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1Academic Journal
المؤلفون: Masatake YAMAUCHI, Naohiko SEKI, Satoshi ISHIKIRIYAMA, Tada-aki HORI
المصدر: The Japanese Journal of Genetics. 1994, 69(3):259
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2
المؤلفون: Noriaki Harada, Keisuke Enomoto, Mitsuo Masuno, Hiroaki Murakami, Naoto Nishimura, Yukiko Kuroda, Kiyoko Sameshima, Tadashi Kaname, Takuya Naruto, Mari Minatogawa, Yoshinori Tsurusaki, Chihiro Abe-Hatano, Shinsuke Ninomiya, Yumi Enomoto, Hiroshi Yoshihashi, Tatsuro Kumaki, Hiroshi Suzumura, Hiroshi Kawame, Makiko Tominaga, Yoshikazu Kuroki, Masahisa Kobayashi, Kenjiro Kosaki, Kenji Kurosawa, Fuminori Iwasaki, Aki Ishikawa, Akane Kondo, Noritaka Furuya, Satoshi Ishikiriyama, Yu Yamaguchi, Ikuko Ohashi, Toshiaki Tanaka, Takayuki Yokoi
المصدر: American Journal of Medical Genetics Part A. 182:2333-2344
مصطلحات موضوعية: Cervical cancer, Mutation, business.industry, medicine.disease, Bioinformatics, Malignancy, medicine.disease_cause, Phenotype, Genotype-phenotype distinction, Osteogenesis imperfecta, Intellectual disability, Genetics, medicine, business, Kabuki syndrome, Genetics (clinical)
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3
المؤلفون: Hiroaki, Murakami, Yoshinori, Tsurusaki, Keisuke, Enomoto, Yukiko, Kuroda, Takayuki, Yokoi, Noritaka, Furuya, Hiroshi, Yoshihashi, Mari, Minatogawa, Chihiro, Abe-Hatano, Ikuko, Ohashi, Naoto, Nishimura, Tatsuro, Kumaki, Yumi, Enomoto, Takuya, Naruto, Fuminori, Iwasaki, Noriaki, Harada, Aki, Ishikawa, Hiroshi, Kawame, Kiyoko, Sameshima, Yu, Yamaguchi, Masahisa, Kobayashi, Makiko, Tominaga, Satoshi, Ishikiriyama, Toshiaki, Tanaka, Hiroshi, Suzumura, Shinsuke, Ninomiya, Akane, Kondo, Tadashi, Kaname, Kenjiro, Kosaki, Mitsuo, Masuno, Yoshikazu, Kuroki, Kenji, Kurosawa
المصدر: American journal of medical genetics. Part AREFERENCES. 182(10)
مصطلحات موضوعية: Adult, Histone Demethylases, Male, Adolescent, Genotype, Uterine Cervical Neoplasms, Hematologic Diseases, Neoplasm Proteins, DNA-Binding Proteins, Genetic Heterogeneity, Young Adult, Phenotype, Vestibular Diseases, Face, Mutation, Humans, Abnormalities, Multiple, Female, Genetic Predisposition to Disease, Genetic Testing
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4
المؤلفون: Kunihiro Kawashima, Makoto Otsu, Hirotaka Fujioka, Tadashi Ariga, Yukio Sakiyama, Katsumi Horiuchi, Kimie Oyama, Satoshi Ishikiriyama, Tsuneki Sugihara, Yuhei Yamamoto
المصدر: Pediatrics International. 50:806-809
مصطلحات موضوعية: Adult, Adolescent, Nonsense mutation, Mutation, Missense, Biology, Frameshift mutation, medicine, Humans, Missense mutation, Deletion mapping, Frameshift Mutation, Polymorphism, Single-Stranded Conformational, Sequence Deletion, Genetics, Alanine, Reverse Transcriptase Polymerase Chain Reaction, Lysine, Infant, Nuclear Proteins, Autosomal dominant trait, Valine, Phosphoproteins, medicine.disease, Molecular biology, Pedigree, Codon, Nonsense, Treacle, Pediatrics, Perinatology and Child Health, Haploinsufficiency, Treacher Collins syndrome, Mandibulofacial Dysostosis
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5
المؤلفون: S Sugama, Yutaka Hase, Nobuyuki Sagehashi, Shintaro Okada, Kikuko Oku, Hiroko Tsukamoto, Jiro Ono, Satoshi Ishikiriyama, Shozo Ohdo, Tomoko Hasegawa, Yuko Endo
المصدر: Clinical Genetics. 50:474-478
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Adolescent, Cell Adhesion Molecules, Neuronal, Chromosome Disorders, Biology, Long arm, Japan, Intellectual Disability, Genetics, medicine, Humans, Abnormalities, Multiple, Jacobsen syndrome, Child, Genetics (clinical), Chromosome Aberrations, medicine.diagnostic_test, Cerebral white matter, Chromosomes, Human, Pair 11, High intensity, Brain, Chromosome, Magnetic resonance imaging, Syndrome, medicine.disease, Phenotype, El Niño, Child, Preschool, Chromosome abnormality, Female, Chromosome Deletion, Psychomotor Disorders
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6
المؤلفون: Hidehiko Kawabata, Nobuhiko Okamoto, Satoshi Ishikiriyama, Yoshinao Wada, Satoru Takahashi
المصدر: Japanese Journal of Human Genetics. 41:431-437
مصطلحات موضوعية: Immunoglobulin gene, Genetics, Mutation, Pathology, medicine.medical_specialty, L1, business.industry, medicine.disease_cause, medicine.disease, nervous system diseases, Frameshift mutation, Hydrocephalus, Exon, Genetic linkage, medicine, Allele, business, Genetics (clinical)
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7
المؤلفون: Kaoru Murata, Masaaki Yamazaki, Hiroshi Shinkai, Yasuhito Fukuzumi, Atsushi Hatamochi, Satoshi Ishikiriyama
المصدر: Journal of Dermatological Science. 33:67-69
مصطلحات موضوعية: Genetics, NSDHL gene, business.industry, Point mutation, Medicine, Dermatology, CHILD syndrome, business, medicine.disease, Molecular Biology, Biochemistry
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8
المؤلفون: Nozomu Sasaki, Hirokazu Sato, Satoshi Ishikiriyama, Shigeki Miyamoto
المصدر: Clinical Pediatric Endocrinology. 3:103-106
مصطلحات موضوعية: medicine.medical_specialty, Pediatrics, business.industry, Endocrinology, Diabetes and Metabolism, Insulin, medicine.medical_treatment, Birth weight, Bone age, medicine.disease, Trunk, Short stature, Growth hormone secretion, Growth hormone deficiency, Endocrinology, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, medicine.symptom, business, Hypopigmentation
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9
المؤلفون: Mizue Iai, Yuzo Tanabe, Satoshi Ishikiriyama
المصدر: American Journal of Medical Genetics. 47:41-44
مصطلحات موضوعية: X Chromosome, Derivative chromosome, Chromosomes, Human, Pair 21, Mosaicism, Chemistry, Center (category theory), Infant, Turner Syndrome, Chromosome, Syndrome, Molecular biology, Translocation, Genetic, X-inactivation, Chromosome Banding, Diagnosis, Differential, X autosome translocation, Dosage Compensation, Genetic, Intellectual Disability, Nucleolus Organizer Region, Humans, Female, Chromosome Deletion, Sex Chromosome Aberrations, Genetics (clinical), X chromosome
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10
المؤلفون: Etsuko Ueta, Yoshiki Sumino, Ichiro Naruse, Masaya Ogawa, Satoshi Ishikiriyama
المصدر: Congenital anomalies. 50(1)
مصطلحات موضوعية: musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Embryology, animal structures, Mutant, Kruppel-Like Transcription Factors, Genes, Recessive, Nerve Tissue Proteins, Biology, Congenital Abnormalities, Mice, Zinc Finger Protein Gli3, GLI3, medicine, Animals, Humans, Abnormalities, Multiple, Gene, Genes, Dominant, Greig cephalopolysyndactyly syndrome, Genetics, Zinc finger, Polydactyly, Pallister-Hall Syndrome, Autosomal dominant trait, Zinc Fingers, General Medicine, medicine.disease, Phenotype, body regions, embryonic structures, Pediatrics, Perinatology and Child Health, Mutation, Syndactyly, Developmental Biology
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المؤلفون: Toshiro Nagai, Hiroshi Kitoh, Hirotomo Saitsu, Takeshi Mizuguchi, Haruya Sakai, Nobuyuki Haga, Shiro Ikegawa, Naomichi Matsumoto, Fumio Takada, Satoshi Ishikiriyama, Takako Ohata, Hotaka Kamasaki, Akira Nishimura, Fumihiko Tanaka
المصدر: American journal of medical genetics. Part A. (7)
مصطلحات موضوعية: Marfan syndrome, Proband, Male, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Fibrillin-2, Fibrillin-1, Receptor, Transforming Growth Factor-beta Type I, Biology, Protein Serine-Threonine Kinases, Fibrillins, Marfan Syndrome, Arachnodactyly, Exon, Genetics, medicine, Humans, Congenital contractural arachnodactyly, Child, Gene, Genetics (clinical), Microfilament Proteins, Intron, Infant, Newborn, Receptor, Transforming Growth Factor-beta Type II, Infant, medicine.disease, Child, Preschool, Female, Abnormality, Receptors, Transforming Growth Factor beta
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12
المصدر: Nihon rinsho. Japanese journal of clinical medicine.
مصطلحات موضوعية: Male, Oculocerebrorenal Syndrome, Chromosomes, Human, Pair 13, Cryptorchidism, Mutation, Humans, Female, Trisomy, Syndrome, Chromosomes, Human, Pair 18, Prognosis, Phosphoric Monoester Hydrolases
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13
المؤلفون: Hiroshi Tamai, Hotaka Kamasaki, Kenji Kurosawa, Tatsuro Nagashima, Yoichi Suzuki, Masue Imaizumi, Hiroshi Kawame, Satoshi Ishikiriyama, Kimio Nishio, Tatsuro Kondoh, Yoko Aoki, Fumio Takada, Masahiro Sakurai, Kunihiro Fujii, Tetsuya Niihori, Tsutomu Yamanaka, Shigeo Kure, Hirofumi Ohashi, Yoichi Matsubara
المصدر: Journal of human genetics. 50(4)
مصطلحات موضوعية: Adult, Male, SH2 Domain-Containing Protein Tyrosine Phosphatases, Childhood leukemia, Adolescent, Mutant, Phosphatase, Protein Tyrosine Phosphatase, Non-Receptor Type 11, Biology, medicine.disease_cause, src Homology Domains, Genetics, medicine, Humans, Child, Genetics (clinical), Mutation, Juvenile myelomonocytic leukemia, Noonan Syndrome, Intracellular Signaling Peptides and Proteins, Infant, medicine.disease, Molecular biology, PTPN11, Leukemia, Phenotype, Leukemia, Myeloid, Child, Preschool, Cancer research, Noonan syndrome, Female, Mitogen-Activated Protein Kinases, Protein Tyrosine Phosphatases
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المصدر: Clinical Pediatric Endocrinology. 4:127-129
مصطلحات موضوعية: medicine.medical_specialty, S syndrome, business.industry, Endocrinology, Diabetes and Metabolism, Chromosomal analysis, Chromosomal translocation, Karyotype, medicine.disease, Growth hormone, Short stature, Growth hormone deficiency, Endocrinology, Internal medicine, Pediatrics, Perinatology and Child Health, Medicine, medicine.symptom, business, GH Deficiency
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المؤلفون: Shigeyuki Ohtsu, Norio Niikawa, Dorit Lev, Satoru Sakazume, Tatsuro Kondoh, Nobuhiko Okamoto, Zen Ichiro Kato, Tohru Ohta, Junji Nishimoto, Osamu Shimokawa, Takao Ozaki, Koh-ichiro Yoshiura, Livija Medne, Takashi Shiihara, Tohru Sonoda, Yoshio Makita, Kenji Kurosawa, Tatsuya Kishino, Noriko Miyake, Jan Fang Cheng, Naomichi Matsumoto, Hirofumi Ohashi, Naohiro Kurotaki, Kimiaki Uetake, Satoshi Ishikiriyama, Tsutomu Ogata, Naoki Harada, Toshiro Nagai, Yoko Miyoshi, Mayumi Touyama, Tomoko Hasegawa, Ruthie Shenhav, Hiroshi Kawame, Yoshimitsu Fukushima
المصدر: Human mutation. 22(5)
مصطلحات موضوعية: Male, DNA Mutational Analysis, Gene mutation, Biology, Polymorphism, Single Nucleotide, Gigantism, Craniofacial Abnormalities, Gene Frequency, Intellectual Disability, Genetics, medicine, Humans, Point Mutation, Allele frequency, Genetics (clinical), In Situ Hybridization, Fluorescence, Repetitive Sequences, Nucleic Acid, Sequence Deletion, Sotos syndrome, Point mutation, Breakpoint, Intracellular Signaling Peptides and Proteins, Chromosome Mapping, Nuclear Proteins, Low copy repeats, Histone-Lysine N-Methyltransferase, Syndrome, medicine.disease, Overgrowth syndrome, Histone Methyltransferases, Chromosomes, Human, Pair 5, Female, Haploinsufficiency, Carrier Proteins
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المؤلفون: Osamu Shimokawa, Masato Tsukahara, Kenji Kurosawa, Tatsuya Kishino, Hirobumi Sugawara, Noriko Miyake, Ko Ichiro Yoshiura, Satoshi Ishikiriyama, Naoki Harada, Tohru Sonoda, Yoko Miyoshi, Yoshimitsu Fukushima, Takashi Shiihara, Hirofumi Ohashi, Naohiro Kurotaki, Mayumi Touyama, Hiroshi Kawame, Nobuhiko Okamoto, Norio Niikawa, Naomichi Matsumoto, Tohru Ohta, Junji Nishimoto, Toshiro Nagai, Satoru Sakazume, Tatsuro Kondoh
مصطلحات موضوعية: Adult, Male, Foot Deformities, Congenital, Molecular Sequence Data, Mothers, Paternity, Biology, Chromatids, Genomic Imprinting, Report, Intellectual Disability, Genetics, medicine, Humans, Genetics(clinical), Abnormalities, Multiple, Genetics (clinical), Sequence Deletion, Chromosome Aberrations, Sotos syndrome, Foot, Point mutation, Haplotype, Macrocephaly, Intracellular Signaling Peptides and Proteins, Chromosome, Nuclear Proteins, Histone-Lysine N-Methyltransferase, Syndrome, medicine.disease, Hand, Pedigree, Haplotypes, Overgrowth syndrome, Histone Methyltransferases, Chromosomes, Human, Pair 5, Chromatid, Female, medicine.symptom, Haploinsufficiency, Carrier Proteins, Hand Deformities, Congenital, Head, Microsatellite Repeats
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المؤلفون: Satoshi Ishikiriyama
المصدر: Clinical Genetics. 36:77-78
مصطلحات موضوعية: Malignant lymphoma, medicine.medical_specialty, Bloom's syndrome, Café au lait spot, Genetics, medicine, Bloom syndrome, Chromosome Fragility, Biology, medicine.symptom, medicine.disease, Dermatology, Genetics (clinical)
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المؤلفون: Mitsuru Kubota, Hirofumi Ohashi, Satoshi Ishikiriyama, Shiro Ikegawa, Gen Nishimura, Akihiko Mabuchi, Eiji Nakashima
المصدر: American Journal of Medical Genetics Part A. :108-109
مصطلحات موضوعية: Male, DNA Mutational Analysis, Mutation, Missense, Cartilage Oligomeric Matrix Protein, Biology, Osteochondrodysplasias, Achondroplasia, Extracellular matrix, Exon, Pseudoachondroplasia, Sequence Homology, Nucleic Acid, Genetics, medicine, Humans, Matrilin Proteins, Amino Acid Sequence, Child, Peptide sequence, Genetics (clinical), Glycoproteins, Sequence Deletion, chemistry.chemical_classification, Extracellular Matrix Proteins, Base Sequence, Exons, Middle Aged, medicine.disease, chemistry, Child, Preschool, Mutation, Mutation (genetic algorithm), Female, Glycoprotein
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19
المؤلفون: Nara T, Yusuke Nakamura, Yoshimitsu Fukushima, Keiko Wakui, Akira Yamagishi, Shin-ichiro Hamano, Satoshi Ishikiriyama, Hirofumi Ohashi
المصدر: American journal of medical genetics. 65(1)
مصطلحات موضوعية: Genetics, Fish analysis, Chromosome Mapping, Infant, Interstitial duplication, Biology, Cosmids, Molecular biology, Chromosome aberration, Chromosome Banding, Chromosome analysis, Gene mapping, Multigene Family, Gene duplication, Cosmid, Fish
, Humans, Female, DNA Probes, Genetics (clinical), In Situ Hybridization, Fluorescence, Chromosomes, Human, Pair 8 -
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المؤلفون: Satoshi Ishikiriyama, Yoshimitsu Fukushima, Hirofumi Ohashi
المصدر: American journal of medical genetics. 45(1)
مصطلحات موضوعية: Male, medicine.medical_specialty, Isochromosome, Buccal swab, In situ hybridization, Biology, Pallister–Killian syndrome, Intellectual Disability, medicine, Humans, Abnormalities, Multiple, Interphase, Genetics (clinical), In Situ Hybridization, Fluorescence, Genetics, Cell Nucleus, Chromosomes, Human, Pair 12, medicine.diagnostic_test, Cytogenetics, Mouth Mucosa, Chromosome, Infant, Syndrome, medicine.disease, Molecular biology, Female, Fluorescence in situ hybridization
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