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1Academic Journal
المصدر: AIMS Molecular Science, Vol 8, Iss 4, Pp 223-232 (2021)
مصطلحات موضوعية: l1cam, hydrocephalus, adducted thumb, x-linked recessive, nonsense mutation, Biology (General), QH301-705.5
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2372-0301
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2Academic Journal
المؤلفون: Janecke, Andreas R, Li, Ben, Boehm, Manfred, Krabichler, Birgit, Rohrbach, Marianne, Müller, Thomas, Fuchs, Irene, Golas, Gretchen, Katagiri, Yasuhiro, Ziegler, Shira G, Gahl, William A, Wilnai, Yael, Zoppi, Nicoletta, Geller, Herbert M, Giunta, Cecilia, Slavotinek, Anne, Steinmann, Beat
المصدر: American Journal of Medical Genetics Part A. 170(1)
مصطلحات موضوعية: Biomedical and Clinical Sciences, Ophthalmology and Optometry, Rare Diseases, Brain Disorders, Clinical Research, Pediatric, Adolescent, Adult, Child, Child, Preschool, Connective Tissue Diseases, Dermis, Ehlers-Danlos Syndrome, Female, Fibroblasts, Fluorescent Antibody Technique, Indirect, Humans, Infant, Male, Middle Aged, Mutation, Sulfotransferases, Young Adult, dermatan sulfate, deficiency, dermatan sulfate epimerase, N-acetylgalactosamine 4-O-sulfotransferase, connective tissue, Ehlers-Danlos syndrome, adducted thumb, clubfoot, proteoglycan, arthrogryposis, myopathy, Genetics, Clinical Sciences, Clinical sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/61r2r3nn
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3Academic Journal
المؤلفون: Gabriele Trimarchi, Stefano Giuseppe Caraffi, Francesca Clementina Radio, Sabina Barresi, Gianluca Contrò, Simone Pizzi, Ilenia Maini, Marzia Pollazzon, Carlo Fusco, Silvia Sassi, Davide Nicoli, Manuela Napoli, Rosario Pascarella, Giancarlo Gargano, Orsetta Zuffardi, Marco Tartaglia, Livia Garavelli
المصدر: Genes; Volume 12; Issue 7; Pages: 950
مصطلحات موضوعية: adducted thumb, peripheral polyneuropathy, POGZ, White–Sutton syndrome
جغرافية الموضوع: agris
وصف الملف: application/pdf
Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12070950
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4Academic Journal
المؤلفون: Lautrup, Charlotte K., Teik, Keng W., Unzaki, Ai, Mizumoto, Shuji, Syx, Delfien, Sin, Heng H., Nielsen, Irene K., Markholt, Sara, Yamada, Shuhei, Malfait, Fransiska, Matsumoto, Naomichi, Miyake, Noriko, Kosho, Tomoki
المصدر: MOLECULAR GENETICS & GENOMIC MEDICINE ; ISSN: 2324-9269
مصطلحات موضوعية: Medicine and Health Sciences, clinical features, delineation, dermatan sulfate, musculocontractural EDS-DSE, ADDUCTED THUMB, CHST14
وصف الملف: application/pdf
Relation: https://biblio.ugent.be/publication/8686129; http://hdl.handle.net/1854/LU-8686129; http://dx.doi.org/10.1002/mgg3.1197; https://biblio.ugent.be/publication/8686129/file/8686680
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5
المؤلفون: Hailey Pinz, Teresa Andreone, Sara E Starnes, Stephen R. Braddock, Miguel A. Guzman, Manasa Karumuri, Timothy D. Gauntner, Sherri Besmer
المصدر: Clinical Case Reports
Clinical Case Reports, Vol 9, Iss 3, Pp 1518-1523 (2021)مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Pediatrics, L1, lcsh:Medicine, Case Report, Case Reports, Disease, 030204 cardiovascular system & hematology, digestive system, Adducted thumb, Congenital hydrocephalus, 03 medical and health sciences, 0302 clinical medicine, Medicine, genetics, neurosurgery, Spasticity, L1 syndrome, lcsh:R5-920, paediatrics and adolescent medicine, business.industry, lcsh:R, General Medicine, L1CAM gene, digestive system diseases, 030220 oncology & carcinogenesis, Neurosurgery, medicine.symptom, lcsh:Medicine (General), business
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6
المؤلفون: Dulika S. Sumathipala, Tuva Barøy, Thilini H. Gamage, Selma Mujezinovic Larsen, Eirik Frengen, Doriana Misceo, Petter Strømme
المصدر: Clinical Dysmorphology. 29:107-110
مصطلحات موضوعية: Pathology, medicine.medical_specialty, media_common.quotation_subject, Pathology and Forensic Medicine, Adducted thumb, medicine, Humans, Girl, Child, Genetics (clinical), media_common, medicine.diagnostic_test, business.industry, Homozygote, Brain, Facies, Electroencephalography, Magnetic resonance imaging, Karyotype, Syndrome, General Medicine, Magnetic Resonance Imaging, Chromosome Banding, DNA-Binding Proteins, Phenotype, Thumb, Neurodevelopmental Disorders, Mutation, Pediatrics, Perinatology and Child Health, Frequent infections, Mutation (genetic algorithm), Female, Anatomy, business, Transcription Factors
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7
المؤلفون: Xining Wu, Hua Meng, Yunshu Ouyang, Qingwei Qi, Yi-xiu Zhang
المصدر: Medicine
مصطلحات موضوعية: 0301 basic medicine, Male, Polyhydramnios, Pediatrics, medicine.medical_specialty, DNA Copy Number Variations, Observational Study, Prenatal diagnosis, Gestational Age, 030105 genetics & heredity, Ultrasonography, Prenatal, Adducted thumb, 03 medical and health sciences, Fetus, adducted thumb, Swallowing, Pregnancy, Intellectual Disability, Prenatal Diagnosis, medicine, Humans, Retrospective Studies, isolated, neurodevelopment, business.industry, Spastic Paraplegia, Hereditary, Gestational age, Brain, Retrospective cohort study, Genetic Diseases, X-Linked, General Medicine, ultrasonography, Hand Deformities, medicine.disease, fetal, Magnetic Resonance Imaging, Hydrocephalus, Thumb, Neurodevelopmental Disorders, Female, business, Research Article
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8
المؤلفون: Michele Falco, Angelo Gloria, S. Amata, Lucia Grillo, Maria Piccione, Angela Spalletta, Maurizio Sturnio, Marco Fichera, Vincenzo Antona, Ornella Galesi, Lucia Castiglia, Girolamo Aurelio Vitello, Michele Salemi, Mirella Vinci
المساهمون: Vinci, M., Falco, M., Castiglia, L., Grillo, L., Spalletta, A., Sturnio, M., Galesi, O., Salemi, M., Gloria, A., Amata, S., Piccione, M., Antona, V., Vitello, G., Fichera, M.
المصدر: Genes & Genomics. 38:1159-1164
مصطلحات موضوعية: 0301 basic medicine, Genetics, CRASH syndrome, Hydrocephalu, Sequence analysis, Spastic paraplegia, MASA syndrome, L1-disease, Biology, Corpus callosum, medicine.disease, Biochemistry, Human genetics, Hydrocephalus, 03 medical and health sciences, 030104 developmental biology, Intellectual disability, medicine, Adducted thumb, Differential diagnosis, L1 syndrome, Molecular Biology
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9
المؤلفون: Tahir Atik, Ozgur Cogulu, Esra Isik, Hüseyin Onay, Ferda Ozkinay, Bilçağ Akgün
المساهمون: Ege Üniversitesi
مصطلحات موضوعية: Male, 0301 basic medicine, Genetic counseling, Neural Cell Adhesion Molecule L1, Bioinformatics, medicine.disease_cause, Adducted thumb, Adducted thumbs, 03 medical and health sciences, Intellectual Disability, Intellectual disability, Humans, Medicine, Global developmental delay, L1 syndrome, X-linked recessive inheritance, Mutation, Spastic Paraplegia, Hereditary, business.industry, Genetic Diseases, X-Linked, General Medicine, medicine.disease, Pedigree, Hydrocephalus, 030104 developmental biology, Child, Preschool, L1CAM, Surgery, Neurology (clinical), business
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10
المؤلفون: Pascale Saugier-Veber, Sarah Durrin, Sophie M. Fortier, Waldo Sepulveda, Edgardo Corral, Andres Barrios, Monica Isnard
المصدر: Case Reports in Obstetrics and Gynecology
Case Reports in Obstetrics and Gynecology, Vol 2015 (2015)مصطلحات موضوعية: medicine.medical_specialty, Three dimensional ultrasound, Pediatrics, medicine.diagnostic_test, business.industry, Ultrasound, Combined use, Obstetrics and Gynecology, Case Report, medicine.disease, lcsh:Gynecology and obstetrics, Adducted thumb, Fetal blood sampling, Aqueductal stenosis, medicine, 3D ultrasound, Radiology, business, lcsh:RG1-991
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11
المؤلفون: Sofia Leytes, Reuven Achiron, Yinon Gilboa, Sharon Perlman, Michal Berkenstadt
المصدر: The journal of maternal-fetalneonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians. 31(10)
مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Genetic syndromes, Genetic counseling, Prenatal diagnosis, Genetic Counseling, Gestational Age, 030105 genetics & heredity, Ultrasonography, Prenatal, Adducted thumb, 03 medical and health sciences, Fetus, Pregnancy, medicine, Humans, Abnormalities, Multiple, Retrospective Studies, Hand deformity, Obstetrics, business.industry, Infant, Newborn, Obstetrics and Gynecology, Gestational age, Hand Deformities, medicine.disease, Surgery, body regions, Thumb, Pediatrics, Perinatology and Child Health, Female, business, Abortion, Eugenic
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12
المؤلفون: Eun Song Song, Joo Hyun Cho, Hee Na Kim, Burm Seok Oh, Young Youn Choi
المصدر: Korean Journal of Pediatrics, Vol 57, Iss 6, Pp 292-296 (2014)
Korean Journal of Pediatricsمصطلحات موضوعية: medicine.medical_specialty, Microcephaly, Case Report, Pediatrics, Adducted thumb, Arachnoid cyst, Medicine, Craniofacial, Multiple abnomalities, Psychomotor retardation, Polydactyly, Growth failure, business.industry, lcsh:RJ1-570, Supernumerary nipple, Chromosome 1, lcsh:Pediatrics, medicine.disease, Surgery, medicine.anatomical_structure, Chromosome 1q43-q44 deletion syndrome, Pediatrics, Perinatology and Child Health, Forehead, medicine.symptom, business
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13
المؤلفون: Flora Maria Murru, Irene Bruno, Andrea Trombetta, Flavio Faletra, Ingrid Rabach, Andrea Magnolato
المصدر: Archives of Disease in Childhood. 105:1117-1117
مصطلحات موضوعية: musculoskeletal diseases, Orthodontics, Clubfoot, medicine.diagnostic_test, business.industry, Physical examination, Astigmatism, medicine.disease, Distal arthrogryposis, humanities, Hypoplasia, Adducted thumb, body regions, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Pediatrics, Perinatology and Child Health, medicine, Flexion deformity, Family history, business
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14
المؤلفون: Andreas R. Janecke
المصدر: Epstein's Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis
مصطلحات موضوعية: medicine.medical_specialty, Ehlers–Danlos syndrome, business.industry, ADDUCTED THUMB-CLUBFOOT SYNDROME, medicine, medicine.disease, business, Surgery
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15
المؤلفون: Nikolaus Neu, Ivo Baldissera, Karin M. Unsinn, Ingmar Gassner, Andreas R. Janecke, Thomas Müller, Alfons Kreczy, Gerd Utermann
المصدر: Journal of Medical Genetics. 38:265-269
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, business.industry, Adducted thumb syndrome, MASA syndrome, Telecanthus, Consanguinity, Anatomy, medicine.disease, Adducted thumb, Arachnodactyly, Genetics, medicine, Multiple pterygium syndrome, Congenital contractural arachnodactyly, Letters to the Editor, business, Genetics (clinical)
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16
المؤلفون: P. M. Conneally, Joe C. Christian, Jans Muller, P. A. Andrews
المصدر: Clinical Genetics. 2:95-103
مصطلحات موضوعية: Arthrogryposis, Microcephaly, business.industry, Single pair, Anatomy, Disease, medicine.disease, Adducted thumb, body regions, Myelin, medicine.anatomical_structure, Gliosis, Solubilization, Genetics, Medicine, medicine.symptom, business, Genetics (clinical)
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17
المؤلفون: Yonehiro Kanemura, Hiroko Fujita, Yusei Nakata, Mitsuhiro Kato, Gen Nishimura, Nobuhiko Okamoto, Masahiro Kamada, Yoko Hiraki, Naomichi Matsumoto, Mami Yamasaki, Naoki Harada, Tomoko Ida
المصدر: American Journal of Medical Genetics Part A. :1241-1247
مصطلحات موضوعية: Adult, Male, Chromosomes, Artificial, Bacterial, Pathology, medicine.medical_specialty, Mutation, Missense, Chromosome Disorders, Neural Cell Adhesion Molecule L1, Biology, medicine.disease_cause, Adducted thumb, Central nervous system disease, Gene mapping, Genetics, medicine, Humans, Missense mutation, In Situ Hybridization, Fluorescence, Genetics (clinical), X chromosome, Mutation, Brain, Middle Aged, medicine.disease, Hydrocephalus, Chromosomes, Human, Pair 1, Child, Preschool, Female, Chromosome Deletion, Interphalangeal Joint
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18
المؤلفون: Andreas R. Janecke, Herbert M. Geller, Cecilia Giunta, Yael Wilnai, Thomas Müller, Manfred Boehm, Nicoletta Zoppi, Beat Steinmann, Ben Li, Shira G. Ziegler, William A. Gahl, Yasuhiro Katagiri, Irene Fuchs, Birgit Krabichler, Marianne Rohrbach, Gretchen Golas, Anne Slavotinek
المساهمون: University of Zurich, Janecke, Andreas R
المصدر: American journal of medical genetics. Part A
American journal of medical genetics. Part A, vol 170A, iss 1مصطلحات موضوعية: Male, 0301 basic medicine, Pathology, Ehlers-Danlos syndrome, extracellular matrix, Decorin, Fulminant, Fluorescent Antibody Technique, N-acetylgalactosamine 4-O-sulfotransferase, chemistry.chemical_compound, Genetics(clinical), Child, Connective Tissue Diseases, Fluorescent Antibody Technique, Indirect, Genetics (clinical), connective tissue, Pediatric, Arthrogryposis, dermatan sulfate epimerase, deficiency, Dermis, Anatomy, Middle Aged, 3. Good health, medicine.anatomical_structure, Child, Preschool, Female, Sulfotransferases, medicine.symptom, myopathy, Adult, Indirect, medicine.medical_specialty, 2716 Genetics (clinical), Adolescent, extracellular matrix, Clinical Sciences, Connective tissue, 610 Medicine & health, Biology, dermatan sulfate, Article, Dermatan sulfate, arthrogryposis, clubfoot, Young Adult, 03 medical and health sciences, adducted thumb, Rare Diseases, 1311 Genetics, Clinical Research, medicine, Genetics, Humans, Preschool, Myopathy, proteoglycan, Infant, Fibroblasts, medicine.disease, Brain Disorders, 030104 developmental biology, chemistry, Ehlers–Danlos syndrome, 10036 Medical Clinic, Mutation, Ehlers-Danlos Syndrome, Differential diagnosis
وصف الملف: application/pdf
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19
المؤلفون: L Korenreich, Charles E. Schwartz, Dov Inbar, MJ Friez, Rachel Straussberg, Lina Basel-Vanagaite, Mordechai Shohat
المصدر: Clinical Genetics. 69:414-419
مصطلحات موضوعية: Genetics, Pathology, medicine.medical_specialty, business.industry, Corpus callosum, medicine.disease, nervous system diseases, Adducted thumb, Hydrocephalus, Agenesis, Spastic, Missense mutation, Medicine, business, Agenesis of the corpus callosum, Paraplegia, Genetics (clinical)
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20
المؤلفون: Paul R. Manske, Charles A. Goldfarb, Linda K. Heinze, Albert O. Gee
المصدر: The Journal of Hand Surgery. 30:1004-1008
مصطلحات موضوعية: Male, musculoskeletal diseases, medicine.medical_specialty, Adolescent, Abstracting and Indexing, Thumb, Girth (geometry), Adducted thumb, Fingers, Reference Values, medicine, Humans, Body Weights and Measures, Orthopedics and Sports Medicine, Child, Orthodontics, Pollicization, business.industry, Age Factors, Infant, Index finger, Metacarpophalangeal joint, Phalanx, Surgery, body regions, medicine.anatomical_structure, Child, Preschool, Nail (anatomy), Female, business