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1دورية أكاديمية
المؤلفون: Tamaki Kato, Mari Urano, Mari Matsuo, Kayoko Saito
المصدر: Tokyo Women's Medical University Journal, Vol 5, Iss 0, Pp 93-102 (2021)
مصطلحات موضوعية: national registry, spinal muscular atrophy, clinical characteristics, japan, Medicine
وصف الملف: electronic resource
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المؤلفون: Akemi Yamauchi, Mari Matsuo, Kayoko Saito, Tamaki Kato, Mayuri Ito, Kenji Nakashima, Mari Urano
المصدر: Braindevelopment. 44(1)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Pediatrics, Adolescent, Disease, Muscular Atrophy, Spinal, Young Adult, Developmental Neuroscience, Japan, Epidemiology, Prevalence, Medicine, Humans, Genetic Testing, Child, Genetic testing, Aged, Aged, 80 and over, Newborn screening, medicine.diagnostic_test, business.industry, Incidence (epidemiology), Incidence, Infant, General Medicine, Spinal muscular atrophy, Middle Aged, SMA, medicine.disease, Confidence interval, Epidemiologic Studies, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), business
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المؤلفون: Hironao Numabe, Akemi Yamauchi, Mari Urano, Naoko Iwasaki, Masaki Ogawa, Toshitaka Uchiyama, Mari Matsuo, Satoru Shimizu, Motoko Watanabe, Kayoko Saito
المصدر: Journal of Genetic Counseling. 26:628-639
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Genetic counseling, Genetic Counseling, 030105 genetics & heredity, 03 medical and health sciences, 0302 clinical medicine, Japan, Pregnancy, Prenatal Diagnosis, medicine, Humans, Genetic Testing, Spouses, Genetics (clinical), Gynecology, 030219 obstetrics & reproductive medicine, business.industry, Public health, Middle Aged, First person, Family medicine, Female, business
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المؤلفون: Ryoko Aoki, Kayoko Saito, Yuri Kitamura, Mari Urano, Eri Kondo
المصدر: Journal of Human Genetics. 61:931-942
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Neuromuscular disease, Adolescent, Genotype, Biopsy, Biology, Bioinformatics, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Nemaline myopathy, Fukuyama congenital muscular dystrophy, Genetics, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Muscular dystrophy, Centronuclear myopathy, Child, Muscle, Skeletal, Alleles, Genetic Association Studies, Genetics (clinical), Brain, High-Throughput Nucleotide Sequencing, Infant, Reproducibility of Results, Neuromuscular Diseases, Congenital myasthenic syndrome, medicine.disease, Magnetic Resonance Imaging, Phenotype, 030104 developmental biology, Child, Preschool, Mutation, Congenital muscular dystrophy, Medical genetics, Female, 030217 neurology & neurosurgery
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المؤلفون: Hiroyuki Mishima, Yosaburo Shibata, Kayoko Saito, Alban-Elouen Baruteau, Sandra Mercier, Seiko Ohno, Stéphanie Bonnaud, Aurélie Thollet, Julien Barc, Koh-ichiro Yoshiura, Kiyomasa Nishii, Vincent Probst, Mari Urano, Hervé Le Marec, Hiroki Kimoto, Ryo Sasaki, Saki Otsuki, Minoru Horie, Xavier Daumy, Naomasa Makita, Jean-Jacques Schott, Nobuhisa Hagiwara, Jean-Philippe Perrin, Taisuke Ishikawa, Akiko Seki, Swanny Fouchard, Philippe Parent, Richard Redon
المساهمون: unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), Centre hospitalier universitaire de Nantes (CHU Nantes)
المصدر: Journal of the American College of Cardiology
Journal of the American College of Cardiology, Elsevier, 2017, Equipe I, 70 (3), pp.358--370. ⟨10.1016/j.jacc.2017.05.039⟩مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, [SDV]Life Sciences [q-bio], DNA Mutational Analysis, Connexin, 030204 cardiovascular system & hematology, medicine.disease_cause, Connexins, Electrocardiography, Mice, 0302 clinical medicine, whole-exome sequencing, brachyfacial pattern, Atrioventricular Block, Child, Exome sequencing, Mutation, Atrial standstill, Dentofacial Deformities, Middle Aged, Phenotype, 3. Good health, Pedigree, Child, Preschool, Knockout mouse, Disease Progression, Female, Cardiology and Cardiovascular Medicine, Adult, medicine.medical_specialty, Adolescent, Mice, Transgenic, Sick sinus syndrome, 03 medical and health sciences, Young Adult, Cardiac conduction, medicine, Animals, Humans, business.industry, DNA, medicine.disease, Disease Models, Animal, 030104 developmental biology, congenital atrioventricular block, dentodigital dysplasia, business, connexin-45, knockout mice
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المؤلفون: Kayoko Saito, Yuko Sato, Mari Urano, Eri Kondo, Akemi Yamauchi
المصدر: Pediatric Neurology. 50:31-37
مصطلحات موضوعية: Male, medicine.medical_specialty, medicine.drug_class, Prednisolone, Duchenne muscular dystrophy, Gene mutation, Developmental Neuroscience, Adrenal Cortex Hormones, Internal medicine, Natriuretic Peptide, Brain, medicine, Humans, Muscle Strength, Child, Creatine Kinase, Psychomotor Agitation, Retrospective Studies, Intelligence Tests, Psychomotor function, Intelligence quotient, biology, business.industry, medicine.disease, Brain natriuretic peptide, Muscular Dystrophy, Duchenne, Endocrinology, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, biology.protein, Corticosteroid, Female, Creatine kinase, Neurology (clinical), Psychomotor Disorders, business, medicine.drug
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المؤلفون: Kayoko Saito, Reiko Arakawa, Ryoko Aoki, Kaori Kaneko, Mari Urano
المصدر: Braindevelopment. 39(9)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Adolescent, Genotype, Developmental Disabilities, Gene Dosage, SMN1, Motor Activity, Spinal Muscular Atrophies of Childhood, Severity of Illness Index, Statistics, Nonparametric, Intermittent Positive-Pressure Ventilation, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Developmental Neuroscience, Asian People, Internal medicine, Severity of illness, Milestone (project management), medicine, Humans, Genetic Predisposition to Disease, Longitudinal Studies, Young adult, Child, Retrospective Studies, business.industry, Infant, Retrospective cohort study, SMN Complex Proteins, General Medicine, Spinal muscular atrophy, Middle Aged, medicine.disease, SMA, Neuronal Apoptosis-Inhibitory Protein, Clinical trial, 030104 developmental biology, Child, Preschool, Pediatrics, Perinatology and Child Health, Physical therapy, Female, Neurology (clinical), business, 030217 neurology & neurosurgery
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المؤلفون: Miho Takizawa, Makiko Ogata, Kayoko Saito, Risa Ide, Mari Matsuo, Yuko Ono, Katsuya Tanabe, S. Nagata, Kaori Fukawa, Makiko Osawa, Yukio Tanizawa, Motoko Watanabe, Naoko Iwasaki, Mari Urano, Yasuko Uchigata
المصدر: Diabetology International. 5:148-153
مصطلحات موضوعية: medicine.medical_specialty, Wolfram syndrome, business.industry, Endocrinology, Diabetes and Metabolism, Lumen (anatomy), medicine.disease, Exon, Endocrinology, Internal medicine, Diabetes mellitus, Diabetes insipidus, Internal Medicine, medicine, Attention deficit hyperactivity disorder, Sensorineural hearing loss, Sibling, business
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المؤلفون: Shinji Saito, Mari Urano, Hiroshi Sakura, Yasuko Uchigata, Yasuhiko Iwamoto, Kayoko Saito, Junko Oya, Junnosuke Miura, Ko Hanai, Izumi Nyumura, Kyoko Shimura, Tetsuya Babazono, Makoto Funatsuka
المصدر: Diabetology International. 5:69-73
مصطلحات موضوعية: Mechanical ventilation, Central sleep apnea, Central Sleep Apnea Syndrome, business.industry, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, nutritional and metabolic diseases, Sleep apnea, Apnea, medicine.disease, Pericardial effusion, respiratory tract diseases, Obstructive sleep apnea, Heart failure, Anesthesia, Internal Medicine, medicine, medicine.symptom, business
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المؤلفون: Hidefumi Tonoki, Mitsuhiro Kato, Atsushi Ogawa, Jun-ichi Takanashi, Toshiro Nagai, Takashi Enokizono, Nobuhiko Okamoto, Sachiko Kitanaka, Naoko Ito, Eriko Koshimizu, Mustafa Tekin, Naomichi Matsumoto, Takako Fujita, Kayoko Saito, Nobuhiko Ochi, Toshio Makita, Astushi Sato, Ko Ichiro Yoshiura, Hiroyuki Tanaka, Masataka Taguri, Makoto Yoshino, Yoko Hiraki, Yoichi Matsubara, Hirotomo Saitsu, Tomoki Kosho, Mari Urano, Seiji Mizuno, Norio Niikawa, Kenji Ihara, Hirofumi Ohashi, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Yoriko Watanabe, Mari Matsuo, Toshiro Hara, Hiroyo Mabe, Toyojiro Matsuishi, Vorasuk Shotelersuk, Masaya Kubota, Goro Sasaki, Tsutomu Ogata, Tohru Ohta
المصدر: American Journal of Medical Genetics Part A. 161:2234-2243
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Mutation rate, Adolescent, Biology, medicine.disease_cause, Short stature, Young Adult, Mutation Rate, X Chromosome Inactivation, Intellectual disability, Genetics, medicine, Humans, Abnormalities, Multiple, Exome, Child, Genetic Association Studies, Genetics (clinical), Exome sequencing, Histone Demethylases, Mutation, Infant, Newborn, Facies, High-Throughput Nucleotide Sequencing, Infant, Nuclear Proteins, medicine.disease, Hematologic Diseases, Dermatology, Hypotonia, Neoplasm Proteins, DNA-Binding Proteins, Phenotype, Amino Acid Substitution, Vestibular Diseases, Child, Preschool, Face, Female, medicine.symptom, Kabuki syndrome
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