-
1
المؤلفون: Eugenio Zapata‐Aldana, Delia Ceballos‐Sáenz, Jorge Rodrigo Vásquez‐Ríos, Lilian Vera‐Alvarez, Jorge Carrillo‐Soler
المصدر: Clinical Genetics.
مصطلحات موضوعية: Genetics, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4745b51011be954133bae123e0a21b88Test
https://doi.org/10.1111/cge.14356Test -
2
المؤلفون: Benjamín Cárcamo, Barbara Masotto, Anna Baquero-Vaquer, Delia Ceballos-Saenz, Eugenio Zapata-Aldana
المصدر: European Journal of Medical Genetics. 65:104600
مصطلحات موضوعية: Hepatoblastoma, Liver Neoplasms, Micrognathism, General Medicine, DNA-Binding Proteins, Face, Intellectual Disability, Genetics, Humans, Abnormalities, Multiple, Child, Hand Deformities, Congenital, Neck, Genetics (clinical), Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c6142e1b384be0b04cb52104659b7a6Test
https://doi.org/10.1016/j.ejmg.2022.104600Test -
3
المؤلفون: Amanda Morris, Eugenio Zapata-Aldana, Jane A. Evans, Mahmoud Almutadares, Elizabeth Sellers
المصدر: Clinical Dysmorphology. 30:17-21
مصطلحات موضوعية: Aphallia, medicine.medical_specialty, Disorders of Sex Development, Physical examination, Clitoris, Vulva, Pathology and Forensic Medicine, Humans, Medicine, Genetic Predisposition to Disease, Genetic Association Studies, Genetics (clinical), Labium majorum, medicine.diagnostic_test, business.industry, General Medicine, medicine.disease, Dermatology, Phenotype, medicine.anatomical_structure, Agenesis, External genitalia, Pediatrics, Perinatology and Child Health, Female, Anatomy, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a99b72d9682bb6230763e82932267cdTest
https://doi.org/10.1097/mcd.0000000000000354Test -
4
المؤلفون: Delia Ceballos-Saenz, Eugenio Zapata-Aldana, Nicholas E. Johnson, Cam-Tu Emilie Nguyen, Craig Campbell, Michael Glueck, Madhavi Prasad
المصدر: Journal of Neuromuscular Diseases. 6:341-347
مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Adolescent, Disease, Myotonic dystrophy, 03 medical and health sciences, 0302 clinical medicine, Ptosis, Human Phenotype Ontology, Humans, Myotonic Dystrophy, Medicine, Longitudinal Studies, Child, Muscle contracture, Palsy, business.industry, Infant, Hyporeflexia, medicine.disease, Phenotype, 030104 developmental biology, Biological Ontologies, Neurology, Child, Preschool, Disease Progression, Neurology (clinical), medicine.symptom, business, Infantile axial hypotonia, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53f424e33deb2c503a17f14df24b6725Test
https://doi.org/10.3233/jnd-180345Test -
5
المؤلفون: Tina Duong, Kiera Berggren, Craig Campbell, Tetsuo Ashizawa, Leah Hellerstein, Chiara Marini-Bettolo, Anne Berit Ekström, Nicholas E. Johnson, Nathalie Angeard, Valeria A. Sansone, Eugenio Zapata Aldana, Cuixia Tian
المصدر: Paediatrics Publications
Neurology: Clinical Practiceمصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Population, Psychological intervention, MEDLINE, Review, Myotonic dystrophy, 03 medical and health sciences, 0302 clinical medicine, Quality of life, medicine, education, education.field_of_study, business.industry, Triplet repeat, Pediatric age, medicine.disease, 3. Good health, 030211 gastroenterology & hepatology, Neurology (clinical), Age of onset, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::095c68871835bfcc1ad0741783dc3da6Test
https://doi.org/10.1212/cpj.0000000000000646Test -
6
المصدر: Paediatrics Publications
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Canada, Genotype, 030105 genetics & heredity, Biology, Pediatrics, Short stature, Ion Channels, 03 medical and health sciences, Ptosis, Marden–Walker syndrome, Genetics, medicine, Humans, Genetic Predisposition to Disease, Clinical significance, Genetic Testing, Alleles, Genetic Association Studies, Genetics (clinical), Arthrogryposis, Proprioception, Infant, Newborn, Facies, medicine.disease, Phenotype, Pedigree, 030104 developmental biology, arthrogryposis multiple, distal arthrogryposis, mechanotransduction, Piezo2, restrictive pulmonary function, Child, Preschool, Mutation, PIEZO2 Gene, Female, Congenital contracture, medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34331b004256ed947798a00a307ba952Test
https://doi.org/10.1002/ajmg.a.61143Test -
7
المصدر: Journal of Neuromuscular Diseases. 5:331-340
مصطلحات موضوعية: Adult, Male, Polyhydramnios, 0301 basic medicine, Canada, Respiratory Therapy, Pediatrics, medicine.medical_specialty, Gastrointestinal Diseases, Gestational Age, Neonatal onset, Myotonic dystrophy, Cerebral Ventricles, Cohort Studies, 03 medical and health sciences, Enteral Nutrition, 0302 clinical medicine, Pregnancy, Cryptorchidism, Intubation, Intratracheal, medicine, Humans, Myotonic Dystrophy, Prospective Studies, Prospective cohort study, Respiratory Tract Infections, Respiratory tract infections, business.industry, Infant, Newborn, Infant, Length of Stay, medicine.disease, Respiration, Artificial, Musculoskeletal Abnormalities, Natural history, 030104 developmental biology, Neonatal hypotonia, Neurology, Child, Preschool, Cohort, Female, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ad74fa4b669592108636b381ae94a7dTest
https://doi.org/10.3233/jnd-170277Test -
8
المؤلفون: Natalya Karp, Tugce B. Balci, So Lee, Bekim Sadikovic, Eugenio Zapata-Aldana, Ping Yang, Asuri N. Prasad
المصدر: Paediatrics Publications
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Genetic testing, Disease, Single Center, Diagnostic yield, Epilepsy, Genetic etiology, Exome Sequencing, medicine, Humans, Genetic Testing, Child, Likely pathogenic, Retrospective Studies, Ontario, medicine.diagnostic_test, business.industry, Retrospective cohort study, General Medicine, medicine.disease, Natural history, Observational Studies as Topic, Neurology, Female, Neurology (clinical), business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b6898db836f5a663cefc88e9f7b9f95Test
https://pubmed.ncbi.nlm.nih.gov/32741404Test -
9
المؤلفون: Luis Altamirano-Diaz, Basmah El-Aloul, Craig Campbell, Rebecca Rodrigues, Eugenio Zapata-Aldana, Cam-Tu Nguyen, Monali S. Malvankar-Mehta
المصدر: Paediatrics Publications
مصطلحات موضوعية: musculoskeletal diseases, medicine.medical_specialty, Duchenne muscular dystrophy, Cardiomyopathy, Psychological intervention, MEDLINE, CINAHL, 030204 cardiovascular system & hematology, Pediatrics, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, medicine, Humans, Muscular Dystrophy, Muscular dystrophy, Intensive care medicine, Genetics (clinical), Aldosterone, business.industry, Duchenne, medicine.disease, Muscular Dystrophy, Duchenne, Neurology, chemistry, Heart failure, Pediatrics, Perinatology and Child Health, Physical therapy, Neurology (clinical), Cardiomyopathies, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee3469e0c7ffcadeb797f8fb287e0fd4Test
https://doi.org/10.1016/j.nmd.2016.09.019Test -
10
المؤلفون: Hugh J. McMillan, Craig Campbell, Tony Rupar, Eugenio Zapata-Aldana, Mark A. Tarnopolsky, John J. Mitchell, Johannes Roth, Pranesh Chakraborty, Lesley Turner, Catherine Brunel-Guitton
المصدر: Paediatrics Publications
Paediatr Child Healthمصطلحات موضوعية: medicine.medical_specialty, Endocrinology, Juvenile onset, business.industry, Internal medicine, Pediatrics, Perinatology and Child Health, Medicine, Maltase deficiency, Surveillance Highlights, Disease, business
وصف الملف: text/html
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d35cbee25156be10f52611503acfb0aTest
https://ir.lib.uwo.ca/paedpub/2219Test