المؤلفون: Judy Chernos, Ping-Yee Billie Au, Mary Ann Thomas

المصدر: American Journal of Medical Genetics Part A. 170:2984-2987

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Pathology, medicine.medical_specialty, Ultrasonography, Prenatal, 03 medical and health sciences, Pregnancy, Recurrence, Genetics, medicine, Humans, In patient, Genetics (clinical), Arthrogryposis, Hand deformity, Comparative Genomic Hybridization, business.industry, Facies, Infant, Microdeletion syndrome, medicine.disease, Distal arthrogryposis, Phenotype, 030104 developmental biology, Female, Chromosome Deletion, business, Branchio-Oto-Renal Syndrome, Branchio oto renal, Chromosomes, Human, Pair 8

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07fc1a2bf14b6c0747f7d1849713a5faTest
https://doi.org/10.1002/ajmg.a.37695Test

المؤلفون: Indranil Chatterjee, Mainak Dutta

المصدر: Ear, nose,throat journal. 98(1)

مصطلحات موضوعية: Male, medicine.medical_specialty, Hypospadias, business.industry, Infant, medicine.disease, Dermatology, Otorhinolaryngology, Medicine, Humans, business, Branchio oto renal, Branchio-Oto-Renal Syndrome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c31cad48b1ef6306ebba5d4e2805147Test
https://pubmed.ncbi.nlm.nih.gov/30834787Test

المؤلفون: Jun Xu, Haijin Liu, Weidong Zhu, Penghui Chen, Hao Wu, Tao Yang, Yun Lin

المصدر: International journal of pediatric otorhinolaryngology. 123

مصطلحات موضوعية: Proband, Male, China, Hearing loss, symbols.namesake, Asian People, medicine, Humans, Chinese han, Hearing Loss, Gene, Sanger sequencing, Genetics, Base Sequence, business.industry, Intracellular Signaling Peptides and Proteins, Nuclear Proteins, General Medicine, Phenotype, Pedigree, Otorhinolaryngology, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Mutation, symbols, Female, medicine.symptom, Protein Tyrosine Phosphatases, business, Branchio-Oto-Renal Syndrome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb7c842725efe9d0ff4abc116af9b1c1Test
https://pubmed.ncbi.nlm.nih.gov/31102969Test

المؤلفون: Jiongjiong Hu, Wenjun Xia, Yuanzhen Liu, Zhaoxin Ma, Lisha Deng

المصدر: Molecular Genetics & Genomic Medicine

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Heterozygote, Candidate gene, In silico, Mutation, Missense, ANLN, 030105 genetics & heredity, Biology, 03 medical and health sciences, autosomal dominant, Genetics, Humans, Missense mutation, Child, Molecular Biology, Gene, Genetics (clinical), Exome sequencing, Genetic heterogeneity, branchio‐otic syndrome, Microfilament Proteins, Original Articles, Middle Aged, Phenotype, Pedigree, 030104 developmental biology, Female, Original Article, exome sequencing, Branchio-Oto-Renal Syndrome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b728895c9985957d2495ba6b28fc96a7Test
https://doi.org/10.1002/mgg3.525Test

المؤلفون: Sivakumar Chinnadurai, Larry D. Hartzell

المصدر: Clinics in perinatology. 45(4)

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Craniofacial abnormality, Goldenhar syndrome, Risk Assessment, Craniofacial Abnormalities, 03 medical and health sciences, 0302 clinical medicine, Goldenhar Syndrome, medicine, Humans, Abnormalities, Multiple, Craniofacial, 030223 otorhinolaryngology, Congenital Microtia, Branchio-oto-renal syndrome, business.industry, Microtia, Infant, Newborn, Obstetrics and Gynecology, Plastic Surgery Procedures, medicine.disease, Hemifacial microsomia, Macrostomia, Treatment Outcome, 030220 oncology & carcinogenesis, Pediatrics, Perinatology and Child Health, Quality of Life, Female, business, Treacher Collins syndrome, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5df46b574afc0ad14a62e8f7c64ba636Test
https://pubmed.ncbi.nlm.nih.gov/30396412Test

المؤلفون: Audina M. Berrocal, Supalert Prakhunhungsit, Rosanna Martens, Linda A. Cernichiaro Espinosa

المصدر: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus. 23(3)

مصطلحات موضوعية: Male, medicine.medical_specialty, business.industry, DNA Mutational Analysis, Optic Disk, Infant, DNA, Dermatology, Phenotype, Coloboma, Diagnosis, Differential, Ophthalmology, Transcription Factor AP-2, Pediatrics, Perinatology and Child Health, Mutation, Medicine, Humans, Female, business, Child, Branchio-Oto-Renal Syndrome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6730ff6ed0a639ff5412a4a94da36c0bTest
https://pubmed.ncbi.nlm.nih.gov/30822509Test

المؤلفون: Qiong-Qiong Chen, Li-Fang Shen, Shui-Hong Zhou, Qi Yu

المصدر: Pediatric surgery international. 34(12)

مصطلحات موضوعية: Diagnostic Imaging, Natural Orifice Endoscopic Surgery, medicine.medical_specialty, Fistula, Craniofacial Abnormalities, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Pediatric surgery, Deformity, medicine, Pharyngeal groove, Humans, 030223 otorhinolaryngology, Child, Branchio-oto-renal syndrome, business.industry, Incidence, General Medicine, Pharyngeal Diseases, Robotics, medicine.disease, Surgery, Branchial Region, 030220 oncology & carcinogenesis, Pediatrics, Perinatology and Child Health, sense organs, Presentation (obstetrics), medicine.symptom, Differential diagnosis, business, Complication

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0935174ddd66b7ecb294320d3950b003Test
https://pubmed.ncbi.nlm.nih.gov/30251021Test

المؤلفون: Hiroshi Hosoi, Ichiro Ota, Katsunari Yane, Takashi Masui, Yoshinori Nakai

المصدر: Practica oto-rhino-laryngologica. Suppl.. 2014, 140:108

المؤلفون: Albert K. Oh, Frank P. Albino, Benjamin C. Wood, Sojung Yi, Gary F. Rogers, Tina M. Sauerhammer

المصدر: The Journal of craniofacial surgery. 27(6)

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Cleft Lip, 030105 genetics & heredity, Microphthalmia, TFAP2A, 03 medical and health sciences, medicine, Humans, Expressivity (genetics), Craniofacial, Branchio-oto-renal syndrome, Coloboma, business.industry, Infant, Newborn, General Medicine, medicine.disease, Dermatology, 030104 developmental biology, medicine.anatomical_structure, Otorhinolaryngology, Child, Preschool, Surgery, Female, sense organs, business, Branchio-oculo-facial syndrome, Pharyngeal arch, Branchio-Oto-Renal Syndrome, Neck

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b90ba39b14ec0ee905098e02972617aTest
https://pubmed.ncbi.nlm.nih.gov/27607113Test

المؤلفون: Kristy L. Kenyon, Sally A. Moody, Karen M. Neilson, Francesca Pignoni, Dominique Alfandari

المصدر: Comparative Biochemistry and Physiology Part C: Toxicology & Pharmacology. 178:16-24

مصطلحات موضوعية: Genetics, Candidate gene, Transcription, Genetic, Physiology, Xenopus, Health, Toxicology and Mutagenesis, Kidney development, Cell Biology, General Medicine, Biology, Kidney, Toxicology, Congenital hearing loss, biology.organism_classification, Biochemistry, Article, Developmental genetics, Animals, Humans, Gene, Branchio-Oto-Renal Syndrome, Gene Discovery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30ecf19215e6338a7a44a00030e233fdTest
https://doi.org/10.1016/j.cbpc.2015.06.007Test