortical Development, Phenotype, medicine.anatomical_structure, Cerebral cortex, Brain/abnormalities, Chromosomes, Human, Pair 2, Female, Morphogen

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::373574fd4dfef5092d126916692a4f33
https://doi.org/10.1002/ajmg.a.61342

المؤلفون: Winter, Robin M.

مصطلحات موضوعية: Abnormalities, Human -- Diagnosis., Genetic disorders -- Diagnosis., Syndromes -- Diagnosis., Abnormalities, Multiple -- diagnosis.

المؤلفون: Winter, Robin M.

المساهمون: Baraitser, Michael.

مصطلحات موضوعية: Abnormalities, Multiple -- diagnosis., Abnormalities, Human -- Diagnosis., Human genetics -- Dictionaries., Dictionaries.

المؤلفون: Lumaka, A, Cosemans, N, Lulebo Mampasi, A, Mubungu, G, Mvuama, N, Lubala, T, Mbuyi-Musanzayi, S, Breckpot, J, Holvoet, M, de Ravel, T, Van Buggenhout, G, Peeters, H, Donnai, D, Mutesa, L, Verloes, A, Lukusa Tshilobo, P, Devriendt, K

المساهمون: Faculty of Sciences and Bioengineering Sciences, Metajuridica, Faculty of Law and Criminology, Fundamental rights centre, Clinical sciences, Medical Genetics, Faculty of Engineering, Faculty of Medicine and Pharmacy

مصطلحات موضوعية: Adult, Male, Abnormalities, Multiple/diagnosis, Musculoskeletal Abnormalities/diagnosis, Adolescent, Child, preschool, European Continental Ancestry Group, Intellectual Disability/diagnosis, Infant, Craniofacial Abnormalities/diagnosis, Muscular Atrophy/diagnosis, Face/diagnostic imaging, Down Syndrome/diagnosis, Image Processing, Computer-Assisted, Humans, young adult, Female, Child, African Continental Ancestry Group

وصف الملف: Print-Electronic; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::1694321e6442ebd642ff76a049d1a24f
https://lirias.kuleuven.be/handle/123456789/560298

المؤلفون: Maria Rasmussen, Lone Sunde, Olav Bjørn Petersen, Charlotte Brasch-Andersen, Dea Svaneby, Jesper Graakjaer, Maria Kibaek, Else Marie Vestergaard, Yanko Petkov, Christina Fagerberg, Iben Bache

المصدر: Rasmussen, M, Vestergaard, E M, Graakjaer, J, Petkov, Y, Bache, I, Fagerberg, C, Kibæk, M, Svaneby, D, Petersen, O B, Brasch-Andersen, C & Sunde, L 2016, ' 17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature ', American Journal of Medical Genetics. Part A, vol. 170, no. 11, pp. 2934-2942 . https://doi.org/10.1002/ajmg.a.37848
Rasmussen, M, Vestergaard, E M, Graakjaer, J, Petkov, Y, Bache, I, Fagerberg, C, Kibaek, M, Svaneby, D, Petersen, O B, Brasch-Andersen, C & Sunde, L 2016, ' 17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature. ', American Journal of Medical Genetics. Part A, vol. 170, no. 11, pp. 2934-2942 . https://doi.org/10.1002/ajmg.a.37848

مصطلحات موضوعية: 0301 basic medicine, Pediatrics, Denmark, Inheritance Patterns, Chromosome Disorders, Disease, 030105 genetics & heredity, snp array, 0302 clinical medicine, chromosomal microarray, Gene duplication, Chromosome Duplication, Medicine, Registries, Child, Genetics (clinical), Comparative Genomic Hybridization, 030219 obstetrics & reproductive medicine, learning disability, Syndrome, HNF1B, Phenotype, Child, Preschool, Cohort, array cgh, Chromosome Deletion, SNP array, Adult, medicine.medical_specialty, Abnormalities, Multiple/diagnosis, kidney anomalies, Adolescent, Genetic counseling, Polymorphism, Single Nucleotide, 03 medical and health sciences, Young Adult, 17q12 deletion, Genetics, Humans, Abnormalities, Multiple, Strabismus, Chromosome Aberrations, business.industry, Chromosome Disorders/diagnosis, Infant, Newborn, Infant, Facies, medicine.disease, 17q12 duplication, prenatal diagnostics, Autism, business, genetic counselling, Chromosomes, Human, Pair 17

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3878ac84b948cb54ada11aa5f4b53d29
https://portal.findresearcher.sdu.dk/da/publications/71469516-a0e8-40fb-ac78-201d77bf51ff

المؤلفون: Leslie, Elizabeth J, Koboldt, Daniel C, Kang, C. J., Ma, L, Hecht, Jacqueline T, Wehby, George L, Christensen, Kaare, Czeizel, Andrew E, Deleyiannis, Frederic W-B, Fulton, R S, Wilson, R K, Beaty, Terri H, Schutte, Brian C., Murray, J C, Marazita, Mary L

المصدر: Leslie, E J, Koboldt, D C, Kang, C J, Ma, L, Hecht, J T, Wehby, G L, Christensen, K, Czeizel, A E, Deleyiannis, F W-B, Fulton, R S, Wilson, R K, Beaty, T H, Schutte, B C, Murray, J C & Marazita, M L 2016, ' IRF6 mutation screening in non-syndromic orofacial clefting : analysis of 1521 families ', Clinical Genetics, vol. 90, no. 1, pp. 28-34 . https://doi.org/10.1111/cge.12675

مصطلحات موضوعية: Adult, Asian Continental Ancestry Group, Male, Abnormalities, Multiple/diagnosis, Genotype, Interferon Regulatory Factors/genetics, Cleft Lip/diagnosis, DNA Mutational Analysis, European Continental Ancestry Group, Gene Expression, Cysts/diagnosis, Pedigree, Diagnosis, Differential, Phenotype, nervous system, Brain/abnormalities, Cleft Palate/diagnosis, Lip/abnormalities, Mutation, Humans, Female, Genetic Testing, Child, psychological phenomena and processes, Genome-Wide Association Study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3062::5432ad8e880bfe6bc03a8dfc85f7f8aa
https://portal.findresearcher.sdu.dk/da/publications/86d19273-e282-4cad-8ad2-7544b003dea2