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1دورية أكاديمية
المؤلفون: Milena Fraustro, Maria Badino, Mislen Bauer
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101256- (2024)
وصف الملف: electronic resource
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2دورية أكاديمية
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101259- (2024)
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Milena Fraustro, Maria Badino, Andres Rodriguez, Mislen Bauer
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101325- (2024)
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Christine Haller, Wenjie Song, Tricia Cimms, Chao‐Yin Chen, Chester B. Whitley, Raymond Y. Wang, Mislen Bauer, Paul Harmatz
المصدر: JIMD Reports, Vol 49, Iss 1, Pp 53-62 (2019)
مصطلحات موضوعية: enzyme replacement therapy, heat map, MPS VII, mucopolysaccharidosis, Sly syndrome, vestronidase alfa, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2192-8312
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المؤلفون: Mislen Bauer, S. Anthony Wolfe, Martha Mejia, Erin M. Wolfe, Ana Tejero, Leonard Rothenberg, Blake D. Murphy
المصدر: Plastic & Reconstructive Surgery. 148:1335-1346
مصطلحات موضوعية: Male, medicine.medical_specialty, Complete bilateral cleft lip, Dentition, Mixed, Cephalometry, Cleft Lip, Orthodontic Appliances, Periosteum, Maxilla, medicine, Humans, Maxillofacial Development, Mixed dentition, Gingivoplasty, Orthodontics, business.industry, Lateral cephalograms, Infant, Newborn, Infant, Skeletal maturity, medicine.disease, Cleft Palate, stomatognathic diseases, Treatment Outcome, Palatal Obturators, Bilateral cleft lip, Clinical question, Face, Orthopedic surgery, Female, Surgery, Malocclusion, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3ef57afb7bae7589587f7c97d238ef1
https://doi.org/10.1097/prs.0000000000008582 -
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المؤلفون: Paul Harmatz, Tricia Cimms, Wenjie Song, Raymond Y. Wang, Christine Haller, Mislen Bauer, Chester B. Whitley, Chao Yin Chen
المصدر: JIMD Reports, Vol 49, Iss 1, Pp 53-62 (2019)
JIMD reports, vol 49, iss 1
JIMD Reportsمصطلحات موضوعية: Research Report, medicine.medical_specialty, Randomization, Mucopolysaccharidoses (MPS), lcsh:QH426-470, Endocrinology, Diabetes and Metabolism, Mucopolysaccharidosis, Clinical Trials and Supportive Activities, vestronidase alfa, Mucopolysaccharidosis VII, Disease, MPS VII, heat map, Biochemistry, Genetics and Molecular Biology (miscellaneous), lcsh:Diseases of the endocrine glands. Clinical endocrinology, 03 medical and health sciences, 0302 clinical medicine, Rare Diseases, Quality of life, Clinical Research, Behavioral and Social Science, Internal Medicine, Clinical endpoint, Medicine, Pediatric, 0303 health sciences, lcsh:RC648-665, business.industry, 030305 genetics & heredity, Research Reports, mucopolysaccharidosis, Enzyme replacement therapy, medicine.disease, 3. Good health, lcsh:Genetics, Sly syndrome, Physical therapy, Population study, business, 030217 neurology & neurosurgery, enzyme replacement therapy
وصف الملف: application/pdf
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المؤلفون: Jesse Reeves-Garcia, Annette Gawron Roberts, Liset Pelaez, Malgorzata Bujarska, Carole Brathwaite, Mislen Bauer
المصدر: JPGN Reports. 2:e123
مصطلحات موضوعية: medicine.medical_specialty, Gastric adenocarcinoma, Pediatric patient, medicine.anatomical_structure, business.industry, Internal medicine, Stomach, Genetic variants, Medicine, business, Gastroenterology
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8
المؤلفون: Nimesh A. Patel, Linda A. Cernichiaro-Espinosa, Brenda Fallas, Alexander Pogrebniak, Catherin I. Negron, Mislen Bauer, Audina M. Berrocal
المصدر: Ophthalmic Surgery, Lasers and Imaging Retina. 50
مصطلحات موضوعية: medicine.medical_specialty, genetic structures, medicine.medical_treatment, Angiogenesis Inhibitors, Retinal Neovascularization, Revascularization, chemistry.chemical_compound, Ophthalmology, Retinal Vein Occlusion, medicine, Humans, Incontinentia Pigmenti, Retinal Vascular Occlusion, Retina, Laser Coagulation, medicine.diagnostic_test, business.industry, Infant, Retinal, Incontinentia pigmenti, medicine.disease, Fluorescein angiography, eye diseases, Bevacizumab, Treatment Outcome, medicine.anatomical_structure, chemistry, Intravitreal Injections, Female, sense organs, business, Laser coagulation, Retinopathy
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المؤلفون: Christina Hung, Abra Roberts, Ivana Mihalek, Mislen Bauer, Olaf Bodamer, Mario Rodriguez
المصدر: American Journal of Medical Genetics Part A
Volume 179مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Protein Folding, Glycosylation, Mutation, Missense, Raine syndrome, 030105 genetics & heredity, Biology, medicine.disease_cause, FAM20C, osteosclerosis, Craniofacial Abnormalities, Structure-Activity Relationship, 03 medical and health sciences, Exon, Pulmonary hypoplasia, symbols.namesake, Osteosclerosis, BIOMEDICINE AND HEALTHCARE. Basic Medical Sciences. Human Genetics, Genomics and Proteomics, Catalytic Domain, Genetics, medicine, Exophthalmos, Humans, Missense mutation, Abnormalities, Multiple, Genetics (clinical), Sanger sequencing, Extracellular Matrix Proteins, Mutation, Casein Kinase I, Homozygote, Infant, Newborn, Gene Expression Regulation, Developmental, Infant, medicine.disease, Cleft Palate, Phenotype, 030104 developmental biology, Microcephaly, symbols, Generalized osteosclerosis, BIOMEDICINA I ZDRAVSTVO. Temeljne medicinske znanosti. Genetika, genomika i proteomika čovjeka, Protein Binding
وصف الملف: application/pdf
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المؤلفون: Mislen Bauer, Paul Harmatz, Raymond Y. Wang, Emil D. Kakkis, Chester B. Whitley, Wenjie Song, Christine Haller
المصدر: Molecular genetics and metabolism. 123(4)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Vital capacity, Visual acuity, Adolescent, Endocrinology, Diabetes and Metabolism, Sly syndrome, Mucopolysaccharidosis VII, Disease, Biochemistry, 03 medical and health sciences, Young Adult, Endocrinology, Quality of life, Internal medicine, Genetics, Clinical endpoint, medicine, Humans, Child, Molecular Biology, Glucuronidase, business.industry, Enzyme replacement therapy, medicine.disease, Prognosis, Recombinant Proteins, 030104 developmental biology, Female, medicine.symptom, business, Follow-Up Studies