المؤلفون: Natalie Blagowidow, Beata Nowakowska, Erica Schindewolf, Francesca Romana Grati, Carolina Putotto, Jeroen Breckpot, Ann Swillen, Terrence Blaine Crowley, Joanne C. Y. Loo, Lauren A. Lairson, Sólveig Óskarsdóttir, Erik Boot, Sixto Garcia-Minaur, Maria Cristina Digilio, Bruno Marino, Beverly Coleman, Julie S. Moldenhauer, Anne S. Bassett, Donna M. McDonald-McGinn

المصدر: Genes; Volume 14; Issue 1; Pages: 160

مصطلحات موضوعية: Male, Heart Defects, Congenital, prenatal ultrasound, fetal cardiac anomaly, Fetal Diseases, Pregnancy, 22q11.2 deletion syndrome, noninvasive prenatal screening, preimplantation genetic testing, Prenatal Diagnosis, Genetics, DiGeorge Syndrome, Humans, Female, Genetic Testing, Child, Genetics (clinical)

وصف الملف: Electronic; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aeda4822e813a946213fec47cb722e03Test
https://lirias.kuleuven.be/handle/20.500.12942/714720Test

المؤلفون: Sixto Garcia Minaur, Pankaj B. Agrawal, A. Micheil Innes, Catherine A. Brownstein, David S. Wargowski, Brenda McInnes, Isaac Wong, Albert E. Chudley, Jennifer E. Posey, Francesc López-Giráldez, Ping-Yee B Au, Alper Gezdirici, Kyrieckos A. Aleck, Eric Boerwinkle, Paolo Prontera, Bilgen Bilge Geçkinli, Yeting Zhang, An Nguyen, David A. Dyment, Jukka S. Moilanen, Alan H. Beggs, Nara Sobreira, Hatip Aydin, Elizabeth E. Blue, Kathryn Dunn, Gerald F. Cox, Bernard N. Chodirker, Harrison Brand, Jinchuan Xing, Hind Al Sharhan, Bert B.A. de Vries, Maria Juliana Rodovalho Doriqui, Davut Pehlivan, Shalini N. Jhangiani, Centers for Mendelian Genomics, Katrin Õunap, Cheryl R. Greenberg, Kaya Bilguvar, Carol L. Clericuzio, Cynthia J. Curry, Taila Hartley, Julie Lauzon, Michael J. Bamshad, Timothy Poterba, R. Brian Lowry, Jill A. Fahrner, Cullen M. Dutmer, M. E. Suzanne Lewis, Steve Buyske, Ender Karaca, Aziz Mhanni, William T. Gibson, Valentina Stanley, April Hall, Elke de Boer, Kristin D. Kernohan, Joseph G. Gleeson, P. Dane Witmer, Jungmin Choi, Danny Antaki, Małgorzata J.M. Nowaczyk, Sander Pajusalu, Anne H. O’Donnell-Luria, Sarah L. Sawyer, Zeynep Coban Akdemir, Tara C. Matise, Jennifer McEvoy-Venneri, Casie A. Genetti, Kym M. Boycott, Lynette S. Penney, Ada Hamosh, Eleina M. England, Deniz Torun, Maha S. Zaki, Deborah A. Nickerson

المساهمون: Dyment, David A., O'Donnell-Luria, Anne, Agrawal, Pankaj B., Coban Akdemir, Zeynep, Aleck, Kyrieckos A., Antaki, Danny, Al Sharhan, Hind, Au, Ping-Yee B., Aydin, Hatip, Beggs, Alan H., Bilguvar, Kaya, Boerwinkle, Eric, Brand, Harrison, Brownstein, Catherine A., Buyske, Steve, Chodirker, Bernard, Choi, Jungmin, Chudley, Albert E., Clericuzio, Carol L., Cox, Gerald F., Curry, Cynthia, de Boer, Elke, de Vries, Bert B. A., Dunn, Kathryn, Dutmer, Cullen M., England, Eleina M., Fahrner, Jill A., Geckinli, Bilgen B., Genetti, Casie A., Gezdirici, Alper, Gibson, William T., Gleeson, Joseph G., Greenberg, Cheryl R., Hall, April, Hamosh, Ada, Hartley, Taila, Jhangiani, Shalini N., Karaca, Ender, Kernohan, Kristin, Lauzon, Julie L., Lewis, M. E. Suzanne, Lowry, R. Brian, Lopez-Giraldez, Francesc, Matise, Tara C., McEvoy-Venneri, Jennifer, McInnes, Brenda, Mhanni, Aziz, Garcia Minaur, Sixto, Moilanen, Jukka, Nguyen, An, Nowaczyk, Malgorzata J. M., Posey, Jennifer E., Ounap, Katrin, Pehlivan, Davut, Pajusalu, Sander, Penney, Lynette S., Poterba, Timothy, Prontera, Paolo, Doriqui, Maria Juliana Rodovalho, Sawyer, Sarah L., Sobreira, Nara, Stanley, Valentina, Torun, Deniz, Wargowski, David, Witmer, P. Dane, Wong, Isaac, Xing, Jinchuan, Zaki, Maha S., Zhang, Yeting, Boycott, Kym M., Bamshad, Michael J., Nickerson, Deborah A., Blue, Elizabeth E., Innes, A. Micheil

المصدر: Am J Med Genet A

مصطلحات موضوعية: 0301 basic medicine, Male, ANOMALIES, INTELLECTUAL DISABILITY, Eczema, 030105 genetics & heredity, PHENOTYPE, genetic heterogeneity, Locus heterogeneity, Dubowitz syndrome, Exome, Child, Genetics (clinical), Exome sequencing, Growth Disorders, Genetics, FRAMESHIFT, Genomics, 3. Good health, VPS13B, genome sequencing, LOSS-OF-FUNCTION, Child, Preschool, symbols, Microcephaly, Female, microarray, Adolescent, DNA Copy Number Variations, Biology, NSUN2, PATIENT, DNA sequencing, Histone Deacetylases, Article, 03 medical and health sciences, symbols.namesake, medicine, Humans, Genetic Predisposition to Disease, ANEMIA, Genetic heterogeneity, Genome, Human, MUTATIONS, Facies, Infant, PLATFORM, medicine.disease, Repressor Proteins, 030104 developmental biology, Mendelian inheritance, exome sequencing

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62d9fcc3e2207989ee26f7c3b468b59dTest
https://hdl.handle.net/11424/243257Test

المؤلفون: Valérie Cormier-Daire, Sahar Mansour, Stephen P. Robertson, Barbara Schroter, Sarah K. Holman, Didier Lacombe, Ravi Savarirayan, Thomas Schmitt-Mechelke, Mary Porteous, Phil Daniel, Dagmar Tapon, Sixto Garcia Minaur, Oliver Quarrell, Rachel L. Herron, Timothy R. Morgan, Bernhard Steiner, Torunn Fiskerstrand, Annette Mosel, Zandra A. Jenkins, Laurence A. Bindoff, Annick Raas-Rothschild, Chung Wo Chow, Michael W. Parker, Ruth Nash, Axel Bohring

المساهمون: University of Zurich, Robertson, S P

مصطلحات موضوعية: Male, 2716 Genetics (clinical), 10039 Institute of Medical Genetics, DNA Mutational Analysis, Cardiomyopathy, 610 Medicine & health, Biology, Bone and Bones, Osteopathia striata, Osteosclerosis, 1311 Genetics, Genetics, medicine, Humans, Luciferases, Genetics (clinical), Adaptor Proteins, Signal Transducing, DNA Primers, Male Phenotype, Tumor Suppressor Proteins, Macrocephaly, Genetic Diseases, X-Linked, Anatomy, medicine.disease, Phenotype, Osteochondrodysplasia, Megalencephaly, Skull, medicine.anatomical_structure, 570 Life sciences, biology, Female, medicine.symptom

وصف الملف: Holman_et_al,_the_male_phnotype.pdf - application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4104ee33ed594252ed007fec4847f944Test
https://www.zora.uzh.ch/id/eprint/57502Test/

المؤلفون: Pradeep C, Vasudevan, Sixto, Garcia-Minaur, Maria Pilar, Botella, Antonio, Perez-Aytes, Nora L, Shannon, Oliver W J, Quarrell

المصدر: Clinical dysmorphology. 14(3)

مصطلحات موضوعية: Male, Child, Preschool, Face, Infant, Newborn, Microcephaly, Humans, Abnormalities, Multiple, Retinal Dysplasia, Lymphedema, Syndrome, Child, Genes, Dominant

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::65f1ae647e7de91c801fc4e76fcbd46eTest
https://pubmed.ncbi.nlm.nih.gov/15930898Test