المؤلفون: Slavotinek, Anne, Risolino, Maurizio, Losa, Marta, Cho, Megan T, Monaghan, Kristin G, Schneidman-Duhovny, Dina, Parisotto, Sarah, Herkert, Johanna C, Stegmann, Alexander PA, Miller, Kathryn, Shur, Natasha, Chui, Jacqueline, Muller, Eric, DeBrosse, Suzanne, Szot, Justin O, Chapman, Gavin, Pachter, Nicholas S, Winlaw, David S, Mendelsohn, Bryce A, Dalton, Joline, Sarafoglou, Kyriakie, Karachunski, Peter I, Lewis, Jane M, Pedro, Helio, Dunwoodie, Sally L, Selleri, Licia, Shieh, Joseph

المصدر: Human Molecular Genetics. 26(24)

مصطلحات موضوعية: Congenital Structural Anomalies, Pediatric, Stem Cell Research, Clinical Research, Genetics, Stem Cell Research - Embryonic - Non-Human, Kidney Disease, Biotechnology, 2.1 Biological and endogenous factors, Aetiology, Adolescent, Adult, Amino Acid Sequence, Animals, Child, Child, Preschool, Female, Genetic Pleiotropy, Homeodomain Proteins, Humans, Infant, Infant, Newborn, Intellectual Disability, Male, Mice, Pre-B-Cell Leukemia Transcription Factor 1, Pregnancy, Protein Binding, Proto-Oncogene Proteins, Transcription Factors, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/5dk7k8nvTest

المؤلفون: Goodwin, Alice F, Tidyman, William E, Jheon, Andrew H, Sharir, Amnon, Zheng, Xu, Charles, Cyril, Fagin, James A, McMahon, Martin, Diekwisch, Thomas GH, Ganss, Bernhard, Rauen, Katherine A, Klein, Ophir D

المصدر: Human Molecular Genetics. 23(3)

مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Dental/Oral and Craniofacial Disease, Stem Cell Research, Pediatric, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, Underpinning research, 1.1 Normal biological development and functioning, Adolescent, Adult, Ameloblasts, Animals, Case-Control Studies, Cell Polarity, Child, Child, Preschool, Cohort Studies, Costello Syndrome, Dental Enamel, Disease Models, Animal, Enzyme Inhibitors, Female, Humans, Infant, MAP Kinase Kinase Kinase 1, Male, Mice, Mice, Mutant Strains, Microscopy, Electron, Scanning, Phosphatidylinositol 3-Kinases, Phosphoinositide-3 Kinase Inhibitors, Proto-Oncogene Proteins p21(ras), Signal Transduction, Young Adult, Medical and Health Sciences, Genetics & Heredity, Genetics

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/11f867hjTest

المؤلفون: Sandra T. Cooper, David A. Stevenson, Kate G. R. Quinlan, Ute Roessner, Aaron Schindeler, Thusitha T.W. Rupasinghe, David G. Little, Emily R Vasiljevski, Kathy Mikulec, Matthew A. Summers, Lauren Peacock, Frances J. Evesson

المصدر: Human Molecular Genetics. 27:577-588

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Neurofibromatosis 1, Adolescent, Mice, Transgenic, Mass Spectrometry, Mice, Young Adult, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Muscular Diseases, Carnitine, Internal medicine, Genetics, medicine, Animals, Humans, Child, Myopathy, Molecular Biology, Genetics (clinical), Mice, Knockout, Muscle Weakness, Neurofibromin 1, biology, Cholesterol, Fatty Acids, Muscle weakness, Skeletal muscle, Lipid metabolism, General Medicine, Lipid Metabolism, 030104 developmental biology, Endocrinology, medicine.anatomical_structure, chemistry, Child, Preschool, Knockout mouse, Quality of Life, biology.protein, Female, medicine.symptom, 030217 neurology & neurosurgery, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0e831c8e9bbac43cf440366855af6e2Test
https://doi.org/10.1093/hmg/ddx423Test

المؤلفون: Marla Weetall, Nikolai Naryshkin, Karen K. Y. Ling, Hasane Ratni, Chien-Ping Ko, Karen S. Chen, Xin Zhao, Ellen Welch, Friedrich Metzger, Gary Mitchell Karp, Sergey Paushkin, Chunyi Zhou, Zhihua Feng

المصدر: Human Molecular Genetics. 25:964-975

مصطلحات موضوعية: Adult, 0301 basic medicine, Follistatin, Adolescent, RNA Splicing, Genetic Vectors, Myostatin, SMN1, 030105 genetics & heredity, Biology, Bioinformatics, Muscular Atrophy, Spinal, Mice, 03 medical and health sciences, 0302 clinical medicine, Atrophy, Genetics, medicine, Animals, Humans, Immunologic Factors, Age of Onset, Molecular Biology, Genetics (clinical), Motor Neurons, General Medicine, Spinal muscular atrophy, Dependovirus, Motor neuron, medicine.disease, SMA, Survival of Motor Neuron 1 Protein, Muscle atrophy, nervous system diseases, Survival of Motor Neuron 2 Protein, Disease Models, Animal, Phenotype, medicine.anatomical_structure, biology.protein, medicine.symptom, Gene Deletion, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89c5d979e063214e9816d6aa839b535bTest
https://doi.org/10.1093/hmg/ddv629Test

المؤلفون: Aaron B. Bowman, Kevin C. Ess, Laura C. Armstrong, Grant Westlake, Eric A Armour, Bryan Cawthon, John P. Snow

المصدر: Human molecular genetics. 26(23)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Cell type, congenital, hereditary, and neonatal diseases and abnormalities, Heterozygote, Adolescent, Induced Pluripotent Stem Cells, Loss of Heterozygosity, Biology, Tuberous Sclerosis Complex 1 Protein, 03 medical and health sciences, Tuberous Sclerosis, Tuberous Sclerosis Complex 2 Protein, Genetics, medicine, Humans, Kinase activity, RNA, Small Interfering, Induced pluripotent stem cell, Child, Molecular Biology, Genetics (clinical), PI3K/AKT/mTOR pathway, Alleles, TOR Serine-Threonine Kinases, Tumor Suppressor Proteins, Infant, General Medicine, Articles, Fibroblasts, Cellular Reprogramming, Genes, p53, nervous system diseases, 030104 developmental biology, medicine.anatomical_structure, Child, Preschool, Mutation, Cancer research, Female, TSC1, TSC2, Stem cell, Tumor Suppressor Protein p53, Reprogramming, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::452337d109fd03139d4492f020d1a5d1Test
https://pubmed.ncbi.nlm.nih.gov/28973543Test

المؤلفون: Nicole Weisschuh, Charlotte M Reiff, Valerio Marino, Karl-Wilhelm Koch, Silvia Malfatti, Daniele Dell'Orco, Farina Vocke, Samuel G. Jacobson

المصدر: Human molecular genetics. 26(1)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Adolescent, Protein Conformation, Mutant, calcium binding, chemistry.chemical_element, macular dystrophy, guanylate cyclase-activating protein 1 (GCAP1), p.L176F, mutation, Biology, Calcium, Molecular Dynamics Simulation, medicine.disease_cause, 03 medical and health sciences, Macular Degeneration, Young Adult, Mutant protein, Genetics, medicine, Humans, Molecular Biology, Gene, Cyclic GMP, Genetics (clinical), Mutation, Wild type, General Medicine, Macular dystrophy, Middle Aged, Molecular biology, Guanylate Cyclase-Activating Proteins, Pedigree, 030104 developmental biology, chemistry, Biochemistry, Retinal Cone Photoreceptor Cells, Female, Signal transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1703c07c53766292203e7823cb6f684aTest
https://pubmed.ncbi.nlm.nih.gov/28025326Test

المؤلفون: Massimo Mannelli, Alberto Cascón, Aguirre A. de Cubas, Álvaro Gómez-Graña, Carmen Bernal, Iñaki Comino-Méndez, César L. Ramírez-Tortosa, Alessandra Bacca, Veronika Mancikova, Guillermoó Pita, Cristina Rodríguez-Antona, Elena Rapizzi, Susana Pedrinaci, Mercedes Robledo, Giampaolo Bernini, Carolina Sánchez-Malo, Cristina Álvarez-Escolá, Tonino Ercolino, Luis J Leandro-García, María R Alonso, Lucía Inglada-Pérez, Rocío Letón

المصدر: Human Molecular Genetics; Vol 22

مصطلحات موضوعية: Adult, Male, Adolescent, Somatic cell, Egl Nine Homolog 1, Single-nucleotide polymorphism, Pheochromocytoma, Polycythemia, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Paraganglioma, Genetics, medicine, Basic Helix-Loop-Helix Transcription Factors, Humans, Protein Interaction Domains and Motifs, Amino Acid Sequence, Hypoxia, Molecular Biology, Gene, Genetics (clinical), 030304 developmental biology, Aged, Chromosome Aberrations, Paraganglioma, Extra-Adrenal, 0303 health sciences, EPAS1, General Medicine, Middle Aged, medicine.disease, 3. Good health, Gene Expression Regulation, Neoplastic, Hypoxia-inducible factors, 030220 oncology & carcinogenesis, Chromosomes, Human, Pair 2, Mutation, Cancer research, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13467d2094a5bedca0e40bb1b48ca775Test

المؤلفون: Chen Suo, Wan Ting Tay, Rick Twee-Hee Ong, E-Shyong Tai, Mark Seielstad, Kee Seng Chia, Liang Kee Goh, Jianjun Liu, Eranga N. Vithana, Raghavan Lavanya, Peng Chen, Seang-Mei Saw, Renyi Wu, Siyu Han, Tien Yin Wong, Yik Ying Teo, Chiea Chuen Khor, Xueling Sim, Yingfeng Zheng, Qiao Fan, Jeannette Lee, Tin Aung

المصدر: Human Molecular Genetics. 20:3693-3698

مصطلحات موضوعية: Adult, Male, Receptor, Platelet-Derived Growth Factor alpha, Adolescent, Population, Single-nucleotide polymorphism, Genome-wide association study, PDGFRA, Biology, Polymorphism, Single Nucleotide, Corneal Diseases, Cohort Studies, Young Adult, Asian People, Genetic variation, Genetics, Humans, SNP, Genetic Predisposition to Disease, Genetic variability, Child, education, Molecular Biology, Genetics (clinical), Aged, Genetic association, Singapore, education.field_of_study, TOR Serine-Threonine Kinases, Genetic Variation, General Medicine, Middle Aged, Chromosomes, Human, Pair 1, Female, Chromosomes, Human, Pair 4, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ca398dec4ee5c1a7cf557776efdb97eTest
https://doi.org/10.1093/hmg/ddr269Test

المؤلفون: Bénédicte Gérard, Guylène Bertrand, Laurence M. Boon, Bernard Grandchamp, Christiane Rouyer, Vinciane Wouters, Caroline Silve, Miikka Vikkula, Alain Couvineau

المساهمون: UCL - SSS/IREC/CHEX - Pôle de chirgurgie expérimentale et transplantation, UCL - SSS/DDUV - Institut de Duve, UCL - (SLuc) Service de chirurgie plastique

المصدر: Human Molecular Genetics, Vol. 17, no. 18, p. 2766-75 (2008)

مصطلحات موضوعية: Adult, Male, Adolescent, Receptor expression, Molecular Sequence Data, Mutation, Missense, CHO Cells, medicine.disease_cause, Cercopithecus aethiops, Cohort Studies, Cricetulus, Cricetinae, Chlorocebus aethiops, Cyclic AMP, Genetics, Enchondromatosis, medicine, GNAS complex locus, Enchondroma, Animals, Humans, Missense mutation, Child, Molecular Biology, Ollier disease, Genetics (clinical), Receptor, Parathyroid Hormone, Type 1, Mutation, biology, Articles, General Medicine, Middle Aged, medicine.disease, Protein Structure, Tertiary, Maffucci syndrome, Parathyroid Hormone, COS Cells, biology.protein, Female, Chondroma, Protein Binding, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1581827831280250e93078b6ed222e28Test
https://doi.org/10.1093/hmg/ddn176Test

المؤلفون: Heike Vogel, Matthias Blüher, Hans-Georg Joost, Nora Klöting, Verena Benz, Timo Kanzleiter, Stephan Scherneck, Reinhart Kluge, Annette Schürmann, Sergiy Kryvych, Mandy Stadion

المصدر: Human molecular genetics. 21(17)

مصطلحات موضوعية: Adult, Positional cloning, Adolescent, 5' Flanking Region, Adipose Tissue, White, Quantitative Trait Loci, Congenic, Adipose tissue, Mice, Obese, Transcriptome, Mice, Young Adult, 11β-hydroxysteroid dehydrogenase type 1, 11-beta-Hydroxysteroid Dehydrogenase Type 1, Genetics, Animals, Humans, Obesity, RNA, Messenger, Allele, Molecular Biology, Genetics (clinical), Aged, Regulation of gene expression, Aged, 80 and over, Recombination, Genetic, biology, Gene Expression Profiling, Body Weight, Intracellular Signaling Peptides and Proteins, General Medicine, Exons, Middle Aged, Molecular biology, Gene expression profiling, Mice, Inbred C57BL, Gene Expression Regulation, Chromosomes, Human, Pair 1, Multigene Family, biology.protein, Chromosome Deletion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39381a7f42dd2cf06ded03f9e154c237Test
https://pubmed.ncbi.nlm.nih.gov/22692684Test