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1
المؤلفون: Qiong Su, Xiang-Mei Zhang, Cheng-Shuang Huang, Fan Yang, Hongmei Murong, Ping Zhu, Xi Luo, Jindong Chen, Yan Chen, Liu-Song Wu, Yuhang Yang, Xiaosong Zhong, Run-Mei Tian, Mei Tan, Libo Zheng, Yue Bai, Jing Xia, Jian Sun
المصدر: Clinical Genetics. 99:704-712
مصطلحات موضوعية: Male, 0301 basic medicine, China, Heterozygote, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Genetic counseling, Thalassemia, Early detection, 030105 genetics & heredity, Polymerase Chain Reaction, Monogenic disease, 03 medical and health sciences, alpha-Globins, alpha-Thalassemia, hemic and lymphatic diseases, Genotype, Prevalence, Genetics, medicine, Humans, Genetic Testing, Genetics (clinical), Genetic testing, medicine.diagnostic_test, business.industry, beta-Thalassemia, Infant, Newborn, High-Throughput Nucleotide Sequencing, medicine.disease, Carrier rate, 030104 developmental biology, Clinical diagnosis, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c585905695bb190aa0ac70d02b5a8a6Test
https://doi.org/10.1111/cge.13923Test -
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المؤلفون: Early Pro-Tect Alport Investigators, Tim Friede, Michaela Gessner, Peter F. Hoyer, Henry Fehrenbach, Rasmus Ehren, Jutta Gellermann, Ulrike John, M Pohl, Baerbel Lange-Sperandio, Matthias Galiano, Carsten Bergmann, Bernd Hoppe, Lars Pape, Burkhard Tönshoff, Oliver Gross, Hagen Staude, Matthias Kettwig, Julia Hoefele, Kay Latta, Martin Konrad, Jan Boeckhaus, Korbinian M. Riedhammer
المصدر: Clinical Genetics. 99:143-156
مصطلحات موضوعية: Collagen Type IV, Male, 0301 basic medicine, medicine.medical_specialty, Adolescent, Medizin, Nephritis, Hereditary, macromolecular substances, 030105 genetics & heredity, Kidney, Early initiation, Genotype phenotype, Correlation, 03 medical and health sciences, Genes, X-Linked, Internal medicine, Genetics, Humans, Medicine, ddc:610, Genetic Testing, Renal Insufficiency, Alport syndrome, Child, Genetic Association Studies, Genetics (clinical), Genetic testing, medicine.diagnostic_test, business.industry, Infant, medicine.disease, Phenotype, ddc, 3. Good health, Early Diagnosis, 030104 developmental biology, Sample size determination, Child, Preschool, Cohort, Female, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0f8df17b9fb11713c8d221d6de343d4Test
https://doi.org/10.1111/cge.13861Test -
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المؤلفون: Isabelle Vandernoot, Vanessa Wermenbol, Gilles Naeije, Gauthier Remiche, Laurence Desmyter, Marta Lamartine S. Monteiro
المصدر: Clinical Genetics. 98:416-417
مصطلحات موضوعية: Male, musculoskeletal diseases, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Adolescent, Hereditary spastic paraplegia, 030105 genetics & heredity, Corpus callosum, Corpus Callosum, 03 medical and health sciences, Tubulin, Genetics, medicine, Humans, Genetic Predisposition to Disease, Child, Genetic Association Studies, Genetics (clinical), medicine.diagnostic_test, Spastic Paraplegia, Hereditary, business.industry, Siblings, Magnetic resonance imaging, musculoskeletal system, medicine.disease, Magnetic Resonance Imaging, nervous system diseases, 030104 developmental biology, nervous system, Child, Preschool, Mutation, Mutation (genetic algorithm), Autosomal Dominant Hereditary Spastic Paraplegia, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6564133d5131bdbd86ab28a9df6eaa5Test
https://doi.org/10.1111/cge.13809Test -
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المؤلفون: Ira Shoulson, Elise Kayson-Rubin, Shirley Eberly, Kimberly A. Quaid, David Oakes
المصدر: Clinical Genetics. 91:824-831
مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Chorea, Disease, 030105 genetics & heredity, nervous system diseases, 03 medical and health sciences, 0302 clinical medicine, mental disorders, Cohort, Genetics, medicine, Huntingtin Protein, Observational study, Apathy, medicine.symptom, business, 030217 neurology & neurosurgery, Genetics (clinical), Depression (differential diagnoses), Genetic testing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a47e1b583660d584172c8fc7d05cd5d8Test
https://doi.org/10.1111/cge.12893Test -
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المؤلفون: Meghan Caldwell, Cristi Radford, Jill S. Dolinsky, Deborah Cragun, Tuya Pal, Elizabeth C. Chao
المصدر: Clinical Genetics
مصطلحات موضوعية: Male, Heterozygote, medicine.medical_specialty, Colorectal cancer, Context (language use), multiplex genetic testing, Bioinformatics, DNA Glycosylases, MUTYH, Internal medicine, Cancer screening, Genetics, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Family history, CHEK2, variants of unknown significance, Genetics (clinical), hereditary cancer syndromes, Genetic testing, next generation sequencing, medicine.diagnostic_test, business.industry, High-Throughput Nucleotide Sequencing, Original Articles, ColoNext, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, United States, 3. Good health, Checkpoint Kinase 2, Mutation, Medical genetics, Female, Colorectal Neoplasms, business, clinical genetics
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b98af3f8861548ecf7e9009b8683510aTest
https://doi.org/10.1111/cge.12359Test -
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المؤلفون: Stéphane Kremer, N. Goetz, Sébastien Molière, Hélène Dollfus, Sophie Riehm, Vincent Noblet, Vincent Marion, Jean Muller, J.-J. Braun
المصدر: Clinical Genetics. 90:79-83
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Anosmia, Magnetic resonance imaging, Olfaction, medicine.disease, Dysosmia, Olfactory bulb, Peripheral, 03 medical and health sciences, 0302 clinical medicine, Bardet–Biedl syndrome, Genetics, Medicine, Radiology, medicine.symptom, 030223 otorhinolaryngology, business, Normal control, 030217 neurology & neurosurgery, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e3e58ff7ed54afae1d6cbb56f2bc4c7bTest
https://doi.org/10.1111/cge.12697Test -
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المؤلفون: M.J. Guillen Sacoto, Kyle Retterer, Rashmi Chikarmane, Berivan Baskin, Barbara K. Burton, Emma Bedoukian, S Hopkins, Brooke E. Spangler, Heather M. McLaughlin, Wendy K. Chung, Fran Kendall, Matthew A. Deardorff, David Kronn, M. T. Cho, Marie T. McDonald, Rebecca Willaert, N Oundjian, D Stern, Ingrid M. Wentzensen, Anne Slavotinek, Dianalee McKnight, Allyn McConkie-Rosell, S Schrier Vergano, Katherine H. Kim, N Chandy
المصدر: Clinical Genetics. 92:221-223
مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Electroencephalography, behavioral disciplines and activities, 03 medical and health sciences, Internal medicine, mental disorders, Intellectual disability, Genetics, medicine, Attention deficit hyperactivity disorder, Missense mutation, cardiovascular diseases, Association (psychology), Genetics (clinical), medicine.diagnostic_test, business.industry, Fontanelle, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, Cardiology, Patent foramen ovale, business, psychological phenomena and processes, Patent ductus arteriosis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::581ee86a91c3e5561960d11be6b0ecf1Test
https://doi.org/10.1111/cge.12956Test -
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المؤلفون: Sinan Dheyauldeen, Olaug K. Rødningen, Ketil Heimdal, Mari Ann Kulseth, T. Røysland, R. Andersen, Bjørn Dalhus, M. Kroken, Kristin Eiklid
المصدر: Clinical Genetics. 89:182-186
مصطلحات موضوعية: 0301 basic medicine, Activin Receptors, Type II, media_common.quotation_subject, DNA Mutational Analysis, Nonsense, Mucocutaneous zone, Receptors, Cell Surface, Biology, medicine.disease_cause, Frameshift mutation, Cohort Studies, 03 medical and health sciences, Antigens, CD, Genetics, medicine, Humans, Missense mutation, Family, Genetics (clinical), Genetic testing, media_common, Mutation, medicine.diagnostic_test, Norway, Endoglin, ACVRL1, Founder Effect, 030104 developmental biology, Telangiectasia, Hereditary Hemorrhagic, Founder effect
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f866085b6ba355ff15af7b4efb6fac0fTest
https://doi.org/10.1111/cge.12612Test -
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المؤلفون: Giovanni Ponti, Cristel Ruini, Antonio Percesepe, Aldo Tomasi, E. Castellsagué
المصدر: Clinical Genetics. 87:507-516
مصطلحات موضوعية: Genetics, congenital, hereditary, and neonatal diseases and abnormalities, education.field_of_study, medicine.diagnostic_test, Population, Biology, Gene mutation, MLH1, medicine.disease, digestive system diseases, Lynch syndrome, MSH6, MSH2, medicine, PMS2, education, Genetics (clinical), Genetic testing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::935207a3079a69728782f8387f55dc94Test
https://doi.org/10.1111/cge.12529Test -
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المؤلفون: Zohar Levi, Revital Kariv, Irit Solar, Tamar Peretz, Naama Halpern, Guy Rosner, Yael Goldberg, Hanoch Goldshmidt, Luna Kadouri, Hagit N. Baris, M. Plesser, Israela Lerer, Inbal Barnes-Kedar, Ayala Hubert, Hana Strul
المصدر: Clinical Genetics. 87:549-553
مصطلحات موضوعية: Genetics, congenital, hereditary, and neonatal diseases and abnormalities, education.field_of_study, Mutation, medicine.diagnostic_test, Genetic counseling, Population, Consanguinity, Biology, medicine.disease_cause, medicine.disease, digestive system diseases, Lynch syndrome, MSH2, medicine, education, Genetics (clinical), Founder effect, Genetic testing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ff39ea2be105a4ccc79710e65abc236aTest
https://doi.org/10.1111/cge.12530Test