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1Academic Journal
المؤلفون: M. Chiara Manzini, Danielle Gleason, Bernard S. Chang, R. Sean Hill, Brenda J. Barry, Jennifer N. Partlow, Annapurna Poduri, Sophie Currier, Patricia Galvin-parton, Lawrence R. Shapiro, Karen Schmidt, Jessica G. Davis, Lina Basel-vanagaite, Mohamed Z. Seidahmed, Mustafa A. M. Salih, William B. Dobyns, Christopher A. Walsh
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.520.7084; http://www.walshlab.org/pdf/ethnically_diverse_causes_of_WWS.pdf
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2
المؤلفون: Lawrence R. Shapiro, Sandra R. Wolman, Bernard Zuger
المصدر: Developmental Medicine & Child Neurology. 14:647-656
مصطلحات موضوعية: Male, Movement Disorders, Psychoanalysis, Adolescent, Developmental Disabilities, Philosophy, Vision Disorders, Syndrome, Developmental Neuroscience, Intellectual Disability, Pediatrics, Perinatology and Child Health, Compulsive Behavior, Humans, Neurology (clinical), Mouth Abnormalities, Head, Humanities
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3
المؤلفون: Patricia Galvin-Parton, Christopher A. Walsh, Sophie Currier, Lawrence R. Shapiro, Mohamed Z. Seidahmed, William B. Dobyns, R. Sean Hill, Lina Basel-Vanagaite, Annapurna Poduri, Brenda J. Barry, M. Chiara Manzini, Karen L. Schmidt, Jennifer N. Partlow, Bernard S. Chang, Mustafa A. Salih, Jessica G. Davis, Danielle Gleason
المصدر: Human Mutation. 29:E231-E241
مصطلحات موضوعية: Male, Genotype, Cobblestone Lissencephaly, DNA Mutational Analysis, Biology, medicine.disease_cause, Article, Muscular Dystrophies, Middle East, Genetics, medicine, Humans, Abnormalities, Multiple, Eye Abnormalities, Allele, Child, Walker–Warburg syndrome, Genetics (clinical), Mutation, Genome, Human, Genetic heterogeneity, fungi, Membrane Proteins, Syndrome, medicine.disease, Phenotype, Pedigree, Congenital muscular dystrophy, Female
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المؤلفون: Mitsuhiro Kamisago, Sapna D. Sharma, Steven R. DePalma, Scott Solomon, Pankaj Sharma, Barbara McDonough, Leslie Smoot, Mary P. Mullen, Paul K. Woolf, E. Douglas Wigle, J.G. Seidman, John Jarcho, Lawrence R. Shapiro, Christine E. Seidman
المصدر: New England Journal of Medicine. 343:1688-1696
مصطلحات موضوعية: Adult, Cardiomyopathy, Dilated, Male, Sarcomeres, medicine.medical_specialty, Adolescent, TNNT2, Molecular Sequence Data, Mutation, Missense, Cardiomyopathy, medicine.disease_cause, Troponin T, Internal medicine, Idiopathic dilated cardiomyopathy, Troponin I, medicine, Humans, Amino Acid Sequence, Child, Aged, Genes, Dominant, Ultrasonography, Chromosomes, Human, Pair 14, Genetics, Mutation, Nonmuscle Myosin Type IIB, Myosin Heavy Chains, biology, Myocardium, Chromosome Mapping, Infant, Dilated cardiomyopathy, General Medicine, Myocardial Disorder, Middle Aged, medicine.disease, Myocardial Contraction, Troponin, Pedigree, Child, Preschool, biology.protein, Cardiology, Female
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5
المؤلفون: Lawrence R. Shapiro, Maurice J. Mahoney, Anthony C. Casamassima, Patrick L. Wilmot, Robin V. Scott
المصدر: Clinical Genetics. 35:282-284
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Amniotic fluid, Pregnancy, High-Risk, Aneuploidy, Trisomy, Prenatal diagnosis, Fetal blood sampling, Pregnancy, Genetics, medicine, Humans, Genetics (clinical), Fetus, medicine.diagnostic_test, Mosaicism, business.industry, Obstetrics, Infant, Newborn, Amniotic Fluid, Fetal Blood, Prognosis, medicine.disease, Amniocentesis, Chromosomes, Human, Pair 5, Female, business, Maternal Age
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المؤلفون: S. Youings, J. Tarrelton, Joanne Dixon, D. Broome, Stephanie L. Sherman, G. Filippi, Randi J Hagerman, G. S. Pai, J. L. Meyer, Karl-Henrik Gustavson, S. A. M. Taylor, E. C. Jenkins, A. P. T. Smits, Anne Maddalena, Lawrence R. Shapiro, Tessa Webb, M. Grasso, C. E. Schwartz, W. T. Brown, P A Jacobs, Sarah L. Nolin, Ingo Kennerknecht, Patricia N. Howard-Peebles, Francisco Martínez, A. J. Barnicoat, Patrick Ferreira, Louise W. Staley, Hazel Robinson, Gotthold Barbi, Peter Steinbach, B.A. van Oost, Athel Hockey
المصدر: American Journal of Medical Genetics. 51:503-506
مصطلحات موضوعية: Heterozygote, medicine.medical_specialty, Population, Gene Dosage, Gene Expression, Biology, Risk Assessment, law.invention, Predictive Value of Tests, Pregnancy, Recurrence, law, medicine, Humans, Prospective Studies, education, Prospective cohort study, Genetics (clinical), Repetitive Sequences, Nucleic Acid, Genetics, education.field_of_study, Obstetrics, Pregnancy Outcome, medicine.disease, Fragile X syndrome, Transmission (mechanics), Fragile X Syndrome, Mutation, Mutation (genetic algorithm), Gestation, Female, Sex ratio
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7
المؤلفون: Lawrence R. Shapiro, Peter A. Duncan
المصدر: American Journal of Medical Genetics. 47:75-84
مصطلحات موضوعية: Heart Defects, Congenital, Hypersegmented neutrophil, Pathology, medicine.medical_specialty, Ectromelia, Biology, Kidney, Anus, Imperforate, medicine, Humans, Abnormalities, Multiple, Esophageal Atresia, Genetics (clinical), Incidence (epidemiology), Monozygotic Twinning, Syndrome, Anatomy, medicine.disease, Phenotype, Spine, digestive system diseases, Hemifacial microsomia, medicine.anatomical_structure, Facial Asymmetry, Sirenomelia, Body region, Tracheoesophageal Fistula, Blood vessel
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8
المؤلفون: Lawrence R. Shapiro, Patrick L. Wilmot
المصدر: Pediatric Annals. 22:298-303
مصطلحات موضوعية: Chromosome Aberrations, business.industry, Genetic Diseases, Inborn, Chromosome Disorders, Bioinformatics, Cytogenetics, Sex Chromatin, Fragile X Syndrome, Pediatrics, Perinatology and Child Health, Humans, Medicine, Angelman Syndrome, business, Prader-Willi Syndrome, In Situ Hybridization
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9
المؤلفون: Patrick L. Wilmot, Gene S. Fisch, Lawrence R. Shapiro
المصدر: American Journal of Medical Genetics. 43:170-173
مصطلحات موضوعية: Male, Gynecology, medicine.medical_specialty, Fragile x, Pregnancy, Amniotic fluid, business.industry, Cytogenetics, Prenatal diagnosis, medicine.disease, Sensitivity and Specificity, Fragile X syndrome, Fetal blood sampling, Endocrinology, Fragile X Syndrome, Prenatal Diagnosis, Internal medicine, medicine, Humans, Female, Family history, business, Genetics (clinical)
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10
المؤلفون: Mira Irons, Eric Legius, Raymon Vijzelaar, David Kronn, Hilde Brems, Emily Spencer, Amy Pearn, Vinodh Narayanan, Marie T. McDonald, Toranoshin Ayada, Edmond G. Lemire, Heidi Thiese, Achara Sathienkijkanchai, Lawrence R. Shapiro, Tom Callens, Pamela Arn, Annabel H. A. Parret, Bruce H. Cohen, Dusica Babovic-Vuksanovic, Gary Bobele, Theresa A. Grebe, Ludwine Messiaen, Fuyuki Okamoto, Elaine H. Zackai, Bruce R. Korf, Robert Pedersen, David Skidmore, David Tegay, Robert M. Greenstein, Kathleen A. Leppig, Akihiko Yoshimura, Luis F. Escobar, Koji Taniguchi, Berkley R. Powell, Rachel K. Hachen, S. Yao, Carolyn Bay, Cynthia Lim, Deborah L. Eunpu, Ellen Denayer
المصدر: JAMA. 302(19)
مصطلحات موضوعية: Silent mutation, Proband, Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Pathology, Neurofibromatosis 1, Adolescent, DNA Mutational Analysis, Mutation, Missense, Young Adult, Germline mutation, Genes, Neurofibromatosis 1, medicine, Missense mutation, Humans, Genetic Testing, Neurofibromatosis, Child, Genetic Association Studies, Neurofibromatoses, Adaptor Proteins, Signal Transducing, Legius syndrome, business.industry, Cafe-au-Lait Spots, Macrocephaly, Intracellular Signaling Peptides and Proteins, Infant, Membrane Proteins, General Medicine, Syndrome, Middle Aged, medicine.disease, Dermatology, Cross-Sectional Studies, Phenotype, Child, Preschool, Mutation, Female, medicine.symptom, business
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المؤلفون: Lmg Curfs, Lawrence R. Shapiro, C. E. Schwartz, Martine Borghgraef, Gene S. Fisch, Richard J. Simensen, Tadao Arinami, Patricia N. Howard-Peebles, Ursula Froster-Iskenius, Jean-Pierre Fryns
المصدر: American Journal of Medical Genetics. 38:481-487
مصطلحات موضوعية: Adult, Male, Adolescent, Intelligence, Neurological disorder, Affect (psychology), Correlation, Intellectual Disability, Humans, Medicine, Child, Genetics (clinical), Aged, Intelligence Tests, Intelligence quotient, business.industry, Age Factors, Institutionalization, Wechsler Adult Intelligence Scale, Regression analysis, Middle Aged, medicine.disease, Education of Intellectually Disabled, Test (assessment), Fragile X syndrome, Child, Preschool, Fragile X Syndrome, Regression Analysis, business, Demography
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12
المصدر: American Journal of Medical Genetics. 38:305-310
مصطلحات موضوعية: Genetic Markers, Male, medicine.medical_specialty, Biology, Gene Frequency, Predictive Value of Tests, Pregnancy, Prenatal Diagnosis, Molecular genetics, medicine, Humans, Genetic Testing, Allele, Alleles, Genetics (clinical), X chromosome, Genetic testing, Gynecology, Genetics, medicine.diagnostic_test, Genetic Carrier Screening, Cytogenetics, DNA, medicine.disease, Fragile X syndrome, Evaluation Studies as Topic, Fragile X Syndrome, Female, Restriction fragment length polymorphism, DNA Probes, Polymorphism, Restriction Fragment Length
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13
المؤلفون: Marianna Davidian, Joel Fischer, J.W. Chiao, Patrick L. Wilmot, Joseph C. Addonizio, Lawrence R. Shapiro, Junro Muraki, Muhammad Choudhury, George R. Nagamatsu, Majid Eshghi
المصدر: Urology. 36:79-84
مصطلحات موضوعية: Pathology, medicine.medical_specialty, biology, business.industry, Urology, Acid phosphatase, Aneuploidy, Karyotype, medicine.disease, Staining, Tissue culture, medicine.anatomical_structure, Cell culture, Prostate, medicine, biology.protein, Cancer research, Adenocarcinoma, business
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14
المؤلفون: Peter A. Duncan, Judith G. Hall, Betsy K. Vibert, Lawrence R. Shapiro
المصدر: American Journal of Medical Genetics. 35:245-250
مصطلحات موضوعية: Adult, Male, Limb Deformities, Congenital, Russell-Silver Syndrome, Biology, law.invention, Pregnancy, law, parasitic diseases, medicine, Humans, Genetics (clinical), Genes, Dominant, Genetics, Fetal Growth Retardation, Genetic heterogeneity, Silver–Russell syndrome, Infant, Syndrome, medicine.disease, Body Height, Pedigree, Facial Expression, Transmission (mechanics), Child, Preschool, Female, Dominant inheritance, Head
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15
المؤلفون: Pasquale J. Accardo, Lawrence R. Shapiro
المصدر: The Journal of Pediatrics. 132:762-764
مصطلحات موضوعية: Fragile X syndrome, Pediatrics, medicine.medical_specialty, business.industry, Pediatrics, Perinatology and Child Health, medicine, medicine.disease, business, Test (assessment)
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16
المؤلفون: Lynn E. Andree, Patrick L. Wilmot, Lawrence R. Shapiro
المصدر: American Journal of Medical Genetics. 43:167-169
مصطلحات موضوعية: Male, In situ, medicine.medical_specialty, Pathology, Time Factors, Amniotic fluid, Prenatal diagnosis, Biology, Cytogenetics, Tissue culture, Pregnancy, Fragile X chromosome, Prenatal Diagnosis, medicine, Humans, Cells, Cultured, Genetics (clinical), Amniotic Fluid, medicine.disease, Fragile X syndrome, Evaluation Studies as Topic, Cell culture, Fragile X Syndrome, Immunology, Female
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17
المؤلفون: Elif Yosunkaya Fenerci, David Kronn, Roger V. Lebo, Jacinta L. Chuang, Lawrence R. Shapiro, J. M. Hoover, David T. Chuang
المصدر: American journal of human genetics. 67(3)
مصطلحات موضوعية: Male, Genotype, Mutant, Mitosis, Genes, Recessive, Biology, Nuclear Family, Meiosis, Maple Syrup Urine Disease, Nondisjunction, Genetic, Report, Genetics, Homologous chromosome, medicine, Humans, Genetics(clinical), Crossing Over, Genetic, Allele, Child, Genetics (clinical), Alleles, Polymorphism, Genetic, Models, Genetic, Maple syrup urine disease, Meiosis II, Chromosome, medicine.disease, Spermatozoa, Nondisjunction, Chromosomes, Human, Pair 1, Mutation, Oocytes, Female, Gene Deletion
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18
المؤلفون: Lawrence R. Shapiro
المصدر: New England Journal of Medicine. 325:1736-1738
مصطلحات موضوعية: Fragile X syndrome, Genetics, business.industry, Fragile X chromosome, Inheritance (genetic algorithm), Medicine, Base sequence, General Medicine, business, medicine.disease, X chromosome
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19
المصدر: Clinical Genetics. 38:126-127
مصطلحات موضوعية: Male, Genetics, Genetic Carrier Screening, Infant, Chromosome, Genetic Counseling, Chromosomal translocation, Consanguinity, Biology, Phenotype, Translocation, Genetic, Infantile seizures, Humans, Chromosomes, Human, Pair 3, Pseudolinkage, Spasms, Infantile, Gene, Chromosomes, Human, Pair 16, Genetics (clinical)
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20
المؤلفون: Lawrence R. Shapiro, Sara Kaffe, Lillian Y. F. Hsu
المصدر: American journal of obstetrics and gynecology. 173(3 Pt 1)
مصطلحات موضوعية: Adult, medicine.medical_specialty, medicine.diagnostic_test, Obstetrics, business.industry, Estriol, Obstetrics and Gynecology, Chorionic Gonadotropin, Pregnancy, Prenatal Diagnosis, medicine, Amniocentesis, Humans, Female, alpha-Fetoproteins, Down Syndrome, Serum screening, business, False Negative Reactions