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1دورية أكاديمية
المؤلفون: Barad, Maya, Csukasi, Fabiana, Bosakova, Michaela, Martin, Jorge H, Zhang, Wenjuan, Taylor, S Paige, Lachman, Ralph S, Zieba, Jennifer, Bamshad, Michael, Nickerson, Deborah, Chong, Jessica X, Cohn, Daniel H, Krejci, Pavel, Krakow, Deborah, Duran, Ivan
مصطلحات موضوعية: Epidemiology, Biomedical and Clinical Sciences, Clinical Sciences, Health Sciences, Genetics, Aetiology, 2.1 Biological and endogenous factors, Musculoskeletal, Alleles, Bone Diseases, Developmental, Bone and Bones, Cell Adhesion, Chondrocytes, DNA Mutational Analysis, Focal Adhesion Kinase 2, Genetic Association Studies, Genetic Predisposition to Disease, Humans, Laminin, Mutation, Phenotype, Signal Transduction, Wnt Signaling Pathway, src-Family Kinases, Laminin alpha 5, LAMA5, Skeletal dysplasia, Bent bone, beta 1 integrin, Laminin α5, β1 integrin, Public Health and Health Services, Clinical sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/61z468bpTest
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2دورية أكاديمية
المؤلفون: Tan, Queenie, Cope, Heidi, Spillmann, Rebecca, Stong, Nicholas, Jiang, Yong-Hui, McDonald, Marie, Rothman, Jennifer, Butler, Megan, Frush, Donald, Lachman, Ralph, Lee, Brendan, Bacino, Carlos, Bonner, Melanie, McCall, Chad, Pendse, Avani, Walley, Nicole, Shashi, Vandana, Pena, Loren
المصدر: Cold Spring Harbor Molecular Case Studies. 4(5)
مصطلحات موضوعية: congenital thrombocytopenia, exocrine pancreatic insufficiency, hepatic bridging fibrosis, hypercalciuria, intellectual disability, mild, portal fibrosis, short stature, spondylometaphyseal dysplasia, Adolescent, Bone Marrow Diseases, Exocrine Pancreatic Insufficiency, Female, GTP Phosphohydrolases, Genetic Variation, Humans, Lipomatosis, Mutation, Osteochondrodysplasias, Peptide Elongation Factors, Phenotype, Proteins, Ribonucleoprotein, U5 Small Nuclear, Shwachman-Diamond Syndrome, Exome Sequencing
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/60h825g3Test
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3دورية أكاديمية
المؤلفون: Garza Flores, Alexandra, Nordgren, Ida, Pettersson, Maria, Dias-Santagata, Dora, Nilsson, Daniel, Hammarsjö, Anna, Lindstrand, Anna, Batkovskyte, Dominyka, Wiggs, Janey, Walton, David S., Goldenberg, Paula, Eisfeldt, Jesper, Lin, Angela E., Lachman, Ralph S., Nishimura, Gen, Grigelioniene, Giedre
المصدر: Frontiers in Genetics ; volume 14 ; ISSN 1664-8021
مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Medicine
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4دورية أكاديمية
المؤلفون: Bhattacharya, Sanchita, Li, Jian, Sockell, Alexandra, Kan, Matthew J, Bava, Felice A, Chen, Shann-Ching, Ávila-Arcos, María C, Ji, Xuhuai, Smith, Emery, Asadi, Narges B, Lachman, Ralph S, Lam, Hugo YK, Bustamante, Carlos D, Butte, Atul J, Nolan, Garry P
المصدر: Genome Research. 28(4)
مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Congenital Structural Anomalies, Human Genome, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Musculoskeletal, Animals, DNA, Ancient, Female, Genome, Human, High-Throughput Nucleotide Sequencing, Humans, INDEL Mutation, Molecular Sequence Annotation, Mutation, Osteochondrodysplasias, Phenotype, Polymorphism, Single Nucleotide, Whole Genome Sequencing, Medical and Health Sciences, Bioinformatics
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/7cc8133rTest
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5دورية أكاديمية
المؤلفون: Krakow, Deborah, Cohn, Daniel H, Wilcox, William R, Noh, Grace J, Raffel, Leslie J, Sarukhanov, Anna, Ivanova, Margarita H, Danielpour, Moise, Grange, Dorothy K, Elliott, Alison M, Bernstein, Jonathan A, Rimoin, David L, Merrill, Amy E, Lachman, Ralph S
المصدر: American Journal of Medical Genetics Part A. 170(10)
مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Rare Diseases, Dental/Oral and Craniofacial Disease, Clinical Research, Pediatric, 2.1 Biological and endogenous factors, Aetiology, Alleles, Amino Acid Substitution, Clavicle, Facies, Female, Finger Phalanges, Genotype, Humans, Male, Mutation, Osteochondrodysplasias, Phenotype, Pregnancy, Pregnancy Outcome, Prenatal Diagnosis, Radiography, Receptor, Fibroblast Growth Factor, Type 2, Registries, skeletal dysplasia, FGFR2, craniosynostosis, bent bone dysplasia, Clinical Sciences, Clinical sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/91w3v7fxTest
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6دورية أكاديمية
المؤلفون: Zhang, Wenjuan, Taylor, S Paige, Nevarez, Lisette, Lachman, Ralph S, Nickerson, Deborah A, Bamshad, Michael, Consortium, University of Washington Center for Mendelian Genomics, Krakow, Deborah, Cohn, Daniel H
المصدر: Human Molecular Genetics. 25(18)
مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Rare Diseases, Pediatric, Generic health relevance, Carrier Proteins, Cilia, Ciliopathies, Cytoskeletal Proteins, Flagella, Humans, Intracellular Signaling Peptides and Proteins, Multiprotein Complexes, Muscle Proteins, Mutation, Short Rib-Polydactyly Syndrome, Skeleton, Tumor Suppressor Proteins, University of Washington Center for Mendelian Genomics Consortium, Medical and Health Sciences, Genetics & Heredity, Genetics
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/15b5v6hsTest
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7دورية أكاديمية
المؤلفون: Taylor, S Paige, Dantas, Tiago J, Duran, Ivan, Wu, Sulin, Lachman, Ralph S, University of Washington Center for Mendelian Genomics Consortium, Nelson, Stanley F, Cohn, Daniel H, Vallee, Richard B, Krakow, Deborah
المصدر: Nature communications. 6(1)
مصطلحات موضوعية: University of Washington Center for Mendelian Genomics Consortium, Cilia, Flagella, Cytoskeleton, Fibroblasts, Humans, Short Rib-Polydactyly Syndrome, Pedigree, Biological Transport, Mutation, Female, Male, Hedgehog Proteins, Cytoplasmic Dyneins, Clinical Research, Polycystic Kidney Disease, Congenital Structural Anomalies, Rare Diseases, Kidney Disease, Pediatric, Genetics, 2.1 Biological and endogenous factors
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/4nd2x1gpTest
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8دورية أكاديمية
المؤلفون: Harmatz, Paul R, Garcia, Paula, Guffon, Nathalie, Randolph, Linda M, Shediac, Renée, Braunlin, Elizabeth, Lachman, Ralph S, Decker, Celeste
المصدر: Journal of Inherited Metabolic Disease. 37(2)
مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Patient Safety, Clinical Research, Pediatric, Clinical Trials and Supportive Activities, Prevention, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, Dose-Response Relationship, Drug, Drug Administration Schedule, Enzyme Replacement Therapy, Humans, Infant, Infusions, Intravenous, Male, Mucopolysaccharidosis VI, N-Acetylgalactosamine-4-Sulfatase, Recombinant Proteins, Genetics & Heredity, Genetics, Clinical sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/3h57916nTest
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9دورية أكاديمية
المؤلفون: Garza Flores, Alexandra, Nordgren, Ida, Pettersson, Maria, Dias-Santagata, Dora, Nilsson, Daniel, Hammarsjö, Anna, Lindstrand, Anna, Batkovskyte, Dominyka, Wiggs, Janey, Walton, David S., Goldenberg, Paula, Eisfeldt, Jesper, Lin, Angela E., Lachman, Ralph S., Gen Nishimura, Grigelioniene, Giedre
المصدر: Frontiers in Genetics; 2023, p01-08, 8p
مصطلحات موضوعية: FORKHEAD transcription factors, JOINT hypermobility, JOINT instability, SHORT stature, SKELETAL abnormalities, SYNDROMES
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10دورية أكاديمية
المؤلفون: Zieba, Jennifer, Zhang, Wenjuan, Chong, Jessica X., Forlenza, Kimberly N., Martin, Jorge H., Heard, Kelly, Grange, Dorothy K., Butler, Merlin G., Kleefstra, Tjitske, Lachman, Ralph S., Nickerson, Deborah, Regnier, Michael, Cohn, Daniel H., Bamshad, Michael, Krakow, Deborah
المصدر: Scientific Reports ; volume 7, issue 1 ; ISSN 2045-2322
مصطلحات موضوعية: Multidisciplinary
الإتاحة: https://doi.org/10.1038/srep41803Test
https://www.nature.com/articles/srep41803.pdfTest
https://www.nature.com/articles/srep41803Test