المؤلفون: Ciro Acosta S, Díaz-Ordóñez L, Gutierrez-Medina JD, Silva-Cuero YK, Arango-Vélez LG, García-Trujillo AO, Pachajoa H

المصدر: The Application of Clinical Genetics, Vol Volume 17, Pp 23-32 (2024)

مصطلحات موضوعية: eye, lcat, cholesterol/trafficking, genomics, vldl, lecithin cholesterol acyltransferase deficiency, lcat deficiency, alpha-lcat deficiency, fish eye disease., Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.dovepress.com/familial-lcat-deficiency-and-low-hdl-c-levels-in-silico-characterizati-peer-reviewed-fulltext-article-TACG; https://doaj.org/toc/1178-704X

URL الوصول: https://doaj.org/article/7478282521b644af9444988cd5740ed4

المؤلفون: Rodriguez-Rojas LX, Candelo E, Pachajoa H, Garcia-Robledo JE, Nastasi-Catanese JA, Olave-Rodriguez JA, Zambrano AR

المصدر: The Application of Clinical Genetics, Vol Volume 16, Pp 53-62 (2023)

مصطلحات موضوعية: mutyh mutations, familial cancer, heterozygote mutyh mutation, colombia, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.dovepress.com/the-unique-spectrum-of-mutyh-germline-mutations-in-colombian-patients--peer-reviewed-fulltext-article-TACG; https://doaj.org/toc/1178-704X

URL الوصول: https://doaj.org/article/2fa8f172ac6b4449ad1de43d05531d08

المؤلفون: Pachajoa H, Gomez-Pineda E, Giraldo-Ocampo S, Lores J

المصدر: Pharmacogenomics and Personalized Medicine, Vol Volume 15, Pp 913-918 (2022)

مصطلحات موضوعية: neurodevelopmental disorder, zeb2, genetic disorder, multiple congenital disorder, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: https://www.dovepress.com/mowat-wilson-syndrome-as-a-differential-diagnosis-in-patients-with-con-peer-reviewed-fulltext-article-PGPM; https://doaj.org/toc/1178-7066

URL الوصول: https://doaj.org/article/710e3a0da4fa4e15b35048f5cd50a2d2

المؤلفون: Pachajoa H, Giraldo-Ocampo S

المصدر: Orthopedic Research and Reviews, Vol Volume 14, Pp 453-458 (2022)

مصطلحات موضوعية: genetic skeletal disorders, ifitm5, osteogenesis imperfecta, brittle bone disease, case report, Orthopedic surgery, RD701-811, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

Relation: https://www.dovepress.com/a-patient-with-bone-fragility-multiple-fractures-osteosarcoma-and-the--peer-reviewed-fulltext-article-ORR; https://doaj.org/toc/1179-1462

URL الوصول: https://doaj.org/article/b1ad9cd9045a40feb83fa45a9165c09c

المؤلفون: Perafan-Valdes L, Giraldo-Ocampo S, Lores J, Pachajoa H

المصدر: Pharmacogenomics and Personalized Medicine, Vol Volume 15, Pp 873-878 (2022)

مصطلحات موضوعية: tumor predisposition syndrome, cafe-au-lait macules, external genitalia development, colombia, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: https://www.dovepress.com/neurofibromatosis-type-1-and-hypospadias-in-a-male-46-xy-with-a-mutati-peer-reviewed-fulltext-article-PGPM; https://doaj.org/toc/1178-7066

URL الوصول: https://doaj.org/article/6d40121f69ac461a93537faf8ad47e41

المؤلفون: Giraldo-Ocampo S, Pacheco-Orozco RA, Pachajoa H

المصدر: The Application of Clinical Genetics, Vol Volume 15, Pp 63-68 (2022)

مصطلحات موضوعية: whsus, neurodevelopmental disorder, colombia, case report., Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.dovepress.com/a-novel-pogz-variant-in-a-patient-with-intellectual-disability-and-obe-peer-reviewed-fulltext-article-TACG; https://doaj.org/toc/1178-704X

URL الوصول: https://doaj.org/article/e74705a377854093b9fb130a06bd7ab9

المؤلفون: Aristizábal E, Diaz-Ordóñez L, Candelo E, Pachajoa H

المصدر: The Application of Clinical Genetics, Vol Volume 14, Pp 409-416 (2021)

مصطلحات موضوعية: kabuki syndrome, coloboma, rare disease, rna splicing, sensorineural hearing loss, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.dovepress.com/a-novel-intronic-kmt2d-variant-as-a-cause-of-kabuki-syndrome-a-case-re-peer-reviewed-fulltext-article-TACG; https://doaj.org/toc/1178-704X

URL الوصول: https://doaj.org/article/b6f39e1de09244ffb283a5b7ec0b72e1

المؤلفون: Candelo E, Estrada-Mesa MA, Jaramillo A, Martinez-Cajas CH, Osorio JC, Pachajoa H

المصدر: The Application of Clinical Genetics, Vol Volume 14, Pp 267-277 (2021)

مصطلحات موضوعية: digeorge syndrome, 22q11.2 deletion, oral manifestations, facial dysmorphism, case report, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.dovepress.com/the-oral-health-of-patients-with-digeorge-syndrome-22q11-microdeletion-peer-reviewed-fulltext-article-TACG; https://doaj.org/toc/1178-704X

URL الوصول: https://doaj.org/article/8d2d5ffc56234e5198649c4de6e8f48e

المؤلفون: Díaz-Ordóñez L, Ramírez-Montaño D, Candelo E, González-Restrepo C, Silva-Peña S, Rojas CA, Sepulveda Copete M, Echavarria HR, Pachajoa H

المصدر: Pharmacogenomics and Personalized Medicine, Vol Volume 14, Pp 509-520 (2021)

مصطلحات موضوعية: single nucleotide polymorphism, cytochrome p450 cyp2c19, pharmacogenetics, computational biology, treatment failure, proton pump inhibitors, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: https://www.dovepress.com/evaluation-of-cyp2c19-gene-polymorphisms-in-patients-with-acid-peptic--peer-reviewed-fulltext-article-PGPM; https://doaj.org/toc/1178-7066

URL الوصول: https://doaj.org/article/104ba073ebdc488e8c28099038c6f775

المؤلفون: Pachajoa H, Claros-Hulbert A, García-Quintero X, Perafan L, Ramirez A, Zea-Vera AF

المصدر: The Application of Clinical Genetics, Vol Volume 13, Pp 159-164 (2020)

مصطلحات موضوعية: hgps, progeria, premature aging, genetic assessment, laminopathy, treatment, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.dovepress.com/hutchinsonndashgilford-progeria-syndrome-clinical-and-molecular-charac-peer-reviewed-article-TACG; https://doaj.org/toc/1178-704X

URL الوصول: https://doaj.org/article/44d5c08e98de42598b7684abe0c5146e

المؤلفون: Torres-Canchala L, Castaño D, Silva N, Gómez AM, Victoria A, Pachajoa H

المصدر: The Application of Clinical Genetics, Vol Volume 13, Pp 147-150 (2020)

مصطلحات موضوعية: pfeiffer syndrome, acrocephalosyndactylia, craniosynostosis, fibroblast growth factor receptor 2, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.dovepress.com/prenatal-diagnosis-of-pfeiffer-syndrome-patient-with-fgfr2-c940-1ggtc--peer-reviewed-article-TACG; https://doaj.org/toc/1178-704X

URL الوصول: https://doaj.org/article/23986e9273044230823e1c319835d07b

المؤلفون: Pachajoa H, Perafan L, Ramos I, Escobar ÁJ

المصدر: International Journal of Women's Health, Vol Volume 12, Pp 675-679 (2020)

مصطلحات موضوعية: trisomy, trisomy 20p, chromosome duplication, duplication 20p, comparative genomic hybridization, uterine anomalies, Gynecology and obstetrics, RG1-991

وصف الملف: electronic resource

Relation: https://www.dovepress.com/laparoscopic-hysterectomy-and-bilateral-salpingectomy-in-a-patient-wit-peer-reviewed-article-IJWH; https://doaj.org/toc/1179-1411

URL الوصول: https://doaj.org/article/e7f372fc03554542b921abdd9205cd0f

المؤلفون: Pinilla-Monsalve GD, Lores J, Pachajoa H, López-Ponce de León JD, López A, Rodríguez-Rojas LX, Nastasi-Catanese JA

المصدر: The Application of Clinical Genetics, Vol Volume 13, Pp 63-69 (2020)

مصطلحات موضوعية: hypertriglyceridemia, hyperlipoproteinemia type i, apolipoprotein c-ii, pancreatitis [mesh]., Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.dovepress.com/a-novel-apoc2-mutation-in-a-colombian-patient-with-recurrent-hypertrig-peer-reviewed-article-TACG; https://doaj.org/toc/1178-704X

URL الوصول: https://doaj.org/article/fe7a7f920bfb4aa694e8409c3cc88085

المؤلفون: Forero-Delgadillo JM, Cleves D, Ochoa V, Londoño-Correa H, Restrepo JM, Nastasi-Catanese JA, Pachajoa H

المصدر: The Application of Clinical Genetics, Vol Volume 13, Pp 57-62 (2020)

مصطلحات موضوعية: xlhr, phex gene, colombia, pediatric, rickets, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.dovepress.com/phex-gene-mutation-in-a-patient-with-x-linked-hypophosphatemic-rickets-peer-reviewed-article-TACG; https://doaj.org/toc/1178-704X

URL الوصول: https://doaj.org/article/a20c0e58446541888f2d3de629616d53

المؤلفون: Candelo E, Caicedo G, Rosso F, Ballesteros A, Orrego J, Escobar L, Lapunzina P, Nevado J, Pachajoa H

المصدر: The Application of Clinical Genetics, Vol Volume 12, Pp 141-150 (2019)

مصطلحات موضوعية: Colombia, microcephaly, whole exome sequencing, Zika virus infection, vertical transmission, brain abnormalities, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.dovepress.com/first-report-case-with-negative-genetic-study-array-cgh-exome-sequenci-peer-reviewed-article-TACG; https://doaj.org/toc/1178-704X

URL الوصول: https://doaj.org/article/c25e9bcbf11f4c18b50de4834efe3257

المؤلفون: Ríos-Serna LJ, Díaz-Ordoñez L, Candelo E, Pachajoa H

المصدر: The Application of Clinical Genetics, Vol Volume 11, Pp 157-162 (2018)

مصطلحات موضوعية: Holt–Oram syndrome, hand-heart syndrome, de novo mutation, TBX5, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.dovepress.com/a-novel-de-novo-tbx5nbspmutation-in-a-patient-with-holtndashoram-syndr-peer-reviewed-article-TACG; https://doaj.org/toc/1178-704X

URL الوصول: https://doaj.org/article/fb9db945dc684da88d2bc4edb2bc3ba3

المؤلفون: Vanegas S, Sua LF, López-Tenorio J, Ramírez-Montaño D, Pachajoa H

المصدر: The Application of Clinical Genetics, Vol Volume 11, Pp 69-73 (2018)

مصطلحات موضوعية: Achondrogenesis type IA, endochondral bone, TRIP11, GMAP-210, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.dovepress.com/achondrogenesis-type-1a-clinical-histologic-molecular-and-prenatal-ult-peer-reviewed-article-TACG; https://doaj.org/toc/1178-704X

URL الوصول: https://doaj.org/article/10cad9d1518d4423b857defc90175272

المؤلفون: Tapiero-Rodriguez SM, Acosta Guio JC, Porras-Hurtado GL, García N, Solano M, Pachajoa H, Velasco HM

المصدر: The Application of Clinical Genetics, Vol Volume 11, Pp 45-57 (2018)

مصطلحات موضوعية: Mucopolysaccharidosis IVA, Morquio syndrome, GALNS, lysosomal storage disorder, mutation., Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.dovepress.com/determination-of-genotypic-and-clinical-characteristics-of-colombian-p-peer-reviewed-article-TACG; https://doaj.org/toc/1178-704X

URL الوصول: https://doaj.org/article/3bf4880d6a114cfda310ce4a9f1487e0

المؤلفون: Pachajoa H, López-Quintero W, Vanegas S, Montoya CL, Ramírez-Montaño D

المصدر: The Application of Clinical Genetics, Vol Volume 11, Pp 15-21 (2018)

مصطلحات موضوعية: Hypertrichosis, Acromegaloid features, AFA syndrome, Cantú Syndrome, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.dovepress.com/novel-mutation-in-abbc9-gene-associated-with-congenital-hypertrichosis-peer-reviewed-article-TACG; https://doaj.org/toc/1178-704X

URL الوصول: https://doaj.org/article/9eb0a878725843a49ced4ae895e9cb04

المؤلفون: Gargano MA, Matentzoglu N, Coleman B, Addo-Lartey EB, Anagnostopoulos AV, Anderton J, Avillach P, Bagley AM, Bakstein E, Balhoff JP, Baynam G, Bello SM, Berk M, Bertram H, Bishop S, Blau H, Bodenstein DF, Botas P, Boztug K, Cady J, Callahan TJ, Cameron R, Carbon SJ, Castellanos F, Caufield JH, Chan LE, Chute CG, Cruz-Rojo J, Dahan-Oliel N, Davids JR, de Dieuleveult M, de Souza V, de Vries BBA, de Vries E, DePaulo JR, Derfalvi B, Dhombres F, Diaz-Byrd C, Dingemans AJM, Donadille B, Duyzend M, Elfeky R, Essaid S, Fabrizzi C, Fico G, Firth HV, Freudenberg-Hua Y, Fullerton JM, Gabriel DL, Gilmour K, Giordano J, Goes FS, Moses RG, Green I, Griese M, Groza T, Gu W, Guthrie J, Gyori B, Hamosh A, Hanauer M, Hanusova K, He YO, Hegde H, Helbig I, Holasova K, Hoyt CT, Huang S, Hurwitz E, Jacobsen JOB, Jiang X, Joseph L, Keramatian K, King B, Knoflach K, Koolen DA, Kraus ML, Kroll C, Kusters M, Ladewig MS, Lagorce D, Lai M-C, Lapunzina P, Laraway B, Lewis-Smith D, Li X, Lucano C, Majd M, Marazita ML, Martinez-Glez V, McHenry TH, McInnis MG, McMurry JA, Mihulova M, Millett CE, Mitchell PB, Moslerova V, Narutomi K, Nematollahi S, Nevado J, Nierenberg AA, Cajbikova NN, Nurnberger JI, Ogishima S, Olson D, Ortiz A, Pachajoa H, Perez de Nanclares G, Peters A, Putman T, Rapp CK, Rath A, Reese J, Rekerle L, Roberts AM, Roy S, Sanders SJ, Schuetz C, Schulte EC, Schulze TG, Schwarz M, Scott K, Seelow D, Seitz B, Shen Y, Similuk MN, Simon ES, Singh B, Smedley D, Smith CL, Smolinsky JT, Sperry S, Stafford E, Stefancsik R, Steinhaus R, Strawbridge R, Sundaramurthi JC, Talapova P, Tenorio Castano JA, Tesner P, Thomas RH, Thurm A, Turnovec M, van Gijn ME, Vasilevsky NA, Vlckova M, Walden A, Wang K, Wapner R, Ware JS, Wiafe AA, Wiafe SA, Wiggins LD, Williams AE, Wu C, Wyrwoll MJ, Xiong H, Yalin N, Yamamoto Y, Yatham LN, Yocum AK, Young AH, Yuksel Z, Zandi PP, Zankl A, Zarante I, Zvolsky M, Toro S, Carmody LC, Harris NL, Munoz-Torres MC, Danis D, Mungall CJ, Kohler S, Haendel MA, Robinson PN

المصدر: Nucleic Acids Research, 5 January 2024

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/296284; https://eprints.ncl.ac.uk/fulltext.aspx?url=296284/715F87BA-90BC-4041-B6C2-A1BE5E3DD824.pdf&pub_id=296284

الاتاحة: https://eprints.ncl.ac.uk/296284