-
1دورية أكاديمية
المؤلفون: Stefano Stagi, Mariarosaria Di Tommaso, Cristina Manoni, Perla Scalini, Francesco Chiarelli, Alberto Verrotti, Elisabetta Lapi, Sabrina Giglio, Laura Dosa, Maurizio de Martino
المصدر: International Journal of Endocrinology, Vol 2016 (2016)
مصطلحات موضوعية: Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
-
2
المؤلفون: Giulio Piluso, Katharina Wimmer, Veronica Saletti, Eniko K. Pivnick, Geraldine Kelly-Mancuso, Karen W. Gripp, Cristin Griffis, Louanne Hudgins, Alessandro De Luca, Michael F. Wangler, M. Daniela D'Agostino, Marica Eoli, Cynthia M. Powell, Laura A. Baker, Mayra Martinez Ojeda, Silvia Esposito, Elizabeth A. Sellars, Kory Keller, David D. Weaver, James T. Bennett, Nicole J. Ullrich, Allison L. Goetsch, Donald Basel, Bruce R. Korf, Stephanie Fox, Katelyn Hodge, Laura Dosa, Robert S. Greenwood, Mario Bengala, Andrea M. Lewis, Ruth Sheffer, Valentina Pinna, Fanny Cortés, Dusica Babovic-Vuksanovic, Aaina Kochhar, Rosemarie Smith, Concepción Hernández-Chico, Elizabeth Siqveland, Robert Listernick, Lola K. Clarkson, Punita Gupta, E. Haan, Martin B. Delatycki, Amy Theos, Noa Ruhrman Shahar, Teresa Giugliano, Carey McDougall, Mitch Cunningham, David W. Stockton, Tom Callens, Maria Cristina Digilio, Yunjia Chen, Ludwine Messiaen, Eva Trevisson, Samantha A. Schrier Vergano, Caleb Rogers, Magdalena Koczkowska, Kathleen Claes, Christine Fauth, Jan Liebelt, Pamela Trapane, Eric Johns, John M. Slopis, Chelsea Chambers, Tamara L. Haygarth, Lesley K. McGregor, Alberto Spalice, Małgorzata J.M. Nowaczyk, Mary Ella M Pierpont, Kaleb Yohay, Alicia Gomes, Vickie Zurcher, Gail E. Tomlinson, Angie W. Lichty, Stephanie E Wallace, Rachel K. Hachen, Isabelle Maystadt, S. Lane Rutledge, Yael Goldberg, Grace Tran, Ulrich A. Schatz, Allison Schreiber, Jenneke van den Ende, Michael J. Lyons, Mary Louise Freckmann, Kim Armfield Uhas, Alesha D. Hicks, Maurizio Clementi, Haley Streff, June Ortenberg, John Pappas, Nancy J. Mendelsohn, Sandra Janssens, Karin Panzer, Yolanda Martin, Elaine H. Zackai, Sandra Giustini, Linlea Armstrong, Katherine A. Bosanko, Angela Sharp, Daryl A. Scott, Jonathan Zonana, Robert J. Hopkin, Eric Legius, Dinel A. Pond, Daniela Melis, Claudia Santoro, Sarah A. Sandaradura
المصدر: Human Mutation. 41:299-315
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, 0303 health sciences, medicine.medical_specialty, education.field_of_study, Pulmonic stenosis, 030305 genetics & heredity, Population, Spinal neurofibromas, Biology, medicine.disease, Phenotype, Gastroenterology, nervous system diseases, 03 medical and health sciences, Internal medicine, Cohort, Genetics, medicine, Missense mutation, Noonan syndrome, Neurofibromatosis, education, Genetics (clinical), 030304 developmental biology
-
3
المؤلفون: Luana, Fontana, Massimo, Santoro, Maria Rosaria, D'Apice, Francesca, Peluso, Giulia, Gori, Amelia, Morrone, Giuseppe, Novelli, Laura, Dosa, Annalisa, Botta
المصدر: Acta Myologica
مصطلحات موضوعية: musculoskeletal diseases, Aged, 80 and over, Male, congenital, hereditary, and neonatal diseases and abnormalities, Family Characteristics, Adolescent, Genotyping Techniques, DNA Methylation, Middle Aged, TP-PCR analysis, Myotonin-Protein Kinase, Pedigree, DMPK variant alleles, premutation, Haplotypes, Italy, Humans, Myotonic Dystrophy, CpG Islands, Family, Female, Original Article, methylation, Trinucleotide Repeat Expansion, Repetitive Sequences, Nucleic Acid
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::5da6fee97fc1e9ed468ed1d53717c86b
https://pubmed.ncbi.nlm.nih.gov/32607474 -
4
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
-
5
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
-
6
المؤلفون: Marina Vascotto, Margherita Baldassarri, Pietro Rubegni, Giulia Carignani, Francesca Mari, Ranuccio Nuti, Joussef Hayek, Alessandra Renieri, Joris Vermeesch, Elena Pretegiani, Carla Caffarelli, Livia Garavelli, Angelo Selicorni, Maria Teresa Dotti, Francesca Cristofoli, Chiara Di Marco, Paola Cianci, Salvatore Grosso, Caterina Lo Rizzo, Maria Antonietta Mencarelli, Michele Fimiani, Paolo Balestri, Chiara Fallerini, Laura Dosa, Annabella Marozza, R. Vivarelli
المصدر: Brain and Development. 37:527-536
مصطلحات موضوعية: Male, Pediatrics, Chromosomal Proteins, Non-Histone, SMARCB1, Hypotrichosis, Cohort Studies, SMARCA2, Intellectual disability, Missense mutation, Coffin-Siris syndrome, Low frontal hairline, Child, BAF-complex, ARID1B, Nicolaides-Baraitser syndrome, High-Throughput Nucleotide Sequencing, SMARCB1 Protein, General Medicine, DNA-Binding Proteins, Nicolaides–Baraitser syndrome, Child, Preschool, Cohort, Female, Hand Deformities, Congenital, Adult, medicine.medical_specialty, Adolescent, Foot Deformities, Congenital, Micrognathism, Developmental Neuroscience, Intellectual Disability, medicine, Humans, Abnormalities, Multiple, Sparse hair, Psychiatry, Coffin–Siris syndrome, Genetic Association Studies, business.industry, Facies, Infant, medicine.disease, Face, Pediatrics, Perinatology and Child Health, Neurology (clinical), business, Neck, Transcription Factors
-
7
المؤلفون: Giulia Carignani, Maria Antonietta Mencarelli, Paolo Toti, Francesca Mari, Chiara Di Marco, Francesca Ariani, Daniela Galimberti, Annabella Marozza, Serena Somma, Theodora Hadjistilianou, Ilaria Meloni, Pietro Piu, Caterina Lo Rizzo, Sonia De Francesco, Valentina Imperatore, Sara Amitrano, Laura Dosa, Francesco Cetta, Alessandra Renieri
المصدر: European Journal of Human Genetics. 23:1523-1530
مصطلحات موضوعية: Adult, Male, Heterozygote, Adolescent, Genetics (clinical), Genetics, Genetic counseling, Germline mosaicism, Biology, Retinoblastoma Protein, Article, Deep sequencing, DNA sequencing, Germline mutation, medicine, Humans, Allele, Child, Alleles, Germ-Line Mutation, Mosaicism, Retinoblastoma, Sporadic Retinoblastoma, High-Throughput Nucleotide Sequencing, medicine.disease, eye diseases, Child, Preschool, Female
-
8
المؤلفون: Marisa Giani, Pierangela Castorina, Maurizio Clementi, A. La Manna, Francesco Brancati, Giorgia Mandrile, Rossella Tita, Dorella Del Prete, Sandro Feriozzi, E. Frate, Francesca Ariani, Nunzia Miglietti, Roberta Mancini, M. De Marchi, Daniela Giachino, G. Gai, Mirella Bruttini, Laura Dosa, A.R. Pinciaroli, Chiara Fallerini, Giorgio Piaggio, Alessandra Renieri, L. Diano, Francesca Mari, Elena Bresin, Gian Marco Ghiggeri
المصدر: Clinical Genetics. 86:252-257
مصطلحات موضوعية: Genetics, Inheritance (genetic algorithm), Pedigree chart, Disease, Biology, medicine.disease, DNA sequencing, Mutation (genetic algorithm), medicine, In patient, Alport syndrome, Gene, Genetics (clinical)
-
9
المؤلفون: Mario Messina, Chiara Di Marco, Fulvia Baldinotti, Caterina Lo Rizzo, Laura Dosa, Cinzia Castagnini, Francesca Mari, Silvano Bertelloni, Paolo Simi, A.L. Bulotta, Angela Michelucci, Giovanni Di Maggio, Concetta Varetti, Alessandra Renieri, D. Meucci
المصدر: Gene. 526:490-493
مصطلحات موضوعية: Male, Cholestenone 5 alpha-Reductase, medicine.medical_specialty, Adolescent, Population, Disorders of Sex Development, XY DSD, 46,XY DSD, Founder effect, Phenotypic variability, SRD5A2 gene, Steroid 5-α-reductase-2 deficiency, Biology, Consanguinity, 3-Oxo-5-alpha-Steroid 4-Dehydrogenase, Mutation Rate, Internal medicine, Genetics, medicine, Humans, Missense mutation, Child, education, education.field_of_study, Membrane Proteins, General Medicine, medicine.disease, Dermatology, Inguinal canal, Pedigree, Phenotype, Endocrinology, medicine.anatomical_structure, Hypospadias, Child, Preschool, SRD5A2, Iraq, Mutation, Mutation (genetic algorithm), Female, Novel mutation
-
10
المؤلفون: Maurizio de Martino, Perla Scalini, Alberto Verrotti, Sabrina Giglio, Cristina Manoni, Mariarosaria Di Tommaso, Francesco Chiarelli, Laura Dosa, Stefano Stagi, Elisabetta Lapi
المصدر: International Journal of Endocrinology, Vol 2016 (2016)
International Journal of Endocrinologyمصطلحات موضوعية: 0301 basic medicine, Deoxypyridinoline, medicine.medical_specialty, Article Subject, Endocrinology, Diabetes and Metabolism, Parathyroid hormone, 030209 endocrinology & metabolism, Endocrinology, Endocrine and Autonomic Systems, lcsh:Diseases of the endocrine glands. Clinical endocrinology, 03 medical and health sciences, Follicle-stimulating hormone, chemistry.chemical_compound, 0302 clinical medicine, Internal medicine, Medicine, Testosterone, Bone mineral, lcsh:RC648-665, biology, business.industry, medicine.disease, Metabolic Bone Disorder, Diabetes and Metabolism, 030104 developmental biology, chemistry, Clinical Study, Osteocalcin, biology.protein, Klinefelter syndrome, business
وصف الملف: text/xhtml
Full Text Finder 
Find this article in full text from Springer Verlag. 
Full Text via ClinicalKey