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المؤلفون: Roger E. Schultz, Michal Tavrovsky
المصدر: Journal of Urology. 206
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Urology, medicine, business
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2
المؤلفون: Denise I. Quigley, Timothy Tidwell, Brandon Chandler, Erica F. Andersen, Roger A. Schultz, Zoe K Lewis, Allen N. Lamb, Patricia Mowery-Rushton, Xinjie Xu, Adam L. Clayton, Reha M. Toydemir, Julie L Cox, Bo Hong
المصدر: Cancer Genetics. :S15
مصطلحات موضوعية: Cancer Research, Process (engineering), Genetics, Computational biology, Copy-number variation, Biology, Molecular Biology
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3
المؤلفون: Megan E. Tucker, Luis F. Escobar, David Chitayat, Nicholas J. Neill, Beth S. Torchia, Roger A. Schultz, Karen Chong, Jill A. Rosenfeld, Lisa D McDaniel
المصدر: Ultrasound in Obstetrics & Gynecology. 46:478-486
مصطلحات موضوعية: Pregnancy, Pathology, medicine.medical_specialty, Radiological and Ultrasound Technology, business.industry, Obstetrics and Gynecology, Aneuploidy, Gestational age, Prenatal diagnosis, General Medicine, medicine.disease, Miscarriage, Reproductive Medicine, medicine, Radiology, Nuclear Medicine and imaging, Clinical significance, business, SNP array, Comparative genomic hybridization
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المؤلفون: Justin Overhoff, Jill A. Rosenfeld, Jay W. Ellison, Lynne M. Bird, Roger A. Schultz, Karla Haynes, Lisa G. Shaffer, Marina Rabideau, Daniela N. Schweitzer
المصدر: American Journal of Medical Genetics Part A. 164:259-263
مصطلحات موضوعية: Male, business.industry, Brain, Facies, Infant, Computational biology, Blepharophimosis, medicine.disease, Magnetic Resonance Imaging, Craniofacial Abnormalities, Phenotype, Text mining, Nablus mask-like facial syndrome, Genetics, Humans, Medicine, Abnormalities, Multiple, Chromosome Deletion, Child, business, Genetic Association Studies, Genetics (clinical), Chromosomes, Human, Pair 8
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المؤلفون: Mark Fesler, Roger A. Schultz, Jacqueline R. Batanian, Raymond R. Tubbs, Blake C. Ballif, Heesun J. Rogers, Aaron M. Gruver, James R. Cook
المصدر: Diagnostic Molecular Pathology. 22:10-21
مصطلحات موضوعية: Male, Acute promyelocytic leukemia, Receptors, Retinoic Acid, Translocation Breakpoint, Chromosomal translocation, Promyelocytic Leukemia Protein, Biology, Translocation, Genetic, Pathology and Forensic Medicine, Young Adult, Promyelocytic leukemia protein, Leukemia, Promyelocytic, Acute, immune system diseases, medicine, Humans, Pathology, Molecular, neoplasms, Molecular Biology, Gene Rearrangement, Genetics, Comparative Genomic Hybridization, medicine.diagnostic_test, Retinoic Acid Receptor alpha, Tumor Suppressor Proteins, Nuclear Proteins, Cell Biology, Gene rearrangement, Middle Aged, medicine.disease, Retinoic acid receptor alpha, biology.protein, Female, Transcription Factors, Comparative genomic hybridization, Fluorescence in situ hybridization
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e86edf03ad77a11b2a0140a66cb40b7
https://doi.org/10.1097/pdm.0b013e31825b8326 -
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المؤلفون: Hans Lehrach, Roger A. Schultz, Zdenek Trachtulec, Elsy P. Jones, Hong Xiao, Kirsten Fischer Lindahl, Zoia Larin, Lorraine Flaherty, Vladimir Vincek
مصطلحات موضوعية: Genetic Markers, Male, Yeast artificial chromosome, Molecular Sequence Data, Genes, MHC Class I, Biology, Restriction fragment, Mice, Gene mapping, Centromere, Genetics, Animals, Chromosomes, Artificial, Yeast, Genomic organization, Mice, Inbred BALB C, Mice, Inbred C3H, Base Sequence, Contig, MHC Class I Gene, H-2 Antigens, Chromosome Mapping, food and beverages, Mice, Inbred C57BL, Chromosome 17 (human), biology.protein, Female
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d711bead226e1e2fc4f0f5bdd68c8e6c
https://doi.org/10.1006/geno.1995.1006 -
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المؤلفون: Michael E. Talkowski, Blake C. Ballif, Roger A. Schultz, Patricia I. Bader, Susan Sell, Zheng Fan, James F. Gusella, Debra J Keelean-Fuller, Suneeta Madan-Khetarpal, Loren Mackay-Loder, Deborah Terespolsky, Urvashi Surti, Jill Pouncey, Santhosh Girirajan, Marilyn C. Jones, Bénédicte Héron‐Longe, Ian Blumenthal, Kenneth N. Rosenbaum, Maria Descartes, Jill A. Rosenfeld, Cynthia C. Morton, Evan E. Eichler, Gwen M. Glew, Alain Verloes, Amy Shealy, Sandrine Passemard, Brigitte Benzacken, Cathy A. Stevens, Eva Pipiras, Nicholas J. Neill, Roger L. Ladda, Rocio Moran, Lisa G. Shaffer, John B. Moeschler, Allen N. Lamb, Judith A. Martin, Stephanie E. Vallee, Kent E. Opheim, Juliann Mcconnell, Bertrand Isidor, Andrée Delahaye, Cédric Le Caignec, Shawnia Ryan
المصدر: Human Mutation. 33:728-740
مصطلحات موضوعية: Adult, Male, Adolescent, Developmental Disabilities, Haploinsufficiency, Biology, Article, Exon, Intellectual disability, Genetics, medicine, Humans, Language Development Disorders, Child, Gene, Genetics (clinical), Chromosomes, Human, Pair 12, Mental Disorders, Breakpoint, Body Dysmorphic Disorders, medicine.disease, Phenotype, Case-Control Studies, Child, Preschool, Body dysmorphic disorder, Speech delay, Female, medicine.symptom, SOXD Transcription Factors
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المؤلفون: T.A. Smolarek, Jerome L. Gorski, Y. Senturias, M. Frydman, Blake C. Ballif, Jill A. Rosenfeld, Jay W. Ellison, D. Earl, Robin Troxell, B. Torchia, Karen D. Tsuchiya, Roger A. Schultz, M. Westemeyer, Brad Angle, Lisa G. Shaffer, S. Zimmerman, Katherine H. Kim
المصدر: Molecular Syndromology. 3:247-254
مصطلحات موضوعية: Proband, Genetics, Microcephaly, Sotos syndrome, Biology, medicine.disease, Short stature, Craniosynostosis, Gene duplication, medicine, Copy-number variation, medicine.symptom, Gene, Genetics (clinical)
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المؤلفون: Lisa G. Shaffer, Lynda J. Campbell, Theresa C. Brown, Marilyn L. Slovak, Aubry Furrow, Jin Yeong Han, Roger A. Schultz, Meaghan Wall, Blake C. Ballif, Kathryn A. Kolquist
المصدر: Cancer Genetics. 204:603-628
مصطلحات موضوعية: Cancer Research, Microarray, medicine.medical_treatment, Abnormal Karyotype, PDGFRA, Biology, Targeted therapy, Neoplasms, hemic and lymphatic diseases, Genetics, medicine, Humans, Molecular Biology, Oligonucleotide Array Sequence Analysis, Chromosome Aberrations, Comparative Genomic Hybridization, medicine.diagnostic_test, Microarray analysis techniques, Myelodysplastic syndromes, Cancer, medicine.disease, Myelodysplastic Syndromes, Cancer research, Comparative genomic hybridization, Fluorescence in situ hybridization
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المؤلفون: Beth S. Torchia, J. Britt Ravnan, Aaron Theisen, Ian Casci, Bassem A. Bejjani, Nicholas J. Neill, Jill A. Rosenfeld, Roger A. Schultz, Trilochan Sahoo, Lisa G. Shaffer, Allen N. Lamb
المصدر: Genetics in Medicine. 13:868-880
مصطلحات موضوعية: Male, Heredity, Adolescent, DNA Copy Number Variations, Microarray, Developmental Disabilities, Schizophrenia (object-oriented programming), Behavioral Symptoms, Biology, Young Adult, Chromosome Duplication, mental disorders, Intellectual disability, medicine, Chromosomes, Human, Humans, Genetic Predisposition to Disease, Language Development Disorders, Copy-number variation, Child, Gene, Genetic Association Studies, Genetics (clinical), Genetics, Comparative Genomic Hybridization, Infant, Newborn, Infant, medicine.disease, Phenotype, Genetic Loci, Child, Preschool, Schizophrenia, Susceptibility locus, Autism, Female, Chromosome Deletion