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المؤلفون: Elina Bychkova, E. A. Filippova, N. A. Golubeva, A. V. Markov, L. O. Sangina
المصدر: Russian Journal of Genetics. 56:108-111
مصطلحات موضوعية: 0106 biological sciences, Genetics, 0303 health sciences, CATS, engineering.material, Biology, Hair follicle, 01 natural sciences, Phenotype, Breed, Human genetics, 03 medical and health sciences, medicine.anatomical_structure, Carnelian, New mutation, engineering, medicine, Mc1r gene, 030304 developmental biology, 010606 plant biology & botany
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ab439d6bcdbf16cb3dc087531623be89Test
https://doi.org/10.1134/s1022795420010020Test -
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المؤلفون: Hector Vera Cuesta, Laritza Martínez Rey, Tatiana Acosta Sánchez, Deynis Carmenate Naranjo
المصدر: Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)
Journal of Inborn Errors of Metabolism and Screening, Volume: 9, Article number: e20210013, Published: 09 AUG 2021مصطلحات موضوعية: Mutation, Medicine (General), NAGLU, business.industry, Endocrinology, Diabetes and Metabolism, Mucopolysaccharidosis, Sanfilippo syndrome, medicine.disease, medicine.disease_cause, Compound heterozygosity, Phenotype, R5-920, Mucopolysaccharidosis III, Pediatrics, Perinatology and Child Health, Immunology, medicine, business, Gene, Genetics (clinical), hirsutism, new mutation
وصف الملف: text/html
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::002b0539955a481b7aeca343ab3223ebTest
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100505&tlng=enTest -
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المؤلفون: M. Bengoa Caamaño, J M Pardal-Fernandez, S. Álvarez, M C Carrascosa-Romero, C. de Cabo, M.C. Medina-Monzón
المصدر: Neuromuscular Disorders. 28:881-884
مصطلحات موضوعية: Male, 0301 basic medicine, Bioinformatics, Compound heterozygosity, Genetic analysis, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Gene, Genetics (clinical), Myasthenic Syndromes, Congenital, Muscle Weakness, Symporters, business.industry, Infant, Newborn, Congenital myasthenic syndrome, medicine.disease, Choline transporter, Phenotype, 030104 developmental biology, Neurology, Mutation, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), New mutation, Neurology (clinical), Differential diagnosis, Respiratory Insufficiency, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83c3cd92b125b1a458d7b30f02ec35eaTest
https://doi.org/10.1016/j.nmd.2018.06.020Test -
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المؤلفون: Charles Marques Lourenço, Jaime Eduardo Cecílio Hallak, Wilson Marques, Pedro J. Tomaselli, Silmara P. Gouvea, Fernanda Barbosa Figueiredo, Silvana Giuliatti, Wilson A. Silva, Anna Paula Paranhos Miranda Covaleski
المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USPمصطلحات موضوعية: 0301 basic medicine, Male, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Population, Prevalence, Nerve Tissue Proteins, Disease, Biology, Cohort Studies, 03 medical and health sciences, Tooth disease, Young Adult, 0302 clinical medicine, Recessive inheritance, Charcot-Marie-Tooth Disease, Humans, education, Child, Gene, Genetics (clinical), Likely pathogenic, Genetics, Guanine Deaminase, education.field_of_study, MUTAÇÃO GENÉTICA, Axons, nervous system diseases, Pedigree, 030104 developmental biology, Phenotype, Neurology, Pediatrics, Perinatology and Child Health, New mutation, Mutation, Female, Neurology (clinical), 030217 neurology & neurosurgery, Brazil
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef65dc156ae331e9a88bd20c1ef50efbTest
https://pubmed.ncbi.nlm.nih.gov/33903021Test -
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المؤلفون: Stephen O. Brennan, Darrell Wang, Campbell R. Sheen, Mark Horridge
المصدر: Hemoglobin. 41:140-143
مصطلحات موضوعية: Adult, Lysis, Protein Stability, Chemistry, Hemoglobins, Abnormal, Protein subunit, Biochemistry (medical), Clinical Biochemistry, Hematology, Molecular biology, Phenotype, DNA sequencing, 03 medical and health sciences, 0302 clinical medicine, 030220 oncology & carcinogenesis, Mutation, New mutation, Humans, Female, Hb Amsterdam, Hemoglobin, Gene, Genetics (clinical), 030215 immunology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bbe307f4d1f97bc81cc34ea015a2d60Test
https://doi.org/10.1080/03630269.2017.1311911Test -
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المؤلفون: Roman Kalkreuth
المصدر: IJCCI
مصطلحات موضوعية: Computer science, Point mutation, MathematicsofComputing_NUMERICALANALYSIS, 0102 computer and information sciences, 02 engineering and technology, Computational biology, Genetic operator, ComputingMethodologies_ARTIFICIALINTELLIGENCE, 01 natural sciences, Phenotype, DNA sequencing, 010201 computation theory & mathematics, New mutation, Mutation (genetic algorithm), 0202 electrical engineering, electronic engineering, information engineering, 020201 artificial intelligence & image processing, Boolean function, Cartesian genetic programming
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::350f06ca6640be6e83aab33f99e8afacTest
https://doi.org/10.5220/0008070100820092Test -
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المؤلفون: Ashwin Dalal, Shagun Aggarwal, Ashish Bahal
المصدر: European Journal of Medical Genetics. 59:5-10
مصطلحات موضوعية: 0301 basic medicine, Genetics, Mutation, General Medicine, Biology, Occludin, medicine.disease, medicine.disease_cause, Phenotype, 03 medical and health sciences, Exon, 030104 developmental biology, New mutation, medicine, Polymicrogyria, Gene, Genetics (clinical), Calcification
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a46c174ad7f2ac3d8917a000a2b47c00Test
https://doi.org/10.1016/j.ejmg.2015.11.014Test -
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المؤلفون: Anna Latorre, Bettina Balint, Vittorio Rispoli, Kailash P. Bhatia
المصدر: Movement Disorders Clinical Practice. 6:265-266
مصطلحات موضوعية: Genetics, Ataxia, Neurology, business.industry, New mutation, medicine, Neurology (clinical), Oculomotor apraxia, medicine.symptom, medicine.disease, business, Phenotype
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b734e4dac71b4d743861d4596a5ef959Test
https://doi.org/10.1002/mdc3.12725Test -
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المصدر: Actas Dermo-Sifiliográficas (English Edition). 107:433-435
مصطلحات موضوعية: Genetics, Histology, business.industry, Ichthyosis, Self-Healing Collodion Baby, Dermatology, medicine.disease, Phenotype, Pathology and Forensic Medicine, ALOX12B Gene, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, 030220 oncology & carcinogenesis, Mutation (genetic algorithm), New mutation, Medicine, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8e810917a9ec36f0625eea6ce88f09ffTest
https://doi.org/10.1016/j.adengl.2016.03.014Test -
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المؤلفون: Luigi D’Ambrosio, Elena Gennaro, Salvatore Striano, Federico Zara, Andrea de Bartolomeis, Diana Galletta, Pia Bernardo, Felice Iasevoli, Serena Troisi, Antonietta Coppola
المساهمون: Bernardo, Pia, Galletta, Diana, Iasevoli, Felice, D'Ambrosio, Luigi, Troisi, Serena, Gennaro, Elena, Zara, Federico, Striano, Salvatore, De Bartolomeis, Andrea, Coppola, Antonietta
المصدر: Seizure. 51
مصطلحات موضوعية: 0301 basic medicine, Adult, medicine.medical_specialty, Neurology, CHD2 gene, Psychiatric profile, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Intellectual Disability, Intellectual disability, Genetic epilepsy, medicine, Humans, behavioral, DNA-Binding Proteins, Female, Phenotype, Psychotic Disorders, Mutation, Genetics, business.industry, Cognition, General Medicine, medicine.disease, 030104 developmental biology, CHD2, Mutation (genetic algorithm), New mutation, Neurology (clinical), business, Neuroscience, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a799a90f91cafce2d861384cf314b373Test
https://pubmed.ncbi.nlm.nih.gov/28910737Test