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المؤلفون: Stacey Cole, Alena Egense, Ayaka Suzuki, Madelena Martin, Colette DeFilippo, Katherine Rauen, Suma Shankar
المصدر: Genetics in Medicine. 24:S66-S67
مصطلحات موضوعية: Genetics (clinical)
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المؤلفون: John A. Bernat, Elliott H. Sherr, Weimin Bi, Tugce B. Balci, Ronald J. Wapner, Jessica L. Giordano, Jill A. Rosenfeld, Donna M. Martin, Brieana Fregeau, Valerie K. Jordan, Annika M. Dries, Amanda Moccia, Colette DeFilippo, Jennefer N. Kohler, Yaping Yang, Vincent Cantagrel, Andrea M. Lewis, Willa Thorson, Xiaoyan Ge, Anshika Srivastava, Stephanie L. Bielas, Jonathan A. Bernstein, Melissa T. Carter, Marlène Rio, Nathalie Boddaert, John Pappas, Melissa D. Svoboda, Fernando Scaglia, Daryl A. Scott
المصدر: Paediatrics Publications
مصطلحات موضوعية: Male, 0301 basic medicine, Adolescent, Biology, 1p36 deletion syndrome, Article, genotype–phenotype correlations, CHD7, Young Adult, 03 medical and health sciences, CHARGE syndrome, Fatal Outcome, Neurodevelopmental disorder, Gene duplication, RERE, Genetics, medicine, Humans, Gene, Genetic Association Studies, Genetics (clinical), Point mutation, Infant, medicine.disease, Phenotype, 030104 developmental biology, Child, Preschool, Mutation, Female, Carrier Proteins, NEDBEH, Haploinsufficiency
وصف الملف: application/pdf
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المؤلفون: Lynne M. Bird, Justin T. Jordan, Laura Dosa, Sébastien Perreault, Punita Gupta, Surya P. Rednam, Nicole J. Ullrich, Donald Basel, Linda M. Randolph, Leah W. Burke, Andrea Shugar, Angela Sharp, Ludwine Messiaen, Carey McDougall, Alicia Gomes, Andrea M. Lewis, Maurice J. Mahoney, Rachel K. Hachen, Marie T. McDonald, Katherine A. Rauen, Colette DeFilippo, Carmelo Piscopo, Maria Cristina Digilio, Sandra Janssens, Mary Ella M Pierpont, Lois J. Starr, Eric Legius, Michael F. Wangler, G. Bradley Schaefer, Arthur S. Aylsworth, Pamela Trapane, Ashraf Syed, Laurence E. Walsh, Alesha D. Hicks, Emily Wakefield, Robert Listernick, Nancy J. Mendelsohn, Elaine H. Zackai, Fortunato Lonardo, Dinel A. Pond, Robert S. Greenwood, Alessandro De Luca, Elizabeth K. Schorry, Rianne Oostenbrink, Katharina Wimmer, Ellen Denayer, Felicity Collins, Peter Kannu, Daryl A. Scott, S. Lane Rutledge, Yolanda Martin, Shelley K. Dills, Amedeo A. Azizi, Kristi J. Jones, David T. Miller, Gary Bellus, Yunjia Chen, Tom Callens, Magdalena Koczkowska, Kathleen Claes, Rick van Minkelen, Mayra Martinez Ojeda, Ashley Cannon, Bruce R. Korf, Cristin Griffis, Maria Blazo, Mari Mori, Veronica Saletti, Elizabeth Siqveland, Concepción Hernández-Chico
المساهمون: Pediatrics, Clinical Genetics
المصدر: Genetics in Medicine, 21(4), 867-876. Lippincott Williams & Wilkins
Genetics in medicine : official journal of the American College of Medical Genetics, vol 21, iss 4
GENETICS IN MEDICINE
Genetics in Medicineمصطلحات موضوعية: 0301 basic medicine, Male, CHILDREN, 030105 genetics & heredity, GUIDELINES, neurofibroma, Correlation, Medicine and Health Sciences, Type 1 Neurofibromatosis, Neurofibroma, Child, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), learning difficulties, Genetics (clinical), Sequence Deletion, Genetics, Pediatric, Genetics & Heredity, Neurofibromin 1, Learning Disabilities, ASSOCIATION, genotype–phenotype correlation, Plexiform, Child, Preschool, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, NERVE SHEATH TUMORS, Female, p.Met992del, Adult, congenital, hereditary, and neonatal diseases and abnormalities, Heterozygote, VONRECKLINGHAUSEN NEUROFIBROMATOSIS, Neurofibromatosis 1, Adolescent, Clinical Sciences, Mutation, Missense, Biology, genotype-phenotype correlation, Article, Genotype phenotype, Neurofibromatosis, 03 medical and health sciences, Young Adult, Rare Diseases, Clinical Research, medicine, Humans, Genetic Predisposition to Disease, Clinical phenotype, Preschool, Gene, neoplasms, Genetic Association Studies, Neurofibroma, Plexiform, MUTATIONS, OPTIC PATHWAY TUMORS, Neurosciences, Correction, Biology and Life Sciences, Infant, SOUTH EAST WALES, medicine.disease, NOONAN SYNDROME, nervous system diseases, Brain Disorders, 030104 developmental biology, NF1, Mutation, Noonan syndrome, TYPE-1 NEUROFIBROMATOSIS, Missense
وصف الملف: Print-Electronic; application/pdf
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المؤلفون: Ludwine Messiaen, Ashley Cannon, Concepción Hernández-Chico, Yolanda Martin, Andrea Shugar, Mary Ella M Pierpont, Robert S. Greenwood, Yunjia Chen, Fortunato Lonardo, Ellen Denayer, Arthur S. Aylsworth, Shelley K. Dills, Mayra Martinez Ojeda, Elizabeth K. Schorry, Amedeo A. Azizi, Lois J. Starr, Andrea M. Lewis, Rianne Oostenbrink, Bruce R. Korf, Pamela Trapane, Peter Kannu, Daryl A. Scott, Elizabeth Siqveland, Rick van Minkelen, Justin T. Jordan, Laura Dosa, Nancy J. Mendelsohn, David T. Miller, Dinel A. Pond, Alessandro De Luca, Elaine H. Zackai, Rachel K. Hachen, Donald Basel, Linda M. Randolph, Eric Legius, Maurice J. Mahoney, Tom Callens, Maria Cristina Digilio, Alesha D. Hicks, Carmelo Piscopo, Sandra Janssens, Katherine A. Rauen, Michael F. Wangler, Ashraf Syed, Emily Wakefield, Punita Gupta, Lynne M. Bird, Alicia Gomes, Marie T. McDonald, Katharina Wimmer, S. Lane Rutledge, Colette DeFilippo, Robert Listernick, Kathleen Claes, Surya P. Rednam, Nicole J. Ullrich, Leah W. Burke, Carey McDougall, Sébastien Perreault, Gary Bellus, Magdalena Koczkowska, Cristin Griffis, Laurence E. Walsh, Angela Sharp, Felicity Collins, Maria Blazo, Kristi J. Jones, Mari Mori, Veronica Saletti, G. Bradley Schaefer
المصدر: Genetics in Medicine, vol 21, iss 3
مصطلحات موضوعية: Genetics, Correlation, Frame (networking), ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, Biology, Clinical phenotype, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), Gene, Genetics (clinical), Genotype phenotype
وصف الملف: application/pdf
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المؤلفون: Chloe M. Reuter, Matthew T. Wheeler, Annika M. Dries, Colette DeFilippo, Jonathan A. Bernstein, Gregory M. Enns, Elise Brimble, Euan A. Ashley, Paul G. Fisher
المصدر: The Journal of pediatrics. 196
مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Genotype, Nerve Tissue Proteins, Diagnostic dilemma, 030105 genetics & heredity, Article, NAV1.5 Voltage-Gated Sodium Channel, 03 medical and health sciences, Rare Diseases, Medicine, Humans, Genetic Testing, Intensive care medicine, Exome sequencing, Genetic testing, medicine.diagnostic_test, business.industry, Forkhead Transcription Factors, United States, Government Programs, 030104 developmental biology, Clinical research, Phenotype, National Institutes of Health (U.S.), Child, Preschool, Pediatrics, Perinatology and Child Health, Mutation, business