-
1دورية أكاديمية
المؤلفون: Nayla Y. León, Thanh Nha Uyen Le, Andrew Garvie, Lee H. Wong, Stefan Bagheri-Fam, Vincent R. Harley
المصدر: iScience, Vol 27, Iss 5, Pp 109629- (2024)
مصطلحات موضوعية: Genetics, Human Genetics, Science
وصف الملف: electronic resource
-
2
المؤلفون: Alejandra P. Reyes, Nayla Y. León, Emily R. Frost, Vincent R. Harley
المصدر: Nature Reviews Urology.
مصطلحات موضوعية: Urology
-
3
المؤلفون: Vincent R. Harley, Nayla Y León
المصدر: Human Genetics. 140:1625-1634
مصطلحات موضوعية: Genitourinary system, Genetic counseling, Alpha-thalassemia, Biology, Bioinformatics, medicine.disease, Molecular medicine, Germline, Human genetics, Intellectual disability, Genetics, medicine, Genetics (clinical), ATRX
-
4
المؤلفون: Nayla Y, León, Vincent R, Harley
المصدر: Human genetics. 140(12)
مصطلحات موضوعية: Molecular Diagnostic Techniques, alpha-Thalassemia, Intellectual Disability, Mutation, Mental Retardation, X-Linked, Animals, Humans
-
5
المؤلفون: Nayla Y León, Alejandra P Reyes, Vincent R. Harley
المصدر: Yearbook of Paediatric Endocrinology.
مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, MEDLINE, Disorders of Sex Development, 030209 endocrinology & metabolism, Intersex Persons, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Internal Medicine, medicine, Humans, 030212 general & internal medicine, Intensive care medicine, business.industry, Sexual Development, Infant, Newborn, Clinical algorithm, Ambiguous genitalia, External genitalia, Etiology, Presentation (obstetrics), business, Psychosocial, Algorithms
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7cb9994209415cbf9203f8c0270b0e3
https://doi.org/10.1530/ey.17.6.2 -
6
المؤلفون: Constanza García-Delgado, Carlos Serrano-Bello, Verónica F Morán Barroso, Alicia Cervantes, Nayla Y León-Carlos, Ariadna Berenice Morales-Jiménez
المصدر: Archivos Argentinos de Pediatria. 116
مصطلحات موضوعية: Monosomy 9p, Infertility, Psychomotor learning, Monosomy, business.industry, Chromosomal translocation, Chromosome 9, Karyotype, Trigonocephaly, medicine.disease, Bioinformatics, Pediatrics, Perinatology and Child Health, medicine, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8ec6b075c32ce4e604978aa52eace88e
https://doi.org/10.5546/aap.2018.e603 -
7
المؤلفون: Nayla Y, León-Carlos, Constanza, García-Delgado, Ariadna B, Morales-Jiménez, Carlos, Serrano-Bello, Alicia, Cervantes, Verónica F, Morán Barroso
المصدر: Archivos argentinos de pediatria. 116(4)
مصطلحات موضوعية: Phenotype, Genotype, Child, Preschool, Karyotyping, Infant, Newborn, Humans, Chromosome Disorders, Female, Chromosome Deletion, Chromosomes, Human, Pair 9, Translocation, Genetic
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::ae3549043ec356817cbca0983bad8740
https://pubmed.ncbi.nlm.nih.gov/30016040