المؤلفون: VanderMeer, Julia E, Lozano, Reymundo, Sun, Miao, Xue, Yuan, Daentl, Donna, Jabs, Ethylin Wang, Wilcox, William R, Ahituv, Nadav

المصدر: Human Mutation. 35(8)

مصطلحات موضوعية: Biological Sciences, Genetics, Rare Diseases, Congenital Structural Anomalies, Clinical Research, Human Genome, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Animals, Base Sequence, Female, Gene Dosage, Genotype, Hand Deformities, Congenital, Heterozygote, Homozygote, Humans, Membrane Proteins, Mexico, Mice, Molecular Sequence Data, Mutation, Pedigree, Phenotype, Polydactyly, Thumb, ZRS, enhancer, SHH, preaxial polydactyly, Werner mesomelic syndrome, Enhancer, Preaxial polydactyly, Clinical Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/1hg9n9t4Test

المؤلفون: Pangilinan, Faith, Molloy, Anne M, Mills, James L, Troendle, James F, Parle-McDermott, Anne, Signore, Caroline, O’Leary, Valerie B, Chines, Peter, Seay, Jessica M, Geiler-Samerotte, Kerry, Mitchell, Adam, VanderMeer, Julia E, Krebs, Kristine M, Sanchez, Angelica, Cornman-Homonoff, Joshua, Stone, Nicole, Conley, Mary, Kirke, Peadar N, Shane, Barry, Scott, John M, Brody, Lawrence C

المصدر: BMC Medical Genetics. 13(1)

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/3gs5c78kTest

المؤلفون: VanderMeer, Julia E, Afzal, Muhammad, Alyas, Saadia, Haque, Sayedul, Ahituv, Nadav, Malik, Sajid

المصدر: American Journal of Medical Genetics Part A, vol 158A. (8)

مصطلحات موضوعية: Congenital Structural Anomalies, Prevention, Genetics, Clinical Research, Pediatric, Enhancer Elements, Genetic, Female, Hand Deformities, Congenital, Hedgehog Proteins, Humans, Male, Membrane Proteins, Mutation, Pakistan, Pedigree, polydactyly, triphalangeal thumb, syndactyly, ZRS, Clinical Sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/24f6723zTest

المؤلفون: Booker, Betty M, Friedrich, Tara, Mason, Mandy K, VanderMeer, Julia E, Zhao, Jingjing, Eckalbar, Walter L, Logan, Malcolm, Illing, Nicola, Pollard, Katherine S, Ahituv, Nadav

المصدر: PLOS Genetics ; http://journals.plos.org/plosgeneticsTest

مصطلحات موضوعية: Multiple alignment calculation, Sequence motif analysis, Sequence alignment, Embryos, Bats, Mammalian genomics, Sequence analysis, Vertebrates

وصف الملف: application/pdf

العلاقة: http://dx.doi.org/10.1371/journal.pgen.1005738Test; http://hdl.handle.net/11427/18857Test; https://open.uct.ac.za/bitstream/11427/18857/1/Booker_Bat_Accelerated_Regions_2016.pdfTest

الإتاحة: https://doi.org/10.1371/journal.pgen.1005738Test
http://hdl.handle.net/11427/18857Test
https://open.uct.ac.za/bitstream/11427/18857/1/Booker_Bat_Accelerated_Regions_2016.pdfTest

المؤلفون: Eckalbar, Walter L, Schlebusch, Stephen A, Mason, Mandy K, Gill, Zoe, Parker, Ash V, Booker, Betty M, Nishizaki, Sierra, Muswamba-Nday, Christiane, Terhune, Elizabeth, Nevonen, Kimberly A, Makki, Nadja, Friedrich, Tara, VanderMeer, Julia E, Pollard, Katherine S, Carbone, Lucia, Wall, Jeff D, Illing, Nicola, Ahituv, Nadav

المصدر: Nature Genetics ; volume 48, issue 5, page 528-536 ; ISSN 1061-4036 1546-1718

مصطلحات موضوعية: Genetics

الإتاحة: https://doi.org/10.1038/ng.3537Test
http://www.nature.com/articles/ng.3537.pdfTest
http://www.nature.com/articles/ng.3537Test

المؤلفون: Pangilinan Faith, Molloy Anne M, Mills James L, Troendle James F, Parle-McDermott Anne, Signore Caroline, O’Leary Valerie B, Chines Peter, Seay Jessica M, Geiler-Samerotte Kerry, Mitchell Adam, VanderMeer Julia E, Krebs Kristine M, Sanchez Angelica, Cornman-Homonoff Joshua, Stone Nicole, Conley Mary, Kirke Peadar N, Shane Barry, Scott John M, Brody Lawrence C

المصدر: BMC Medical Genetics, Vol 13, Iss 1, p 62 (2012)

مصطلحات موضوعية: Neural tube defects, Spina bifida, Folic acid, One-carbon metabolism, Candidate gene, Internal medicine, RC31-1245, Genetics, QH426-470

العلاقة: http://www.biomedcentral.com/1471-2350/13/62Test; https://doaj.org/toc/1471-2350Test; https://doaj.org/article/14391033b1bb42c582a303b3ef1720c5Test

الإتاحة: https://doi.org/10.1186/1471-2350-13-62Test
https://doaj.org/article/14391033b1bb42c582a303b3ef1720c5Test

المؤلفون: Pangilinan, Faith, Molloy, Anne M, Mills, James L, Troendle, James F, Parle-McDermott, Anne, Signore, Caroline, O’Leary, Valerie B, Chines, Peter, Seay, Jessica M, Geiler-Samerotte, Kerry, Mitchell, Adam, VanderMeer, Julia E, Krebs, Kristine M, Sanchez, Angelica, Cornman-Homonoff, Joshua, Stone, Nicole, Conley, Mary, Kirke, Peadar N, Shane, Barry, Scott, John M, Brody, Lawrence C

مصطلحات موضوعية: Neural tube defects, Spina bifida, Folic acid, One-carbon metabolism, Candidate gene

العلاقة: http://www.biomedcentral.com/1471-2350/13/62Test

الإتاحة: http://www.biomedcentral.com/1471-2350/13/62Test

المؤلفون: Clarke, Shoa L., VanderMeer, Julia E., Wenger, Aaron M., Schaar, Bruce T., Ahituv, Nadav, Bejerano, Gill

المساهمون: Brosius, Jürgen

المصدر: PLoS Genetics ; volume 8, issue 8, page e1002852 ; ISSN 1553-7404

الإتاحة: https://doi.org/10.1371/journal.pgen.1002852Test

المؤلفون: VanderMeer, Julia E., Ahituv, Nadav

المصدر: Developmental Dynamics ; volume 240, issue 5, page 920-930 ; ISSN 1058-8388 1097-0177

الإتاحة: https://doi.org/10.1002/dvdy.22535Test

المؤلفون: VanderMeer, Julia E., Carter, Tonia C., Pangilinan, Faith, Mitchell, Adam, Kurnat‐Thoma, Emma, Kirke, Peadar N., Troendle, James F., Molloy, Anne M., Munger, Ronald G., Feldkamp, Marcia L., Mansilla, Maria A., Mills, James L., Murray, Jeff C., Brody, Lawrence C.

المساهمون: National Institute of Dental and Craniofacial Research

المصدر: American Journal of Medical Genetics Part A ; volume 170, issue 4, page 1007-1016 ; ISSN 1552-4825 1552-4833

الإتاحة: https://doi.org/10.1002/ajmg.a.37539Test