المؤلفون: Joel W. Jones, Ari Saravia, Ishwarya S. Mamidi, Jairo I. Torres, Adele K. Evans

المصدر: Annals of Otology, Rhinology & Laryngology. :000348942211290

مصطلحات موضوعية: Otorhinolaryngology, General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f4f4567247109a5784b591b93f583d1
https://doi.org/10.1177/00034894221129014

المؤلفون: Jairo I. Torres, Peter Joslyn, Regina M. Zambrano, Hannah Meddaugh, Jessica Patrick-Esteve, Staci Olister, Christy Mumphrey

المصدر: Clinical Dysmorphology. 29:158-160

مصطلحات موضوعية: Male, business.industry, DNA Helicases, Mutation, Missense, MEDLINE, Infant, General Medicine, Bioinformatics, medicine.disease, Pathology and Forensic Medicine, DNA-Binding Proteins, CHARGE syndrome, Text mining, Pediatrics, Perinatology and Child Health, medicine, Humans, Missense mutation, CHARGE Syndrome, Anatomy, business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb2f7226348bd1fb5037aa9e943f71e3
https://doi.org/10.1097/mcd.0000000000000315

المؤلفون: Regina M. Zambrano, Jairo I. Torres, Yves Lacassie, Michael Marble, Hannah Meddaugh, Kelsey Casano

المصدر: European Journal of Medical Genetics. 63:103842

مصطلحات موضوعية: Male, 0301 basic medicine, Proband, medicine.medical_specialty, Telecanthus, Nevoid basal-cell carcinoma syndrome, 030105 genetics & heredity, Patched-2 Receptor, 03 medical and health sciences, Germline mutation, Genetics, medicine, Humans, Hypertelorism, Child, Genetics (clinical), business.industry, Macrocephaly, Basal Cell Nevus Syndrome, General Medicine, medicine.disease, Dermatology, stomatognathic diseases, Phenotype, 030104 developmental biology, PTCH1, Mutation, medicine.symptom, Palmar crease, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bc8545dd3a7dc026f3ae8e4f664afa7
https://doi.org/10.1016/j.ejmg.2020.103842

المؤلفون: Hugo St. Hilaire, Lori McBride, Jennie C. Lacour, Michael H. Moses, Jairo I. Torres, Gerhard S. Mundinger, Yves Lacassie, Jessica Koon

المصدر: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association. 56(5)

مصطلحات موضوعية: Microcephaly, Bioinformatics, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Craniofacial, 030223 otorhinolaryngology, Gene, Ribonucleoprotein, U5 Small Nuclear, Mutation, business.industry, 030206 dentistry, Synostosis, medicine.disease, Peptide Elongation Factors, Phenotype, Hemifacial microsomia, Otorhinolaryngology, Etiology, Oral Surgery, business, Mandibulofacial Dysostosis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8055d8f5b0cb7f3908d3808ceb23488
https://pubmed.ncbi.nlm.nih.gov/30343593

المؤلفون: Cliff A. Megerian, Jairo I. Torres

المصدر: Otology & Neurotology. 28:1159

مصطلحات موضوعية: medicine.medical_specialty, Pathology, business.industry, Hearing loss, Ear neoplasm, Audiology, medicine.disease, Sensory Systems, Endolymphatic sac, medicine.anatomical_structure, Otorhinolaryngology, Medicine, Neurology (clinical), medicine.symptom, Von Hippel–Lindau disease, business, Cochlear implantation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4a6162acd6fb0b91e08f885b83d594c3
https://doi.org/10.1097/mao.0b013e318151446c