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

URL الوصول: https://escholarship.org/uc/item/61z468bp

المؤلفون: Wang, Xiao, Wang, Zhijie, Pengetnze, Yolande M., Lachman, Barry S., Chowdhry, Vikas

مصطلحات موضوعية: Statistics - Machine Learning, Computer Science - Machine Learning, Statistics - Applications

URL الوصول: http://arxiv.org/abs/1907.11195

المؤلفون: Tan, Queenie K-G, Cope, Heidi, Spillmann, Rebecca C, Stong, Nicholas, Jiang, Yong-Hui, McDonald, Marie T, Rothman, Jennifer A, Butler, Megan W, Frush, Donald P, Lachman, Ralph S, Lee, Brendan, Bacino, Carlos A, Bonner, Melanie J, McCall, Chad M, Pendse, Avani A, Walley, Nicole, Undiagnosed Diseases Network, Shashi, Vandana, Pena, Loren DM

المصدر: Cold Spring Harbor molecular case studies. 4(5)

مصطلحات موضوعية: Undiagnosed Diseases Network, Humans, Osteochondrodysplasias, Exocrine Pancreatic Insufficiency, Bone Marrow Diseases, Lipomatosis, GTP Phosphohydrolases, Proteins, Ribonucleoprotein, U5 Small Nuclear, Peptide Elongation Factors, Phenotype, Mutation, Adolescent, Female, Genetic Variation, Shwachman-Diamond Syndrome, Exome Sequencing, congenital thrombocytopenia, exocrine pancreatic insufficiency, hepatic bridging fibrosis, hypercalciuria, intellectual disability, mild, portal fibrosis, short stature, spondylometaphyseal dysplasia, Clinical Research, Brain Disorders, Human Genome, Genetics, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Whole Exome Sequencing

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0x70z6sn

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

URL الوصول: https://escholarship.org/uc/item/7cc8133r

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

URL الوصول: https://escholarship.org/uc/item/91w3v7fx

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

URL الوصول: https://escholarship.org/uc/item/15b5v6hs

المؤلفون: Grosman, B., Lachman-Shalem, S., Swissa, R., Lewin, D.R.

المصدر: IEEE Transactions on Semiconductor Manufacturing IEEE Trans. Semicond. Manufact. Semiconductor Manufacturing, IEEE Transactions on. 18(1):86-93 Feb, 2005

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

URL الوصول: https://escholarship.org/uc/item/4nd2x1gp

المؤلفون: Lachman-Shalem, S., Grosman, B., Lewin, D.R.

المصدر: IEEE Transactions on Semiconductor Manufacturing IEEE Trans. Semicond. Manufact. Semiconductor Manufacturing, IEEE Transactions on. 15(3):310-322 Aug, 2002

المؤلفون: Lachman-Shalem, S., Haimovitch, N., Shauly, E.N., Lewin, D.R.

المصدر: IEEE Transactions on Semiconductor Manufacturing IEEE Trans. Semicond. Manufact. Semiconductor Manufacturing, IEEE Transactions on. 15(1):60-70 Feb, 2002