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1
المؤلفون: Nobuhiko Okamoto, Yonehiro Kanemura, Mami Yamasaki, Tatsuhiko Tsunoda, Atsushi Shimizu, Fuyuki Miya, Shinji Saitoh, Mitsuhiro Kato, Chiharu Torii, Kenjiro Kosaki
المصدر: Clinical Genetics. 88:288-292
مصطلحات موضوعية: Genetics, Microcephaly, Rett syndrome, Biology, medicine.disease, Bioinformatics, PTPN11, Dysmorphic feature, Mutation (genetic algorithm), medicine, biology.protein, Noonan syndrome, GABRD, Genetics (clinical), Loss function
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2
المؤلفون: Keiji Moriyama, Chiharu Torii, Koichiro Higasa, Hideyuki Saya, Atsushi Shimizu, Katsumi Tanito, Ryo Maruoka, Kumiko Misu, Yuichi Yoshida, Kenjiro Kosaki, Fujio Otsuka, Fumihiko Matsuda, Toshiki Takenouchi, Michihito Niimura, Akira Kuramochi, Arihito Ota, Yoshimi Arima
المصدر: Genetic Testing and Molecular Biomarkers. 18:722-735
مصطلحات موضوعية: Male, Neurofibromatosis 1, dbSNP, DNA Mutational Analysis, Biology, medicine.disease_cause, DNA sequencing, Frameshift mutation, Genes, Neurofibromatosis 1, medicine, Humans, Missense mutation, Multiplex, Neurofibromatosis, Gene, Genetics (clinical), Genetics, Mutation, High-Throughput Nucleotide Sequencing, Exons, Original Articles, General Medicine, medicine.disease, Molecular Diagnostic Techniques, Female
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f489e1ea380db2982243867c91365883
https://doi.org/10.1089/gtmb.2014.0109 -
3
المؤلفون: Takao Takahashi, Toshiki Takenouchi, Rika Kosaki, Tomoru Miwa, Kazuo Kishi, Kenjiro Kosaki, Chiharu Torii, Yoshiaki Sakamoto
المصدر: American Journal of Medical Genetics Part A. 164:2869-2872
مصطلحات موضوعية: Male, DNA Mutational Analysis, Complex craniosynostosis, RASopathy, Biology, medicine.disease_cause, Severity of Illness Index, Craniosynostosis, Diagnosis, Differential, Proto-Oncogene Proteins p21(ras), Craniosynostoses, Genetics, medicine, Humans, Four-Dimensional Computed Tomography, Genetics (clinical), Mutation, Noonan Syndrome, Skull, Intracellular Signaling Peptides and Proteins, Facies, medicine.disease, Receptors, Fibroblast Growth Factor, Phenotype, Child, Preschool, Cancer research, Noonan syndrome, Signal transduction, Signal Transduction
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4
المؤلفون: Kazuka Yamamoto, Keisuke Kosaki, Takao Takahashi, Chiharu Torii, Kenjiro Kosaki, Yohei Matsuzaki, Toshiki Takenouchi
المصدر: European Journal of Medical Genetics. 57:298-301
مصطلحات موضوعية: Developmental Disabilities, DNA Mutational Analysis, Mutation, Missense, SOX9, Biology, Diagnosis, Differential, Genetics, medicine, Humans, Collagen Type II, Genetics (clinical), Sequence (medicine), Binding Sites, Collagen Diseases, SOX9 Transcription Factor, General Medicine, medicine.disease, Phenotype, Campomelic dysplasia, Dysplasia, Child, Preschool, Clinical diagnosis, Mutation (genetic algorithm), Collagen disorder, Female, Protein Multimerization
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5
المؤلفون: Tomohiro Ishii, Masaki Takagi, Tomonobu Hasegawa, Kenjiro Kosaki, Chiharu Torii
المصدر: Pituitary. 17:569-574
مصطلحات موضوعية: Male, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Hypopituitarism, Transactivation, Exon, Endocrinology, X Chromosome Inactivation, Chlorocebus aethiops, medicine, Animals, Humans, Abnormalities, Multiple, Child, Gene, Genetics, Combined pituitary hormone deficiency, business.industry, SOXB1 Transcription Factors, Intron, Infant, medicine.disease, Hematologic Diseases, Phenotype, Neoplasm Proteins, Pedigree, DNA-Binding Proteins, Vestibular Diseases, Child, Preschool, Face, COS Cells, Mutation, Female, business, Kabuki syndrome
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6
المؤلفون: Masaki Ohyagi, Rika Kosaki, Takao Takahashi, Chiharu Torii, Kenjiro Kosaki, Toshiki Takenouchi
المصدر: American Journal of Medical Genetics Part A. 167:156-158
مصطلحات موضوعية: Adult, Collagen Type IV, Male, Pathology, medicine.medical_specialty, Molecular Sequence Data, Biology, medicine.disease_cause, Variable Expression, Fathers, Young Adult, Fetus, Aneurysm, Pregnancy, Genetics, medicine, Humans, Missense mutation, Stroke, Genetics (clinical), Muscle Cramp, Mutation, Base Sequence, Infant, Newborn, Infant, Raynaud Disease, medicine.disease, Magnetic Resonance Imaging, Porencephaly, Pedigree, Female, Thenar muscle
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7
المؤلفون: Ryo Maruoka, Jun Maeda, Kenjiro Kosaki, Toshiki Takenouchi, Chiharu Torii, Takao Takahashi, Naoki Oishi, Hideyuki Saito
المصدر: American Journal of Medical Genetics Part A. 161:1733-1736
مصطلحات موضوعية: Male, Marfan syndrome, medicine.medical_specialty, Connective Tissue Disorder, medicine.medical_treatment, Protein Serine-Threonine Kinases, Loeys–Dietz syndrome, Internal medicine, Genetics, medicine, Humans, Continuous positive airway pressure, Craniofacial, Child, Genetics (clinical), Loeys-Dietz Syndrome, Sleep Apnea, Obstructive, business.industry, Receptor, Transforming Growth Factor-beta Type II, Sleep apnea, Apnea, medicine.disease, respiratory tract diseases, Radiography, Obstructive sleep apnea, Mutation, Cardiology, Female, medicine.symptom, business, Receptors, Transforming Growth Factor beta
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8
المؤلفون: Daisuke Ariyasu, Hiroshi Yoshihashi, Midori Awazu, Chiharu Torii, Kenjiro Kosaki, Hironobu Okuno, Toshiki Takenouchi, Rika Kosaki, Suketaka Momoshima, Takao Takahashi, Naoki Harada
المصدر: American Journal of Medical Genetics Part A. :2537-2541
مصطلحات موضوعية: Male, Candidate gene, Ectrodactyly, DNA Copy Number Variations, Cleft Lip, Limb Deformities, Congenital, Chromosome Disorders, Biology, Fingers, Holoprosencephaly, Intellectual Disability, Hypotelorism, Chromosome Duplication, Genetics, medicine, Humans, Child, Genetics (clinical), X chromosome, Chromosomes, Human, X, Comparative Genomic Hybridization, Oral cleft, Lobar holoprosencephaly, medicine.disease, Magnetic Resonance Imaging, Cleft Palate, Hand Deformities, Congenital, Comparative genomic hybridization
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9
المؤلفون: Chiharu Torii, Kenjiro Kosaki, Akira Ishiko, Hirotaka Ohki, Hiroshi Yoshihashi
المصدر: Pediatric Dermatology. 28:550-554
مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, Nonsense mutation, Gonadal dysgenesis, Dermatology, Anatomy, medicine.disease, Cutaneous syndactyly, Focal dermal hypoplasia, PORCN, Atrophy, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Medicine, medicine.symptom, business, Telangiectasia
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10
المؤلفون: Hironobu Okuno, Kenjiro Kosaki, Rika Kosaki, Kosuke Izumi, Katsuhiro Maeyama, Chiharu Torii, Seiji Sato, Toshiyuki Yamamoto, Takao Takahashi
المصدر: American Journal of Medical Genetics Part A. :1028-1032
مصطلحات موضوعية: Genetics, Pathogenesis, medicine, Repressor, Biology, medicine.disease, Haploinsufficiency, Infant newborn, Wolf–Hirschhorn syndrome, Genetics (clinical), Comparative genomic hybridization