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11
المؤلفون: Takuya Naruto, Yumi Enomoto, Yukiko Kuroda, Kenji Kurosawa, Toshiyuki Saito, Kazumi Ida, Jun-ichi Nagai, Takahito Wada, Ikuko Ohashi
المصدر: American journal of medical genetics. Part A. 167(6)
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Heterozygote, X-linked intellectual disability, Mutation, Missense, Gene Expression, Nerve Tissue Proteins, medicine.disease_cause, Epilepsy, symbols.namesake, Genes, X-Linked, Intellectual Disability, Intellectual disability, Genetics, medicine, Congenital Hypothyroidism, Humans, Sibling, Autistic Disorder, Genetics (clinical), Alleles, Sanger sequencing, Mutation, business.industry, Homozygote, High-Throughput Nucleotide Sequencing, medicine.disease, Hypotonia, Pedigree, Phenotype, Child, Preschool, symbols, Muscle Hypotonia, medicine.symptom, business, Nephrotic syndrome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e11471f80d7223d0ad0f2fac7de9a8eTest
https://pubmed.ncbi.nlm.nih.gov/25900396Test -
12
المؤلفون: William E. Benitz, Rachel K. Hopper, Jeffrey A. Feinstein, Melanie A. Manning, Louanne Hudgins
المصدر: American journal of medical genetics. Part A. (4)
مصطلحات موضوعية: MAPK/ERK pathway, Male, medicine.medical_specialty, Heterozygote, Hypertension, Pulmonary, DNA Mutational Analysis, Mutation, Missense, medicine.disease_cause, Dephosphorylation, Fatal Outcome, Internal medicine, Genetics, medicine, Humans, Genetics (clinical), Genetic Association Studies, Mutation, business.industry, Kinase, Vascular disease, Noonan Syndrome, Hypertrophic cardiomyopathy, Infant, medicine.disease, Proto-Oncogene Proteins c-raf, Endocrinology, Cancer research, Noonan syndrome, Signal transduction, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa6f7e66b9c9f8c0c7de7fc83476bf6eTest
https://pubmed.ncbi.nlm.nih.gov/25706034Test -
13
المؤلفون: Margherita Silengo, Cesare Rossi, Elena Banaudi, Marco Tartaglia, Giovanni Battista Ferrero, Giuseppina Baldassarre, Alessandro Mussa
المصدر: American journal of medical genetics. Part A. (12)
مصطلحات موضوعية: Heart Defects, Congenital, Male, medicine.medical_specialty, Mutation, Missense, RAS/MAPK, SHOC2, noonan syndrome, rasopathies, Biology, medicine.disease_cause, Loose Anagen Hair Syndrome, Internal medicine, Intellectual Disability, Genetics, medicine, Missense mutation, Humans, Genetics (clinical), Regulation of gene expression, Mutation, Noonan Syndrome, Intracellular Signaling Peptides and Proteins, Electroencephalography, medicine.disease, Phenotype, Magnetic Resonance Imaging, Developmental disorder, Endocrinology, Italy, Dysplasia, Noonan syndrome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::446a1c3379a4cecc5fcab168f799da00Test
https://pubmed.ncbi.nlm.nih.gov/25331583Test -
14
المؤلفون: April N. Meyer, Daniel J. Donoghue, Thomas W. Prior, Kandamurugu Manickam, Pamela J. Snyder
المصدر: American journal of medical genetics. Part A. (1)
مصطلحات موضوعية: musculoskeletal diseases, medicine.medical_specialty, Nonsense mutation, DNA Mutational Analysis, Mutation, Missense, Gene Expression, Hypochondroplasia, Biology, Bone and Bones, Achondroplasia, Cell Line, Internal medicine, Genetics, medicine, Missense mutation, Humans, Receptor, Fibroblast Growth Factor, Type 3, Kinase activity, Phosphorylation, SADDAN, Codon, Acanthosis nigricans, Genetics (clinical), Infant, medicine.disease, Radiography, Endocrinology, Phenotype, Amino Acid Substitution, Mutation (genetic algorithm), Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a308e3e92d4b9158c92bb44e10ac480Test
https://pubmed.ncbi.nlm.nih.gov/24352917Test -
15
المؤلفون: Keiji Yunoki, Yutaka Nishimura, Michiko Hayashidani, Nobuhiko Okamoto, Hiroo Matsuura, Gen Nishimura, Hiroko Yofune, Naomichi Matsumoto, Masahiro Kamada, Noriko Miyake, Akira Murakami, Yoko Hiraki, Takuji Kawagoe, Yoshinori Tsurusaki, Mitsuko Nakashima, Hirotomo Satisu, Satoko Miyatake
المصدر: American journal of medical genetics. Part A. (1)
مصطلحات موضوعية: Cantú syndrome, Hypertrichosis, Adult, Male, medicine.medical_specialty, Pathology, DNA Mutational Analysis, Mutation, Missense, Cardiomegaly, Osteochondrodysplasias, Sulfonylurea Receptors, Craniosynostosis, ABCC9, Aortic aneurysm, Craniosynostoses, Internal medicine, Genetics, medicine, Missense mutation, Humans, Amino Acid Sequence, Genetics (clinical), Aortic Aneurysm, Thoracic, Base Sequence, business.industry, Skeletal muscle, Brain, Facies, Genetic Diseases, X-Linked, Syndrome, medicine.disease, Magnetic Resonance Imaging, Aortic Aneurysm, Radiography, Endocrinology, medicine.anatomical_structure, Phenotype, Overgrowth syndrome, Child, Preschool, Mutation, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30968566a3fea95cb63b47212f1aa493Test
https://pubmed.ncbi.nlm.nih.gov/24352916Test -
16
المؤلفون: Maria Cristina Digilio, Luca, Ad, Alessandro De Luca, Francesca, Lepri, Valentina, Guida, Rosangela, Ferese, Maria Lisa Dentici, Adriano, Angioni, MARINO TAUSSIG DE BODONIA, Bruno, DALLA PICCOLA, Bruno, Bruno, Marino, Bruno, Dallapiccola
المصدر: American journal of medical genetics. Part A. (12)
مصطلحات موضوعية: TBX1, Heart Defects, Congenital, Male, medicine.medical_specialty, Pathology, JAG1, jag1 gene, Mutation, Missense, Biology, Gene mutation, medicine.disease_cause, Internal medicine, Alagille syndrome, Genetics, medicine, DiGeorge Syndrome, Missense mutation, Humans, Serrate-Jagged Proteins, digeorge/velo-cardio-facial syndrome, Child, Genetics (clinical), Tetralogy of Fallot, Mutation, deletion 22q11.2, Calcium-Binding Proteins, Membrane Proteins, tetralogy of fallot, alagille syndrome, medicine.disease, Alagille Syndrome, Endocrinology, Speech delay, Intercellular Signaling Peptides and Proteins, medicine.symptom, T-Box Domain Proteins, Jagged-1 Protein
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::827f02c0ea20e7bfe8fbcb8ae898d8ceTest
https://pubmed.ncbi.nlm.nih.gov/23956173Test -
17
المؤلفون: Valentina Tono, Andrea Biondi, Paola Cianci, Angelo Selicorni, Laura Locatelli, Alessandra Sala, Claudio Carta, Carmelo Rizzari
المساهمون: Cianci, P, Tono, V, Sala, A, Locatelli, L, Carta, C, Rizzari, C, Biondi, A, Selicorni, A
المصدر: American journal of medical genetics. Part A. (6)
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Mutation, Missense, Gene mutation, medicine.disease_cause, Asymptomatic, immune system diseases, Cervical lymphadenopathy, hemic and lymphatic diseases, Biopsy, Genetics, medicine, Missense mutation, Humans, Child, Genetics (clinical), Genetic Association Studies, Mutation, medicine.diagnostic_test, business.industry, Noonan Syndrome, medicine.disease, Burkitt Lymphoma, Burkitt lymphoma, Noonan syndrome, RAF1, Lymphoma, Proto-Oncogene Proteins c-raf, Amino Acid Substitution, Immunology, Noonan syndrome, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::995e593d291091d8684d5e0a8be0a69dTest
https://pubmed.ncbi.nlm.nih.gov/23613113Test -
18
المؤلفون: Stefania Errico, Gustavo Savino, Giuseppe Albertini, Enrico Albertini, Marco Pavanello, Livia Garavelli, Caterina Longo, Chiara Greco, Chiara Gelmini, Karl Heinz Grzeschik, Simonetta Rosato, Anita Wischmeijer, Rudolf Happle, Andrea Superti-Furga, Graziella Simonte, Sheila Unger, Elisa Guareschi
المصدر: American journal of medical genetics. Part A. (7)
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Goltz–Gorlin syndrome, FDH, Mutation, Missense, cystic malformation of the spinal cord, medicine.disease_cause, Spinal Cord Diseases, Pregnancy, Genetics, medicine, Missense mutation, Humans, Microphthalmos, PORCN gene, Genetics (clinical), focal dermal hypoplasia, Mutation, business.industry, Cysts, Cystic malformation of the spinal cord, Focal dermal hypoplasia, Goltz-Gorlin syndrome, Dural ectasia, Settore MED/30 - MALATTIE APPARATO VISIVO, Infant, Newborn, Infant, Membrane Proteins, Anatomy, medicine.disease, Spinal cord, PORCN, Focal Dermal Hypoplasia, medicine.anatomical_structure, Orbital cyst, Child, Preschool, Female, business, Acyltransferases
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2795bdbf92e5541e21d0618180602d62Test
https://pubmed.ncbi.nlm.nih.gov/23696273Test -
19
المؤلفون: Pavni Mehrotra, Tracy L. Prosen, James C. Hyland, Anne Slavotinek, Meg Eilers, Ben Li, Tara Holm, Jacob Hogue
المصدر: American journal of medical genetics. Part A. (3)
مصطلحات موضوعية: Male, medicine.medical_specialty, Filamins, Mutation, Missense, Osteochondrodysplasias, Ultrasonography, Prenatal, Bilateral talipes equinovarus, Pulmonary hypoplasia, Contractile Proteins, Fatal Outcome, Pectus excavatum, Pregnancy, Genetics, medicine, Humans, FLNB, Hypertelorism, Genetics (clinical), business.industry, Brachydactyly, Microfilament Proteins, Infant, Newborn, Anatomy, medicine.disease, Hypoplasia, Surgery, Radiography, Premature Birth, Female, medicine.symptom, Laryngeal Stenosis, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a003005091425f10f5f7f1ccbcff108Test
https://pubmed.ncbi.nlm.nih.gov/23401428Test -
20
المؤلفون: Gen Nishimura, Jong Hee Chae, Kazu Matsumoto, Virginia Fano, Soledad Monges, Ok Hwa Kim, Bernhard Zabel, Katsuji Shimizu, Won Joon Yoo, Iori Takigami, Yuji Tanaka, Shiro Ikegawa, Tae Joon Cho, Jin Dai, Yoshito Matsui, Ekkehart Lausch
المصدر: American journal of medical genetics. Part A. (4)
مصطلحات موضوعية: TRPV4, Pathology, medicine.medical_specialty, Adolescent, Mutation, Missense, TRPV Cation Channels, medicine.disease_cause, Genetics, medicine, Missense mutation, Humans, Child, Genetics (clinical), Genetic Association Studies, Spondyloepimetaphyseal dysplasia, Mutation, Bone Diseases, Developmental, business.industry, Peripheral Nervous System Diseases, Spinal muscular atrophy, medicine.disease, Peripheral neuropathy, Dysplasia, Child, Preschool, Female, business, Hereditary motor and sensory neuropathy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::281128f90d565650dd6600ef31a93d13Test
https://pubmed.ncbi.nlm.nih.gov/22419508Test