المؤلفون: Frank, DN, Giese, APJ, Hafren, L, Bootpetch, TC, Yarza, TKL, Steritz, MJ, Pedro, M, Labra, PJ, Daly, KA, Tantoco, MLC, Szeremeta, W, Reyes-Quintos, MRT, Ahankoob, N, Llanes, EGDV, Pine, HS, Yousaf, S, Ir, D, Einarsdottir, E, de la Cruz, RAR, Lee, NR, Nonato, RMA, Robertson, CE, Ong, KMC, Magno, JPM, Chiong, ANE, Espiritu-Chiong, MC, San Agustin, ML, Cruz, TLG, Abes, GT, Bamshad, MJ, Cutiongco-de la Paz, EM, Kere, J, Nickerson, DA, Mohlke, KL, Riazuddin, S, Chan, A, Mattila, PS, Leal, SM, Ryan, AF, Ahmed, ZM, Chonmaitree, T, Sale, MM, Chiong, CM, Santos-Cortez, RLP

المصدر: Journal of medical genetics. 58(7):442-452

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:147228556

المؤلفون: Hirsch, SD, Elling, CL, Bootpetch, TC, Scholes, MA, Hafren, L, Streubel, SO, Pine, HS, Wine, TM, Szeremeta, W, Prager, JD, Einarsdottir, E, Yousaf, A, Baschal, EE, Rehman, S, Bamshad, MJ, Nickerson, DA, Riazuddin, S, Leal, SM, Ahmed, ZM, Yoon, PJ, Kere, J, Chan, KH, Mattila, PS, Friedman, NR, Chonmaitree, T, Frank, DN, Ryan, AF, Santos-Cortez, RLP

المصدر: Journal of molecular medicine (Berlin, Germany). 99(11):1571-1583

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:147183910

المؤلفون: Wiesen, BM, Hafren, L, Einarsdottir, E, Kere, J, Mattila, PS, Santos-Cortez, RLP

المصدر: Genetic testing and molecular biomarkers. 23(11):823-827

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:142255673

المؤلفون: Larson, ED, Magno, JPM, Steritz, MJ, Llanes, EGD, Cardwell, J, Pedro, M, Roberts, TB, Einarsdottir, E, Rosanes, RAQ, Greenlee, C, Santos, RAP, Yousaf, A, Streubel, SO, Santos, ATR, Ruiz, AG, Lagrana-Villagracia, SM, Ray, D, Yarza, TKL, Scholes, MA, Anderson, CB, Acharya, A, Gubbels, SP, Bamshad, MJ, Cass, SP, Lee, NR, Shaikh, RS, Nickerson, DA, Mohlke, KL, Prager, JD, Cruz, TLG, Yoon, PJ, Abes, GT, Schwartz, DA, Chan, AL, Wine, TM, Cutiongco-de la Paz, EM, Friedman, N, Kechris, K, Kere, J, Leal, SM, Yang, IV, Patel, JA, Tantoco, MLC, Riazuddin, S, Chan, KH, Mattila, PS, Reyes-Quintos, MRT, Ahmed, ZM, Jenkins, HA, Chonmaitree, T, Hafren, L, Chiong, CM, Santos-Cortez, RLP

المصدر: Human mutation. 40(8):1156-1171

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:141602477

المؤلفون: Santos-Cortez, RLP, Chiong, CM, Frank, DN, Ryan, AF, Giese, APJ, Roberts, TB, Daly, KA, Steritz, MJ, Szeremeta, W, Pedro, M, Pine, H, Yarza, TKL, Scholes, MA, Llanes, EGDV, Yousaf, S, Friedman, N, Tantoco, MLC, Wine, TM, Labra, PJ, Benoit, J, Ruiz, AG, de la Cruz, RAR, Greenlee, C, Yousaf, A, Cardwell, J, Nonato, RMA, Ray, D, Ong, KMC, So, E, Robertson, CE, Dinwiddie, J, Lagrana-Villagracia, SM, Gubbels, SP, Shaikh, RS, Cass, SP, Einarsdottir, E, Lee, NR, Schwartz, DA, Gloria-Cruz, TLI, Bamshad, MJ, Yang, IV, Kere, J, Abes, GT, Prager, JD, Riazuddin, S, Chan, AL, Yoon, PJ, Nickerson, DA, Cutiongco-de la Paz, EM, Streubel, SO, Reyes-Quintos, MRT, Jenkins, HA, Mattila, P, Chan, KH, Mohlke, KL, Leal, SM, Hafren, L, Chonmaitree, T, Sale, MM, Ahmed, ZM

المصدر: American journal of human genetics. 103(5):679-690

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:139492432

المؤلفون: Bootpetch, TC, Hafren, L, Elling, CL, Baschal, EE, Manichaikul, AW, Pine, HS, Szeremeta, W, Scholes, MA, Cass, SP, Larson, ED, Chan, KH, Ishaq, R, Prager, JD, Shaikh, RS, Gubbels, SP, Yousaf, A, Wine, TM, Bamshad, MJ, Yoon, PJ, Jenkins, HA, Nickerson, DA, Streubel, SO, Friedman, NR, Frank, DN, Einarsdottir, E, Kere, J, Riazuddin, S, Daly, KA, Leal, SM, Ryan, AF, Mattila, PS, Ahmed, ZM, Sale, MM, Chonmaitree, T, Santos-Cortez, RLP

المصدر: Scientific reports. 10(1):15035

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:144713429

المؤلفون: Ayesha Imtiaz, Atteeq U. Rehman, Asma A. Khan, Robert J. Morell, Deborah A. Nickerson, Khurram Liaqat, Saima Riazuddin, Isabelle Schrauwen, Muhammad Ansar, Anushree Acharya, Shahid Niaz Khan, Takla C, Rafeeq M, Saba Zafar, Wasim Ahmad, Izoduwa Abbe, Kwanghyuk Lee, Taimur Chaudhry, Imen Chakchouk, Thomas B. Friedman, Suzanne M. Leal, Rabia Faridi, Santos-Cortez Rlp, Mohsin Shahzad, Michael J. Bamshad, Elodie Richard, Zubair M. Ahmed

المصدر: Human Mutation. 40:53-72

مصطلحات موضوعية: Male, Hearing loss, Genetic counseling, Genes, Recessive, Pedigree chart, Biology, Compound heterozygosity, Article, Consanguinity, 03 medical and health sciences, Chromosome Segregation, otorhinolaryngologic diseases, Genetics, medicine, Humans, Family, Genetic Predisposition to Disease, Pakistan, Hearing Loss, Genotyping, Genetics (clinical), Exome sequencing, 030304 developmental biology, 0303 health sciences, 030305 genetics & heredity, Human genetics, Pedigree, Mutation, Female, Allelic heterogeneity, medicine.symptom

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::831ca66fca170b9387b432d0d9e4036d
https://doi.org/10.1002/humu.23666

المؤلفون: Abid Jan, Muhammad Salman Chishti, Sabba Mehmood, Richard A. Spritz, Santos-Cortez Rlp, Farooq Ahmad, Muhammad Ansar, Shaheen Shahzad, Wasim Ahmad, Paul Coucke, Hussain Ali R, Asad Ullah Khan, Izoduwa Abbe, Kwanghyuk Lee, Michael J. Bamshad, Khadim Shah, Suzanne M. Leal, Deborah A. Nickerson

المصدر: International Journal of Dermatology. 56:1406-1413

مصطلحات موضوعية: Male, 0301 basic medicine, DNA Mutational Analysis, Lipoxygenase, Filaggrin Proteins, Ichthyosis Vulgaris, Consanguinity, 030207 dermatology & venereal diseases, Blister, 0302 clinical medicine, INDEL Mutation, Intermediate Filament Proteins, Exome, Exome sequencing, Sanger sequencing, Genetics, integumentary system, Ichthyosis, Homozygote, Nuclear Proteins, Skin Diseases, Genetic, 1-Acylglycerol-3-Phosphate O-Acyltransferase, Disease gene identification, Aldehyde Oxidoreductases, Epidermolysis Bullosa Dystrophica, Neoplasm Proteins, Pedigree, DNA-Binding Proteins, Phenotype, symbols, Female, Epidermolysis Bullosa, Collagen Type VII, Dermatology, Lipid Metabolism, Inborn Errors, Article, Mitochondrial Proteins, 03 medical and health sciences, symbols.namesake, Rare Diseases, Muscular Diseases, medicine, Humans, Protoporphyrinogen Oxidase, Photosensitivity Disorders, Gene, Periodontal Diseases, Xeroderma Pigmentosum, Flavoproteins, business.industry, Keratin-14, Genodermatosis, Membrane Proteins, Ichthyosiform Erythroderma, Congenital, Endonucleases, medicine.disease, Sjogren-Larsson Syndrome, 030104 developmental biology, Epidermolysis Bullosa Simplex, Porphyria, Variegate, business, Ichthyosis, Lamellar, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47257500b46c6f1326d22c2511d47a62
https://doi.org/10.1111/ijd.13778

المؤلفون: Izoduwa Abbe, Jarral A, Kwanghyuk Lee, Tahir Th, Ghazanfar Ali, Muhammad Ansar, Zahid Latif, Michael J. Bamshad, Imen Chakchouk, Suzanne M. Leal, Isabelle Schrauwen, Anushree Acharya, Muhammad Nasim Khan, Insaf Bel Hadj Ali, Ehsan Ullah, Deborah A. Nickerson, Wasim Ahmad, Santos-Cortez Rlp

المصدر: Investigative Ophthalmology & Visual Science

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, genetic structures, Genetic Linkage, Mutation, Missense, Genes, Recessive, Biology, Cataract, DEAD-box RNA Helicases, Young Adult, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Exome Sequencing, Retinitis pigmentosa, Genetics, medicine, Humans, Missense mutation, early onset autosomal recessive retinitis pigmentosa, linkage analysis, retinal dystrophy, Gene, DHX38, Genetic Association Studies, Exome sequencing, mendelian disease, Sanger sequencing, Genetic heterogeneity, Nucleotide Mapping, Computational Biology, Sequence Analysis, DNA, medicine.disease, Phenotype, eye diseases, Pedigree, Ophthalmoscopy, 030104 developmental biology, RNA splicing, symbols, Female, RNA Splicing Factors, Retinitis Pigmentosa, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0baa3e7e5791aef543dad7a821654e3d
https://doi.org/10.1167/iovs.18-23849

المؤلفون: Lee, K, Chiu, I, Santos-Cortez, RLP, Basit, S, Khan, S, Azeem, Z, Andrade, PB, Kim, SS, Ahmad, W, Leal, SM

مصطلحات موضوعية: Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::d7c670190b53049bc6f1b06414ab6754
https://europepmc.org/articles/PMC6220893/