المؤلفون: Fateme Asadzadeh Manjili, Mohammad Hosein Bakhshi Aliabad, Seyed Mehdi Kalantar, Afsaneh Sahebzamani, Amin Safa

المصدر: International Journal of Basic Science in Medicine, Vol 2, Iss 3, Pp 113-122 (2017)

مصطلحات موضوعية: Rickets, Mutation, Phosphate, Genetic, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: http://ijbsm.zbmu.ac.ir/PDF/ijbsm-2160Test; https://doaj.org/toc/2476-664XTest

الوصول الحر: https://doaj.org/article/afba2ae01e8b40eb8381934717ecdcb7Test

المؤلفون: Sheng-Jia Lin, Barbara Vona, Patricia G. Barbalho, Rauan Kaiyrzhanov, Reza Maroofian, Cassidy Petree, Mariasavina Severino, Valentina Stanley, Pratishtha Varshney, Paulina Bahena, Fatema Alzahrani, Amal Alhashem, Alistair T. Pagnamenta, Gudrun Aubertin, Juvianee I. Estrada-Veras, Héctor Adrián Díaz Hernández, Neda Mazaheri, Andrea Oza, Jenny Thies, Deborah L. Renaud, Sanmati Dugad, Jennifer McEvoy, Tipu Sultan, Lynn S. Pais, Brahim Tabarki, Daniel Villalobos-Ramirez, Aboulfazl Rad, J.C. Ambrose, P. Arumugam, M. Bleda, F. Boardman-Pretty, C.R. Boustred, H. Brittain, M.J. Caulfield, G.C. Chan, T. Fowler, A. Giess, A. Hamblin, S. Henderson, T.J.P. Hubbard, R. Jackson, L.J. Jones, D. Kasperaviciute, M. Kayikci, A. Kousathanas, L. Lahnstein, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, L. Moutsianas, M. Mueller, N. Murugaesu, A.C. Need, P. O‘Donovan, C.A. Odhams, C. Patch, D. Perez-Gil, M.B. Pereira, J. Pullinger, T. Rahim, A. Rendon, T. Rogers, K. Savage, K. Sawant, R.H. Scott, A. Siddiq, A. Sieghart, S.C. Smith, A. Sosinsky, A. Stuckey, M. Tanguy, E.R.A. Thomas, S.R. Thompson, A. Tucci, E. Walsh, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, Hamid Galehdari, Farah Ashrafzadeh, Afsaneh Sahebzamani, Kolsoum Saeidi, Erin Torti, Houda Z. Elloumi, Sara Mora, Timothy B. Palculict, Hui Yang, Jonathan D. Wren, null Ben Fowler, Manali Joshi, Martine Behra, Shawn M. Burgess, Swapan K. Nath, Michael G. Hanna, Margaret Kenna, J. Lawrence Merritt, Henry Houlden, Ehsan Ghayoor Karimiani, Maha S. Zaki, Thomas Haaf, Fowzan S. Alkuraya, Joseph G. Gleeson, Gaurav K. Varshney

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 23(10)

مصطلحات موضوعية: Genetics, Lysine-tRNA Ligase, biology, Disease, biology.organism_classification, medicine.disease, Phenotype, Human genetics, Disease Models, Animal, Neurodevelopmental Disorders, medicine, Missense mutation, Autism, Animals, Humans, Allele, Hearing Loss, Zebrafish, Genetics (clinical), Gene knockout, Alleles

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91f3ae350cc512f0b956a6e8d9210c51Test
https://pubmed.ncbi.nlm.nih.gov/34172899Test

المؤلفون: Seyed Mehdi Kalantar, Fateme Asadzadeh Manjili, Amin Safa, Mohammad Hosein Bakhshi Aliabad, Afsaneh Sahebzamani

المصدر: International Journal of Basic Science in Medicine, Vol 2, Iss 3, Pp 113-122 (2017)

مصطلحات موضوعية: medicine.medical_specialty, lcsh:R5-920, business.industry, PHEX, Parathyroid hormone, Rickets, Phosphate, medicine.disease, Bioinformatics, DMP1, Hypophosphatemic Rickets, Endocrinology, Genetic, Internal medicine, Mutation, medicine, Vitamin D and neurology, business, lcsh:Medicine (General), Gene, Hypophosphatemia

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35015f7ed8c6e6569fd3176c9dffbbd0Test
http://ijbsm.zbmu.ac.ir/PDF/ijbsm-2160Test

المؤلفون: Peter O. Bauer, Ahmet Okay Caglayan, Gülhan Ercan-Sencicek, Kolsoum Saeidi, Valentina Stanley, Joseph G. Gleeson, Maryam Najafi, Abolfazl Rad, Reza Maroofian, Kiely N. James, Hülya Kayserili, Rose-Mary Boustany, Zeineb Bakey, Murat Gunel, Natalie S. Hauser, Gozde Yesil, Rebecca Miller, Afsaneh Sahebzamani, Miriam Schmidts, Kaman Wu, Umut Altunoglu

المساهمون: YEŞİL, Gözde, Karabey, Hülya Kayserili (ORCID 0000-0003-0376-499X & YÖK ID 7945), Rad, Abolfazl, Altunoğlu, Umut, Miller, Rebecca, Maroofian, Reza, James, Kiely N., Çağlayan, Ahmet Okay, Najafi, Maryam, Stanley, Valentina, Boustany, Rose-Mary, Yeşil, Gözde, Sahebzamani, Afsaneh, Ercan-Şençiçek, Gülhan, Saeidi, Kolsoum, Wu, Kaman, Bauer, Peter, Bakey, Zeineb, Gleeson, Joseph G., Hauser, Natalie, Günel, Murat, Schmidts, Miriam, School of Medicine, Department of Medical Genetics

المصدر: Journal of Medical Genetics
Journal of Medical Genetics, 56, 5, pp. 332-339
Journal of Medical Genetics, 56, 332-339

مصطلحات موضوعية: 0301 basic medicine, Male, Models, Molecular, Microcephaly, Pathology, Protein Conformation, 030105 genetics & heredity, Consanguinity, Neurodevelopmental disorder, Loss of Function Mutation, Child, Cerebellar hypoplasia, Genetics (clinical), Exome sequencing, Developmental Defects, Homozygote, Brain, Syndrome, Disease gene identification, Magnetic Resonance Imaging, Pedigree, Phenotype, Agenesis, Cerebello-Oculo-Facio-genital (COFG) syndrome, Child, Preschool, Female, medicine.symptom, medicine.medical_specialty, Ataxia, corneal dystrophy, Pontocerebellar hypoplasia, Polymorphism, Single Nucleotide, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, Exome Sequencing, Rad A., Altunoglu U., Miller R., Maroofian R., James K. N. , Caglayan A. O. , Najafi M., Stanley V., Boustany R., YEŞİL G., et al., -MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome)-, JOURNAL OF MEDICAL GENETICS, cilt.56, ss.332-339, 2019, Genetics, medicine, scrotal/labial aplasia, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Genetic Association Studies, MAB21L1, Homeodomain Proteins, Medicine, Genetics and heredity, business.industry, pontocerebellar hypoplasia, Facies, Infant, medicine.disease, Corneal dystrophy, Scrotal/labial aplasia, 030104 developmental biology, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], Neurodevelopmental Disorders, business

وصف الملف: application/pdf; pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d5a13715fc2f5c3dc0a1bc5fdccecd4Test
https://hdl.handle.net/20.500.12645/10376Test

المؤلفون: Stefan Mundlos, Alexej Knaus, Jochen Hecht, Daniel M. Ibrahim, Malte Spielmann, Naeimeh Tayebi, Afsaneh Sahebzamani, Asita C. Stiege

المصدر: American Journal of Medical Genetics Part A. 170:615-621

مصطلحات موضوعية: Adult, Male, Models, Molecular, 0301 basic medicine, Heterozygote, Molecular Sequence Data, Mutation, Missense, Gene Expression, Electrophoretic Mobility Shift Assay, Consanguinity, Biology, 03 medical and health sciences, Genetics, medicine, Humans, Missense mutation, Exome, Carpal Bones, Genetics (clinical), Exome sequencing, Homeodomain Proteins, Base Sequence, Brachydactyly, Homozygote, High-Throughput Nucleotide Sequencing, Metacarpal Bones, medicine.disease, Synpolydactyly, Pedigree, 030104 developmental biology, HOXD13, Child, Preschool, Mutation (genetic algorithm), Female, Syndactyly, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3190df941f5b4e43e7cd8a87c2a7c073Test
https://doi.org/10.1002/ajmg.a.37464Test