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المؤلفون: Payman Jamali, Zhila Ghaderi, Hans-Hilger Ropers, Haleh Habibi, Fatemeh Pourfatemi, Farahnaz Sabbagh Kermani, Zohreh Mehrjoo, Kimia Kahrizi, Farnaz Sadeghinia, Hao Hu, Vera M. Kalscheuer, Bettina Lipkowitz, Reza Najafipour, Sanaz Arzhangi, Maryam Rahimi, Pooneh Nikuei, Atefeh Khoshaeen, Marzieh Mohseni, Masoumeh Hosseini, Hossein Najmabadi, Vanessa Suckow, Milad Falahat Chian, Faezeh Mojahedi, Sepideh Mehvari, Zohreh Fattahi, Maryam Beheshtian, Roshanak Jazayeri, Mohammad-Reza Khodaie-Ardakani, S. Hassan Tonekaboni, Tara Akhtarkhavari, Thomas F. Wienker
المصدر: Clinical Genetics: an international journal of genetics in medicine
مصطلحات موضوعية: Male, 0301 basic medicine, Genes, Recessive, Iran, 030105 genetics & heredity, Biology, Carrier testing, Consanguinity, Middle East, 03 medical and health sciences, Intellectual Disability, Exome Sequencing, Intellectual disability, Genetics, medicine, Humans, Exome, Family, Inbreeding, Genetics (clinical), De novo mutations, Exome sequencing, High rate, Homozygote, Disease gene identification, medicine.disease, Pedigree, 030104 developmental biology, Parental consanguinity, Mutation, Female
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7d18258ca62a6b38f16c652a132bcc0Test
https://doi.org/10.1111/cge.13463Test -
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المؤلفون: Raheleh Vazehan, Hans-Hilger Ropers, Elham Parsimehr, Zahra Kalhor, Seyedeh Sedighe Abedini, Mahboubeh Kamgar, Faezeh Mojahedi, K. Kahrizi, Ariana Kariminejad, Farahnaz Sabbagh Kermani, Mahsa Fadaee, Zohreh Fattahi, Vera M. Kalscheuer, Mehrshid Faraji Zonooz, Maryam Beheshtian, Sanaz Arzhangi, Shokouh Sadat Mahdavi, Payman Jamali, Hossein Najmabadi
مصطلحات موضوعية: Genetics, Intellectual disability, medicine, Gene family, Identification (biology), Disease, Biology, medicine.disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::fff711e3ecf3e7c1323f891e04ae0d9fTest
https://doi.org/10.1111/cge.13549/v2/response1Test -
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المؤلفون: Shokouh Sadat Mahdavi, Ariana Kariminejad, Hossein Najmabadi, Raheleh Vazehan, Kimia Kahrizi, Payman Jamali, Seyedeh Sedigheh Abedini, Faezeh Mojahedi, Mehrshid Faraji Zonooz, Hans-Hilger Ropers, Vera M. Kalscheuer, Sanaz Arzhangi, Mahsa Fadaee, Zohreh Fattahi, Maryam Beheshtian, Zahra Kalhor, Mahboubeh Kamgar, Farahnaz Sabbagh Kermani, Elham Parsimehr
المصدر: Clinical genetics. 95(6)
مصطلحات موضوعية: 0301 basic medicine, Male, Genes, Recessive, Disease, 030105 genetics & heredity, Biology, Iran, Cohort Studies, 03 medical and health sciences, Consanguinity, Intellectual Disability, Clinical information, Intellectual disability, Exome Sequencing, Genetics, medicine, Gene family, Humans, Family, Child, Genetics (clinical), Rna processing, Exosome Multienzyme Ribonuclease Complex, fungi, Infant, medicine.disease, Phenotype, humanities, Pedigree, 030104 developmental biology, Child, Preschool, Mutation, Neurodevelopmental delay, Identification (biology), Female, geographic locations
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5be9382d026910f03d344ebb541d28e9Test
https://pubmed.ncbi.nlm.nih.gov/30950035Test -
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المؤلفون: Mohammad-Reza Khodaie-Ardakani, Farahnaz Sabbagh Kermani, K. Kahrizi, Roshanak Jazayeri, Pooneh Nikuei, Payman Jamali, Masoumeh Hosseini, Faezeh Mojahedi, Tara Akhtarkhavari, Zhila Ghaderi, Sepideh Mehvari, Atefeh Khoshaeen, Zohreh Fattahi, Marzieh Mohseni, Maryam Beheshtian, Zohreh Mehrjoo, Haleh Habibi, Vera M. Kalscheuer, Hao Hu, Bettina Lipkowitz, Hossein Najmabadi, Sanaz Arzhangi, Fatemeh Pourfatemi, Thomas F. Wienker, Vanessa Suckow, Seyed Hassan Tonekaboni, Hans-Hilger Ropers, Farnaz Sadeghinia, Reza Najafipour, Maryam Rahimi, Milad Falahat Chian
مصطلحات موضوعية: Intellectual disability, medicine, Psychology, medicine.disease, Inbreeding, Genealogy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::000e3618e22f42b36e7c1116d71c1d08Test
https://doi.org/10.1111/cge.13463/v2/response1Test -
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المؤلفون: Elise Valkanas, Hon-Yin Brian Chung, Peter Farndon, Patricia M. Zerfas, Oliver Bartsch, Martin Zenker, Jeroen Bakkers, Alexander Hoischen, Feliciano J. Ramos, Eva Bermejo-Sánchez, Haigen Huang, Gijs van Haaften, Lynne A. Wolfe, Taylor Davis, Eduarda Morgana da Silva, Han G. Brunner, W. K. Jacyk, Bruno Dallapiccola, Laura Mazzanti, Cathy A. Stevens, Mieke M. van Haelst, Hanka Venselaar, Cornelius F. Boerkoel, Francesco Brancati, Cynthia J. Tifft, May Christine V. Malicdan, Nathalie Roche, Bert B.A. de Vries, Victor Evangelista de Faria Ferraz, Chyi-Chia Richard Lee, Brian P. Brooks, Farahnaz Sabbagh-Kermani, Federico Tessadori, Denny Schanze, Barbara N. Pusey, Ariana Kariminejad, Valerie Maduro, Janice Lee, Giovanna Zambruno, Shuo Lin, Cédric Le Caignec, Thomas C. Markello, Maria Tsokos, Shannon Marchegiani, Fabiana Martins, William A. Gahl, Anneke T. Vulto-van Silfhout
المساهمون: Other departments, Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D), MUMC+: DA Klinische Genetica (5), RS: GROW - Developmental Biology, RS: GROW - R4 - Reproductive and Perinatal Medicine, Marchegiani, Shannon, Davis, Taylor, Tessadori, Federico, Van Haaften, Gij, Brancati, Francesco, Hoischen, Alexander, Huang, Haigen, Valkanas, Elise, Pusey, Barbara, Schanze, Denny, Venselaar, Hanka, Vulto-Van Silfhout, Anneke T., Wolfe, Lynne A., Tifft, Cynthia J., Zerfas, Patricia M., Zambruno, Giovanna, Kariminejad, Ariana, Sabbagh-Kermani, Farahnaz, Lee, Janice, Tsokos, Maria G., Lee, Chyi-Chia R., Ferraz, Victor, Da Silva, Eduarda Morgana, Stevens, Cathy A., Roche, Nathalie, Bartsch, Oliver, Farndon, Peter, Bermejo-Sanchez, Eva, Brooks, Brian P., Maduro, Valerie, Dallapiccola, Bruno, Ramos, Feliciano J., Chung, Hon-Yin Brian, Le Caignec, Cédric, Martins, Fabiana, Jacyk, Witold K., Mazzanti, Laura, Brunner, Han G., Bakkers, Jeroen, Lin, Shuo, Malicdan, May Christine V., Boerkoel, Cornelius F., Gahl, William A., De Vries, Bert B.A., Van Haelst, Mieke M., Zenker, Martin, Markello, Thomas C., Hubrecht Institute for Developmental Biology and Stem Cell Research
المصدر: American Journal of Human Genetics, 97, 1, pp. 99-110
Marchegiani, S, Davis, T, Tessadori, F, van Haaften, G, Brancati, F, Hoischen, A, Huang, H, Valkanas, E, Pusey, B, Schanze, D, Venselaar, H, Vulto-van Silfhout, A T, Wolfe, L A, Tifft, C J, Zerfas, P M, Zambruno, G, Kariminejad, A, Sabbagh-Kermani, F, Lee, J, Tsokos, M G, Lee, C-C R, Ferraz, V, da Silva, E M, Stevens, C A, Roche, N, Bartsch, O, Farndon, P, Bermejo-Sanchez, E, Brooks, B P, Maduro, V, Dallapiccola, B, Ramos, F J, Chung, H-Y B, Le Caignec, C, Martins, F, Jacyk, W K, Mazzanti, L, Brunner, H G, Bakkers, J, Lin, S, Malicdan, M C V, Boerkoel, C F, Gahl, W A, de Vries, B B A, van Haelst, M M, Zenker, M & Markello, T C 2015, ' Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes ', American journal of human genetics, vol. 97, no. 1, pp. 99-110 . https://doi.org/10.1016/j.ajhg.2015.05.017Test
American Journal of Human Genetics, 97, 99-110
American Journal of Human Genetics, 97(1), 99. Cell Press
American journal of human genetics, 97(1), 99-110. Cell Press
American Journal of Human Genetics, 97(1), 99-110. Cell Press
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USPمصطلحات موضوعية: Models, Molecular, Candidate gene, Hirsutism, Protein Conformation, HeLa Cell, medicine.disease_cause, Transcriptome, Twist transcription factor, Models, Genetics(clinical), Exome, Eye Abnormalities, Non-U.S. Gov't, Genetics (clinical), Zebrafish, Genetics, Mutation, Microscopy, Macrostomia, Setleis syndrome, Hypertelorism, Research Support, Non-U.S. Gov't, Hypertrichosi, Eyelid Disease, GENÉTICA, Phenotype, Eyelid Diseases, Abnormalities, Multiple, Sequence Analysis, Human, Chromatin Immunoprecipitation, Molecular Sequence Data, Mutation, Missense, Hypertrichosis, Amino Acid Sequence, Animals, Base Sequence, HeLa Cells, Humans, Electron, Missense, Repressor Proteins, DNA, Skin Abnormalities, Twist Transcription Factor, Molecular, Other Research Radboud Institute for Molecular Life Sciences [Radboudumc 0], Biology, Research Support, Article, Frameshift mutation, Genetic, Ablepharon macrostomia syndrome, Skin Abnormalitie, medicine, Journal Article, Abnormalities, Multiple, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Animal, Twist-Related Protein 1, Sequence Analysis, DNA, Repressor Protein, medicine.disease, Eye Abnormalitie, Microscopy, Electron, sense organs, Nanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19]
وصف الملف: application/pdf; image/pdf; ELETTRONICO
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1749856e024ae1fd6a1491db82f32077Test
https://doi.org/10.1016/j.ajhg.2015.05.017Test -
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المؤلفون: Maryam Taghdiri, Nooshin Nikzat, Niloofar Bazzazadegan, Zohreh Fattahi, Batool Azadeh, Haleh Habibi, Kimia Kahrizi, Hossein Najmabadi, Farahnaz Sabbagh-Kermani, Atie Kashef, Atefeh Khoshaeen, Faezeh Mojahedi
المصدر: International Journal of Pediatric Otorhinolaryngology. 79:136-138
مصطلحات موضوعية: Heterozygote, Hearing loss, Locus (genetics), Deafness, Iran, Polymerase Chain Reaction, Connexins, Exon, otorhinolaryngologic diseases, medicine, Humans, Genetic Testing, Gene, Alleles, Genetic testing, Genetics, medicine.diagnostic_test, biology, Genetic heterogeneity, Heterozygote advantage, Sequence Analysis, DNA, General Medicine, Connexin 26, Phenotype, Otorhinolaryngology, Mutation, Pediatrics, Perinatology and Child Health, biology.protein, medicine.symptom, GJB6
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43f911245a71c02f427ea31d11087d98Test
https://doi.org/10.1016/j.ijporl.2014.11.024Test -
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المؤلفون: Farahnaz Sabbagh Kermani, Hossein Najmabadi, Narges Nouri, Atie Kashef, Shima Sahraian, Atefeh Khoshaeen, Faezeh Mojahedi, Mojgan Babanejad, Niloofar Bazazzadegan, Maryam Taghdiri, Kimia Kahrizi, Batool Azadeh, Payman Jamali, Hilda Yazdan, Richard J.H. Smith, Haleh Habibi, Zohreh Fattahi, Nicole C. Meyer, Farahnaz Reyhanifar, Nooshin Nikzat, Carla Nishimura
المصدر: International Journal of Pediatric Otorhinolaryngology. 76:1164-1174
مصطلحات موضوعية: Proband, Hearing loss, DNA Mutational Analysis, Population, Locus (genetics), Consanguinity, Iran, Connexins, Exon, Prevalence, otorhinolaryngologic diseases, Humans, Medicine, Allele, Hearing Loss, education, Genetics, education.field_of_study, Polymorphism, Genetic, business.industry, General Medicine, Cline (biology), Connexin 26, Otorhinolaryngology, Mutation, Pediatrics, Perinatology and Child Health, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9c0e2aeb3e8d0791170edd0a07206dcTest
https://doi.org/10.1016/j.ijporl.2012.04.026Test -
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المؤلفون: Hassan Vahidnezhad, Zohreh Fattahi, Ariana Kariminejad, Jouni Uitto, Rezvan Amiri, Farahnaz Sabbagh-Kermani, Mehrshid Faraji Zonooz, Hossein Najmabadi, Mohammad R. Akbari, Mahsa Fadaee
المصدر: The Journal of investigative dermatology. 136(6)
مصطلحات موضوعية: 0301 basic medicine, Male, Ruxolitinib, Genetic Linkage, Nicastrin, Dermatology, Vitiligo, Biochemistry, Genome, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Genetic linkage, Exome Sequencing, medicine, Humans, skin and connective tissue diseases, Molecular Biology, Exome sequencing, Genetics, Membrane Glycoproteins, integumentary system, biology, business.industry, Cell Biology, Alopecia areata, medicine.disease, Hidradenitis Suppurativa, 030104 developmental biology, Phenotype, Cancer research, biology.protein, Female, Amyloid Precursor Protein Secretases, business, Amyloid precursor protein secretase, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd3b4d609231b9fd54ba09e2eec52295Test
https://pubmed.ncbi.nlm.nih.gov/26968259Test -
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المؤلفون: Mahsa Fadaee, Farahnaz Sabbagh-Kermani, Hossein Najmabadi, M. Faraji Zonooz, Ariana Kariminejad, Zohreh Fattahi, M. Reza Akbari, Rezvan Amiri, Jouni Uitto, Hassan Vahidnezhad
المصدر: Journal of Investigative Dermatology. 136:S188
مصطلحات موضوعية: Genetics, Pathology, medicine.medical_specialty, medicine, Cell Biology, Dermatology, Biology, Molecular Biology, Biochemistry, Phenotype, Spectrum (topology)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::62a3903c84ead872f26cf2594d448b68Test
https://doi.org/10.1016/j.jid.2016.06.177Test -
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المؤلفون: Maryam Beheshtian, Zohreh Fattahi, Mahsa Fadaee, Raheleh Vazehan, Payman Jamali, Elham Parsimehr, Mahboubeh Kamgar, Mehrshid Faraji Zonooz, Shokouh Sadat Mahdavi, Zahra Kalhor, Sanaz Arzhangi, Seyedeh Sedighe Abedini, Farahnaz Sabbagh Kermani, Faezeh Mojahedi, Vera M. Kalscheuer, Hans Hilger Ropers, Ariana Kariminejad, Hossein Najmabadi, Kimia Kahrizi