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1دورية أكاديمية
المؤلفون: Marisol Delea, Lucia S. Massara, Lucia D. Espeche, María Paz Bidondo, Pablo Barbero, Jaen Oliveri, Paloma Brun, Mónica Fabro, Micaela Galain, Cecilia S. Fernández, Melisa Taboas, Carlos D. Bruque, Jorge E. Kolomenski, Agustín Izquierdo, Ariel Berenstein, Viviana Cosentino, Celeste Martinoli, Mariana Vilas, Mónica Rittler, Rodrigo Mendez, Lilian Furforo, Rosa Liascovich, Boris Groisman, Sandra Rozental, Liliana Dain, on behalf of the PID ACM-CC Group
المصدر: Genes, Vol 13, Iss 7, p 1172 (2022)
مصطلحات موضوعية: multiple congenital anomalies, congenital heart disease, chromosomal abnormalities, array-CGH, next-generation sequencing, Genetics, QH426-470
وصف الملف: electronic resource
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2
المؤلفون: Melisa Taboas, Liliana Dain, Lucía D. Espeche, Leandro Simonetti, Mónica C. Fabbro, Jorge E. Kolomenski, Alejandro D. Nadra, Carlos David Bruque, Marisol Delea
المصدر: CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICETمصطلحات موضوعية: ASSOCIATED PHENOTYPES, Amino Acid Motifs, Population, CURATED DATABASE, Computational biology, GENETIC VARIANT EVALUATION, Biology, Protein Structure, Secondary, 03 medical and health sciences, Databases, Genetic, Genetics, Humans, Missense mutation, Short linear motif, LINEAR MOTIF, education, Gene, Transcription factor, Genetics (clinical), 030304 developmental biology, 0303 health sciences, education.field_of_study, 030305 genetics & heredity, purl.org/becyt/ford/3.1 [https], Phenotype, NKX2-5, Mutation, Homeobox Protein Nkx-2.5, Homeobox, purl.org/becyt/ford/3 [https], Function (biology)
وصف الملف: application/pdf
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3
المؤلفون: Adriana Oneto, Liliana Alba, Mirta Stivel, Melisa Taboas, Susana Belli, Liliana Dain, Noemí Buzzalino, Lucía D. Espeche, Carlos David Bruque, Belén Benavides-Mori, Marisol Delea, Cecilia Fernández, Titania Pasqualini, Jorge E. Kolomenski
المصدر: Clinical Endocrinology. 93:19-27
مصطلحات موضوعية: medicine.medical_specialty, Genotype, Endocrinology, Diabetes and Metabolism, Population, 030209 endocrinology & metabolism, Context (language use), 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Internal medicine, medicine, Humans, Congenital adrenal hyperplasia, Multiplex ligation-dependent probe amplification, Allele, education, Gene, Alleles, Southern blot, Genetics, education.field_of_study, Adrenal Hyperplasia, Congenital, biology, 21-Hydroxylase, medicine.disease, Phenotype, 030220 oncology & carcinogenesis, Mutation, biology.protein, Steroid 21-Hydroxylase
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4
المؤلفون: Cecilia Fernández, Marisol Delea, Liliana Dain, Carlos David Bruque, Leandro Simonetti, Lucía D. Espeche, Alejandro D. Nadra, Jorge E. Kolomenski, Belén Benavides-Mori, Noemí Buzzalino
المصدر: Human Mutation. 39:5-22
مصطلحات موضوعية: 0301 basic medicine, CIENCIAS MÉDICAS Y DE LA SALUD, dbSNP, Genotype, Genetic counseling, Genética Humana, 030209 endocrinology & metabolism, 21-HYDROXYLASE DEFICIENCY, Disease, Biology, medicine.disease_cause, computer.software_genre, 03 medical and health sciences, 0302 clinical medicine, Databases, Genetic, Genetic variation, Genetics, medicine, Humans, Congenital adrenal hyperplasia, GENETIC VARIANTS, Allele, Alleles, Genetic Association Studies, Genetics (clinical), CONGENITAL ADRENAL HYPERPLASIA, GENOTYPE–PHENOTYPE CORRELATION, Mutation, Adrenal Hyperplasia, Congenital, Database, Genetic Variation, medicine.disease, CYP21A2, Medicina Básica, Phenotype, 030104 developmental biology, Steroid 21-Hydroxylase, computer
وصف الملف: application/pdf