المؤلفون: Valérie Serre, Ruthie Shenhav, Zahra Assouline, Louise Galmiche, Arnold Munnich, Vanessa Vedrenne, Avraham Zeharia, Agnès Rötig, Pascale de Lonlay, Nathalie Boddaert, Anne-Sophie Lebre, Raïssa Zossou, Ann Saada, Marlène Rio, Marine Beinat, Florence Chretien

المصدر: Mitochondrion. 12:242-247

مصطلحات موضوعية: Male, Models, Molecular, Mitochondrial Diseases, Mitochondrial translation, Molecular Sequence Data, Encephalopathy, Mutation, Missense, Respiratory chain, Molecular Dynamics Simulation, Biology, medicine.disease_cause, Mitochondrial Proteins, Pregnancy, Mutant protein, medicine, Humans, Missense mutation, Amino Acid Sequence, Molecular Biology, Gene, Genetic Association Studies, Genetics, Mutation, Infant, Newborn, Brain, Infant, Sequence Analysis, DNA, Cell Biology, Peptide Elongation Factor G, medicine.disease, Magnetic Resonance Imaging, Phenotype, Radiography, Amino Acid Substitution, Molecular Medicine, Brain Damage, Chronic, Female, Mutant Proteins, Liver Failure

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f59256c3d17dbc817071d13428ded5c1
https://doi.org/10.1016/j.mito.2011.09.007

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1c3b76769c6769c18ce999f27ae7376
https://pubmed.ncbi.nlm.nih.gov/14517949

المؤلفون: Naohiro Kurotaki, Naoki Harada, Osamu Shimokawa, Noriko Miyake, Hiroshi Kawame, Kimiaki Uetake, Yoshio Makita, Tatsuro Kondoh, Tsutomu Ogata, Tomoko Hasegawa, Toshiro Nagai, Takao Ozaki, Mayumi Touyama, Ruthie Shenhav, Hirofumi Ohashi, Livija Medne, Takashi Shiihara, Shigeyuki Ohtsu, Zen-ichiro Kato, Nobuhiko Okamoto

المصدر: Human Mutation; Nov2003, Vol. 22 Issue 5, p378, 10p

مصطلحات موضوعية: SYNDROMES, GENES, GENETIC mutation, JAPANESE people, RESEARCH