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1
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 -
2Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous NOG mutation
المؤلفون: Tsutomu Takahashi, Sabine Busse, Thomas Eggermann, Thorsten Schmidt, Klaus Zerres, Jan Senderek, Sabine Rudnik-Schöneborn
المصدر: American journal of medical genetics. Part A. (6)
مصطلحات موضوعية: Male, medicine.medical_specialty, Heterozygote, Mutation, Missense, Biology, Bone remodeling, Craniofacial Abnormalities, Finger Phalanges, Young Adult, Internal medicine, Genetics, medicine, Missense mutation, Humans, Craniofacial, Noggin, Child, Genetics (clinical), Growth Disorders, Brachydactyly, Syndrome, Synostosis, medicine.disease, Phenotype, Pedigree, Radiography, Endocrinology, Mutation (genetic algorithm), Carrier Proteins
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d94c1df0082c18cbc13a9811772f5e53Test
https://pubmed.ncbi.nlm.nih.gov/20503332Test -
3
المؤلفون: Mariana Hasan, Esther Leshinsky-Silver, Yuval Weigl, Nathan Watemberg, Chana Vinkler, Michael Davidovich, Tally Lerman-Sagie, Eva Gak, Dorit Lev
المصدر: American journal of medical genetics. Part A. (9)
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, DNA Mutational Analysis, Molecular Sequence Data, Mutation, Missense, Nerve Tissue Proteins, Blindness, Central nervous system disease, Epilepsy, Genetics, Medicine, Missense mutation, Humans, Eye Proteins, Genetics (clinical), Base Sequence, business.industry, Infant, West Syndrome, medicine.disease, Hypsarrhythmia, Mutation (genetic algorithm), Norrie disease, medicine.symptom, Nervous System Diseases, business, Spasms, Infantile, Retinopathy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6c86c2249954462aa336f7483bdbd1cTest
https://pubmed.ncbi.nlm.nih.gov/17334993Test -
4
المؤلفون: Michael J. Bamshad, Hans van Bokhoven, Ben C.J. Hamel, Lynn B. Jorde, Rick A. Martin, Joep H. A. M. Tuerlings, Virginia K. Proud, Harold Chen, Reha M. Toydemir, Constantine A. Stratakis
المصدر: American journal of medical genetics. Part A. 140(22)
مصطلحات موضوعية: Male, Models, Molecular, medicine.medical_specialty, Mutation, Missense, Pedigree chart, Trismus, Camptodactyly, Internal medicine, Genetics, medicine, Humans, Amino Acid Sequence, Carney complex, Genetics (clinical), Conserved Sequence, Genes, Dominant, Arthrogryposis, Base Sequence, Myosin Heavy Chains, Sequence Homology, Amino Acid, business.industry, Haplotype, Trismus pseudocamptodactyly syndrome, DNA, Syndrome, medicine.disease, Pedigree, Endocrinology, Amino Acid Substitution, Haplotypes, Mutation (genetic algorithm), Female, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c3271b4cb995ae957fd1b126dff8643Test
https://pubmed.ncbi.nlm.nih.gov/17041932Test