المؤلفون: Carlos Ferreira, Tommy Hu, Monisha S. Kisling, Holly Dubbs, Vorasuk Shotelersuk, Lynne M. Bird, Danilo Moretti-Ferreira, Kisha D. Johnson, Kate Clarkson, Paul W.K. Wong, Carol A. Crowe, André Mégarbané, Paul Kruszka, Shubha R. Phadke, Ambroise Wonkam, Victoria Mok Siu, Nirmala D. Sirisena, David B. Everman, Ian D. Krantz, Marie T. McDonald, Elizabeth Roeder, Eyby Leon, Usha Pinakin Dave, E.V. Badoe, Antonie D. Kline, Katta M. Girisha, Leah Dowsett, Maximilian Muenke, Fuki M. Hisama, Kwame Anyane-Yeoba, Antonio R. Porras, Cedrik Tekendo-Ngongang, Meow-Keong Thong, Naoki Hamajima, Pranoot Tanpaiboon, Annette Uwineza, Brandon Davis, Sarah E. Raible, Shalini S. Nayak, Maninder Kaur, Vajira H. W. Dissanayake, Leticia Cassimiro Batista, Jessica Worthington, Matthew A. Deardorff, Eloise J. Prijoles, Virginia Kimonis, Louanne Hudgins, Anju Shukla, Roger E. Stevenson, Karen Fieggen, Greta Gillies, Laird G. Jackson, Leon Mutesa, Engela Honey, Zornitza Stark, Ann Ades, Sulgana Saitta, Robin D. Clark, Marius George Linguraru, Marshall L. Summar, Laurie A. Demmer, Diane Masser-Frye, Patrick Willems, Emanuela Salzano, Stavit A. Shalev

المصدر: American Journal of Medical Genetics Part A. 179:150-158

مصطلحات موضوعية: Adult, Male, Hypertrichosis, Microcephaly, medicine.medical_specialty, Cornelia de Lange Syndrome, Adolescent, Chromosomal Proteins, Non-Histone, Cell Cycle Proteins, Article, Young Adult, De Lange Syndrome, Intellectual Disability, Intellectual disability, Image Processing, Computer-Assisted, Genetics, medicine, Humans, Abnormalities, Multiple, Child, Genetics (clinical), business.industry, Racial Groups, Infant, Newborn, Long philtrum, Infant, NIPBL, medicine.disease, Dermatology, Phenotype, medicine.anatomical_structure, Chondroitin Sulfate Proteoglycans, Child, Preschool, Face, Mutation, Anteverted nares, Upper limb, Female, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ccbf12bd40a1dec434611422057ad4dTest
https://doi.org/10.1002/ajmg.a.61033Test

المؤلفون: Jinglan Liu, Zhe Zhang, Masashige Bando, Takehiko Itoh, Matthew A Deardorff, Dinah Clark, Maninder Kaur, Stephany Tandy, Tatsuro Kondoh, Eric Rappaport, Nancy B Spinner, Hugo Vega, Laird G Jackson, Katsuhiko Shirahige, Ian D Krantz

المصدر: PLoS Biology, Vol 7, Iss 5, p e1000119 (2009)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC2680332?pdf=renderTest; https://doaj.org/toc/1544-9173Test; https://doaj.org/toc/1545-7885Test

الوصول الحر: https://doaj.org/article/07391626c2d540a2bf2e7dfb3880f66cTest

المؤلفون: Palle Schelde, Amy M. Breman, Else Marie Vestergaard, Elizabeth A. Normand, Chad A. Shaw, Rui Chen, Ignatia B. Van den Veyver, Steen Kølvraa, Sadeem Qdaisat, Li Zhao, Lotte Hatt, Niels Uldbjerg, Laird G. Jackson, Ripudaman Singh, Arthur L. Beaudet

المصدر: Prenatal Diagnosis. 36:1127-1134

مصطلحات موضوعية: 0301 basic medicine, Whole Genome Amplification, Fetus, 030219 obstetrics & reproductive medicine, Copy number analysis, Obstetrics and Gynecology, Prenatal diagnosis, In situ hybridization, Biology, Molecular biology, Genome, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Single-cell analysis, embryonic structures, Genetics (clinical), Comparative genomic hybridization

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::de39c4df20564b065cc02fa59be1b1f1Test
https://doi.org/10.1002/pd.4948Test

المؤلفون: Alison M. Elliott, Sarah Bowdin, Leslie G. Biesecker, Margaret P. Adam, Amy E. Roberts, Ian A. Glass, Fuki M. Hisama, John W. Belmont, Sharon E. Plon, Miriam G. Blitzer, Adel Gilbert, Gail E. Herman, Laird G. Jackson, Matthew A. Deardorff, Heidi L. Rehm, Alisha Wilkens, Cynthia C. Morton, Emma Bedoukian, Louanne Hudgins, Laurie A. Demmer, Cheryl Shuman, Christian R. Marshall, John J. Mulvihill, Christopher Carew, Mindy H. Li, Raymond H. Kim, Darrel Waggoner, D James Stavropoulos, Lisa C.A. D'Alessandro, Lucia A. Hindorff, David H. Ledbetter, A. Micheil Innes, Ronald D. Cohn, Nasim Monfared, Bruce R. Korf, Gail P. Jarvik, Hans T. Bjornsson, Livija Medne, Nancy B. Spinner, Barbara A. Bernhardt, Kathleen Valverde, Gerald L. Feldman, M. Stephen Meyn, Eriskay Liston, Ian D. Krantz

المصدر: Genetics in Medicine. 18:1075-1084

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Scope of practice, Genetics, Medical, Genetic counseling, Genetic Counseling, Genomics, Context (language use), Bioinformatics, Article, 03 medical and health sciences, medicine, Humans, Exome, Genetics (clinical), Medical education, Genome, Human, business.industry, High-Throughput Nucleotide Sequencing, Geneticist, Precision medicine, Human genetics, 030104 developmental biology, Medical genetics, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5dd913bb58ec111d17e2a72a84ed4641Test
https://doi.org/10.1038/gim.2016.17Test

المؤلفون: Sadeem Qdaisat, Amy M. Breman, Lance U’Ren, Ron Seubert, Rachel H. V. Needham, Rui Chen, Ignatia B. Van den Veyver, Jeffrey L. Werbin, Elizabeth Chang, David M. Henke, Laird G. Jackson, Jackie L. Stilwell, Arthur L. Beaudet, Li Zhao, Liesbeth Vossaert, Eric P. Kaldjian, Jennifer C. Chow, Chad A. Shaw, Daniel Campton, Yaping Yang, Elizabeth A. Normand

المصدر: Prenatal Diagnosis

مصطلحات موضوعية: 0301 basic medicine, Male, DNA Copy Number Variations, Prenatal diagnosis, Biology, Y chromosome, 03 medical and health sciences, Chromosome 15, 0302 clinical medicine, Pregnancy, medicine, Humans, Confined placental mosaicism, Genotyping, Genetics (clinical), Chromosome Aberrations, Fetus, Comparative Genomic Hybridization, 030219 obstetrics & reproductive medicine, Obstetrics and Gynecology, Original Articles, Sequence Analysis, DNA, medicine.disease, Molecular biology, Healthy Volunteers, Trophoblasts, 030104 developmental biology, Feasibility Studies, Original Article, Female, Trisomy, Maternal Serum Screening Tests, Comparative genomic hybridization

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::977b909b27768010ff2a007390c40558Test
http://europepmc.org/articles/PMC5129580Test

المؤلفون: Matthew A. Deardorff, Samantha A. Schrier Vergano, Drew M. Johnson, Sarah E. Noon, Sarika Aggarwal, Devanshi Mehta, Nathan F. Miller, Ian D. Krantz, Laird G. Jackson, Akash Barot, Maninder Kaur

المصدر: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 172:155-162

مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Cornelia de Lange Syndrome, Genetic counseling, Limb Deformities, Congenital, Congenital Abnormalities, 03 medical and health sciences, Forearm, De Lange Syndrome, Genetics, medicine, Humans, Upper Extremity Deformities, Congenital, Syndactyly, Child, Genetics (clinical), Retrospective Studies, business.industry, NIPBL, Anatomy, medicine.disease, Hypoplasia, body regions, Developmental disorder, 030104 developmental biology, medicine.anatomical_structure, Mutation, Etiology, Cognition Disorders, business, Lower Extremity Deformities, Congenital

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::174ad38c2585b5ef0cd8671bf060238bTest
https://doi.org/10.1002/ajmg.c.31498Test

المؤلفون: Beverly S. Emanuel, Daniel L. Van Dyke, Athena M. Cherry, Maximillian Muenke, Laird G. Jackson, Cynthia C. Morton, Roger E. Stevenson, H. Eugene Hoyme, Uta Francke, Frederick R. Bieber, Cynthia M. Powell, P. Nagesh Rao, Stuart Schwartz, Hope H. Punnett

المصدر: Genetics in Medicine. 19:294-296

مصطلحات موضوعية: 0301 basic medicine, Genetics, medicine.medical_specialty, business.industry, Genetics, Medical, Specialty, MEDLINE, Genomics, United States, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Specialty Boards, 030220 oncology & carcinogenesis, Genome Biology, Humans, Medicine, Medical genetics, Laboratories, business, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8295f9cfc4e6644a2adc4439292b9c8Test
https://doi.org/10.1038/gim.2016.171Test

المؤلفون: Matthew A. Deardorff, 坂東 優篤, Masashige Bando, Ryuichiro Nakato, Erwan Watrin, 伊藤 武彦, Takehiko Itoh, 南野 雅, Masashi Minamino, Katsuya Saitoh, 古俣 麻希子, Makiko Komata, 加藤 由起, Yuki Katou, Dinah Clar1, Kathryn E. Cole, Elfride De Baere, Christophe Decroos, Nataliya Di Donato, Sarah Ernst, Lauren J. Francey, Yolanda Gyftodimou, Kyotaro Hirashima, Melanie Hullings1, Yuuichi Ishikawa, Christian Jaulin, Maninder Kaur, Tohru Kiyono, Patrick M. Lombardi6, Laura Magnaghi-Jaulin4, Geert R. Mortier, Naohito Nozaki, Michael B. Petersen, Hiroyuki Seimiya, Victoria M. Siu, Yutaka Suzuki, Kentaro Takagaki, Jonathan J. Wilde, Patrick J. Willems, Claude Prigent, Gabriele Gillessen-Kaesbach, David W. Christianson, Frank J. Kaiser, Laird G. Jackson, Toru Hirota, Krantz Ian D., Ian D. Krantz, 白髭 克彦, Katsuhiko Shirahige

العلاقة: http://t2r2.star.titech.ac.jp/cgi-bin/publicationinfo.cgi?q_publication_content_number=CTT100747049Test; oai:t2r2.star.titech.ac.jp:50377639

الإتاحة: http://t2r2.star.titech.ac.jp/cgi-bin/publicationinfo.cgi?q_publication_content_number=CTT100747049Test

المؤلفون: Liu Jinglan, Jinglan Liu, Zhang Zhe, Zhe Zhang, 坂東 優篤, Masashige Bando, 伊藤 武彦, Takehiko Itoh, Deardorff Matthew A., Matthew A. Deardorff, Clark Dinah, Dinah Clark, Kaur Maninder, Maninder Kaur, Stephany Tandy, 近藤 達郎, Kondo Tatsuro, Eric Rappaport, Spinner Nancy B., Nancy B. Spinner, Vega Hugo, Hugo Vega, Jackson Laird G., Laird G. Jackson, 白髭 克彦, Katsuhiko Shirahige, Krantz Ian D., Ian D. Krantz

العلاقة: http://t2r2.star.titech.ac.jp/cgi-bin/publicationinfo.cgi?q_publication_content_number=CTT100747062Test; oai:t2r2.star.titech.ac.jp:50377652

الإتاحة: http://t2r2.star.titech.ac.jp/cgi-bin/publicationinfo.cgi?q_publication_content_number=CTT100747062Test

المؤلفون: Jinglan Liu, Zhe Zhang, 坂東優篤, Masashige Bando, 伊藤武彦, Takehiko Itoh, Matthew A. Deardorff, Jennifer R. Li, Dinah Clark, Maninder Kaur, Kondo Tatsuro, Antonie D. Kline, Celia Chang, Hugo Vega, Laird G. Jackson, Nancy B. Spinner, 白髭克彦, Katsuhiko Shirahige, Ian D. Krantz

العلاقة: http://t2r2.star.titech.ac.jp/cgi-bin/publicationinfo.cgi?q_publication_content_number=CTT100747061Test; oai:t2r2.star.titech.ac.jp:50377651

الإتاحة: http://t2r2.star.titech.ac.jp/cgi-bin/publicationinfo.cgi?q_publication_content_number=CTT100747061Test