المؤلفون: Schnur, Rhonda E., Yousaf, Sairah, Liu, James, Chung, Wendy K., Rhodes, Lindsay, Marble, Michael, Zambrano, Regina M., Sobreira, Nara, Jayakar, Parul, Pierpont, Mary Ella, Schultz, Matthew J., Pichurin, Pavel N., Olson, Rory J., Graham, Gail E., Osmond, Matthew, Contreras-García, Gustavo A., Campo-Neira, Karina A., Peñaloza-Mantilla, Camilo A., Flage, Mark, Kuppa, Srikar, Navarro, Karina, Sacoto, Maria J. Guillen, Wentzensen, Ingrid M., Scarano, Maria I., Juusola, Jane, Prada, Carlos E., Hufnagel, Robert B.

المصدر: Genetics in Medicine ; volume 23, issue 9, page 1624-1635 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/s41436-021-01182-1
https://www.nature.com/articles/s41436-021-01182-1.pdf
https://www.nature.com/articles/s41436-021-01182-1
https://api.elsevier.com/content/article/PII:S1098360021050899?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021050899?httpAccept=text/plain

المؤلفون: Carey, V. K., Nuttli, Anne, Palombo, Shannon B., Zambrano, Regina M., Johnson, Mary G.

المصدر: School of Medicine Faculty Publications

مصطلحات موضوعية: Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Musculoskeletal Diseases, Musculoskeletal System

Relation: https://digitalscholar.lsuhsc.edu/som_facpubs/2781

الاتاحة: https://digitalscholar.lsuhsc.edu/som_facpubs/2781
https://doi.org/10.1016/S0002-9629(23)00341-5

المؤلفون: Wood, Kirsten A., Zambrano, Regina M., Cheek, Bradley J., Arcement, Christopher, Haymon, Marie, Steinkampf, Jessica, Sampath, Srirangan, Hyland, James C., Lacassie, Yves

المصدر: Clinical Case Reports ; volume 5, issue 4, page 431-434 ; ISSN 2050-0904 2050-0904

الاتاحة: http://dx.doi.org/10.1002/ccr3.835
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fccr3.835
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.835

المؤلفون: Reeves, Ashley, Ojha, Kanwal, Meddaugh, Hannah, Zambrano, Regina M.

المصدر: School of Medicine Faculty Publications

مصطلحات موضوعية: distinctive facies, EXOSC2 gene, hearing loss, retinitis pigmentosa, short stature, SHRF, Pediatrics

Relation: https://digitalscholar.lsuhsc.edu/som_facpubs/455; https://doi.org/10.1002/ajmg.a.62964

الاتاحة: https://digitalscholar.lsuhsc.edu/som_facpubs/455
https://doi.org/10.1002/ajmg.a.62964

المؤلفون: Wall, Luke A., Zambrano, Regina M.

المصدر: Encyclopedia of Medical Immunology ; page 283-286 ; ISBN 9781461486770 9781461486787

الاتاحة: http://dx.doi.org/10.1007/978-1-4614-8678-7_190
http://link.springer.com/content/pdf/10.1007/978-1-4614-8678-7_190

المؤلفون: Schnur, Rhonda E, Yousaf, Sairah, Liu, James, Chung, Wendy K, Rhodes, Lindsay, Marble, Michael, Zambrano, Regina M, Sobreira, Nara, Jayakar, Parul, Pierpont, Mary Ella, Schultz, Matthew J, Pichurin, Pavel N, Olson, Rory J, Graham, Gail E, Osmond, Matthew, Contreras-García, Gustavo A, Campo-Neira, Karina A, Peñaloza-Mantilla, Camilo A, Flage, Mark, Kuppa, Srikar, Navarro, Karina, Sacoto, Maria J Guillen, Wentzensen, Ingrid M, Scarano, Maria I, Juusola, Jane, Prada, Carlos E, Hufnagel, Robert B

المصدر: Pediatrics Research and Scholarship

مصطلحات موضوعية: Abnormalities, Multiple, Animals, Ectodermal Dysplasia, Humans, Limb Deformities, Congenital, Ubiquitin-Activating Enzymes, Zebrafish

وصف الملف: application/pdf

Relation: https://digitalrepository.unm.edu/peds_pubs/554; https://digitalrepository.unm.edu/cgi/viewcontent.cgi?article=1545&context=peds_pubs

الاتاحة: https://digitalrepository.unm.edu/peds_pubs/554
https://digitalrepository.unm.edu/cgi/viewcontent.cgi?article=1545&context=peds_pubs

المؤلفون: Wall, Luke A., Zambrano, Regina M.

المصدر: Encyclopedia of Medical Immunology ; page 1-4 ; ISBN 9781461492092 9781461492092

الاتاحة: http://dx.doi.org/10.1007/978-1-4614-9209-2_190-2
http://link.springer.com/content/pdf/10.1007/978-1-4614-9209-2_190-2

المؤلفون: Meddaugh, Hannah R., Zambrano, Regina M.

المصدر: Clinical Dysmorphology ; volume 29, issue 2, page 104-106 ; ISSN 0962-8827

الاتاحة: http://dx.doi.org/10.1097/mcd.0000000000000297
https://journals.lww.com/10.1097/MCD.0000000000000297

المؤلفون: Casano, Kelsey, Meddaugh, Hannah, Zambrano, Regina M., Marble, Michael, Torres, Jairo I., Lacassie, Yves

المصدر: European Journal of Medical Genetics ; volume 63, issue 4, page 103842 ; ISSN 1769-7212

الاتاحة: http://dx.doi.org/10.1016/j.ejmg.2020.103842
https://api.elsevier.com/content/article/PII:S1769721219303118?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1769721219303118?httpAccept=text/plain

المؤلفون: Wall, Luke A., Zambrano, Regina M.

المصدر: Encyclopedia of Medical Immunology ; page 1-4 ; ISBN 9781461492092 9781461492092

الاتاحة: http://dx.doi.org/10.1007/978-1-4614-9209-2_190-1
http://link.springer.com/content/pdf/10.1007/978-1-4614-9209-2_190-1

المؤلفون: Wood, Kirsten A, Zambrano, Regina M, Cheek, Bradley J, Arcement, Christopher, Haymon, Marie, Steinkampf, Jessica, Sampath, Srirangan, Hyland, James C, Lacassie, Yves

المصدر: Department of Pathology & Laboratory Medicine

مصطلحات موضوعية: Department of Pathology and Laboratory Medicine, Medicine and Health Sciences

Relation: https://scholarlyworks.lvhn.org/pathology-laboratory-medicine/1068; https://pubmed.ncbi.nlm.nih.gov/28396763/

الاتاحة: https://scholarlyworks.lvhn.org/pathology-laboratory-medicine/1068
https://pubmed.ncbi.nlm.nih.gov/28396763/

المؤلفون: Yu, Andrea C., Zambrano, Regina M., Cristian, Ingrid, Price, Sue, Bernhard, Birgitta, Zucker, Marc, Venkateswaran, Sunita, McGowan‐Jordan, Jean, Armour, Christine M.

المصدر: American Journal of Medical Genetics Part A ; volume 173, issue 6, page 1593-1600 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.38241
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.38241
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38241

المؤلفون: Zambrano, Regina M., Wohler, Elizabeth, Annerén, Göran, Thuresson, Ann-Charlotte, Cutting, Garry R., Batista, Denise A.

المصدر: European Journal of Medical Genetics. 54(2):189-193

مصطلحات موضوعية: Unbalanced translocation t(9, 16), Developmental delay, Pericentric inversion 9, Homologous Recombination, Array-CGH, SNP Array, Deletion 9q34, Duplication 16p13, MEDICINE, Dermatology and venerology, clinical genetics, internal medicine, Clinical genetics, MEDICIN, Dermatologi och venerologi, klinisk genetik, invärtesmedicin, Klinisk genetik

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-158193

المؤلفون: Zambrano, Regina M., Marble, Michael, Chalew, Stuart A., Lilje, Christian, Vargas, Alfonso, Lacassie, Yves

المصدر: American Journal of Medical Genetics Part A ; volume 173, issue 2, page 565-567 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.38056
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.38056
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38056

المؤلفون: Murphy, Heidi, Patrick, Jessica, Báez-Irizarry, Eileen, Lacassie, Yves, Gómez, Ricardo, Vargas, Alfonso, Barkemeyer, Brian, Kanotra, Sohit, Zambrano, Regina M.

المصدر: European Journal of Medical Genetics ; volume 59, issue 4, page 227-231 ; ISSN 1769-7212

الاتاحة: http://dx.doi.org/10.1016/j.ejmg.2016.02.001
https://api.elsevier.com/content/article/PII:S176972121630012X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S176972121630012X?httpAccept=text/plain

المؤلفون: Meddaugh, Hannah R., Zambrano, Regina M.

المصدر: Clinical Dysmorphology; April 2020, Vol. 29 Issue: 2 p104-106, 3p

المؤلفون: Zambrano, Regina M., Marble, Michael, Chalew, Stuart A., Lilje, Christian, Vargas, Alfonso, Lacassie, Yves

المصدر: American Journal of Medical Genetics. Part A; Feb2017, Vol. 173 Issue 2, p565-567, 3p