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1دورية أكاديمية
المؤلفون: Sepideh Mehvari, Nahid Karimian Fathi, Maryam Asadnezhad, Sanaz Arzhangi, Saeed Sadeghian, Mohammadali Boroumand, Fatemeh Shokohizadeh, Elham Rostami, Rahnama Boroumand, Reza Malekzadeh, Yasser Riazalhosseini, Mohammadreza Akbari, Mark Lathrop, Hossein Najmabadi, Kaveh Hosseini, Kimia Kahrizi
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101188- (2024)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774424003340Test; https://doaj.org/toc/2949-7744Test
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2دورية أكاديمية
المؤلفون: Sepideh Mehvari, Farzaneh Larti, Hao Hu, Zohreh Fattahi, Maryam Beheshtian, Seyedeh Sedigheh Abedini, Sanaz Arzhangi, Hans‐Hilger Ropers, Vera M. Kalscheuer, Daniel Auld, Kimia Kahrizi, Yasser Riazalhosseini, Hossein Najmabadi
المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)
مصطلحات موضوعية: intellectual disability, whole genome sequencing, Xq duplication, Xq13.2q13.3, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2324-9269Test
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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: Hans-Hilger Ropers, Sepideh Mehvari, Zohreh Fattahi, Maryam Beheshtian, Daniel Auld, Hossein Najmabadi, Yasser Riazalhosseini, Kimia Kahrizi, Farzaneh Larti, Vera M. Kalscheuer, Sanaz Arzhangi, Seyedeh Sedigheh Abedini, Hao Hu
المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicineمصطلحات موضوعية: 0301 basic medicine, Male, Monocarboxylic Acid Transporters, Candidate gene, lcsh:QH426-470, Ubiquitin-Protein Ligases, Nerve Tissue Proteins, 030105 genetics & heredity, Biology, Short stature, Clinical Reports, 03 medical and health sciences, Genetic linkage, Intellectual disability, Gene duplication, Chromosome Duplication, Genetics, medicine, Humans, Copy-number variation, Genetic Testing, Molecular Biology, Genetics (clinical), X chromosome, Whole genome sequencing, Chromosomes, Human, X, whole genome sequencing, Clinical Report, Symporters, Xq13.2q13.3, Genetic Diseases, X-Linked, Xq duplication, medicine.disease, Pedigree, lcsh:Genetics, 030104 developmental biology, intellectual disability, medicine.symptom
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::264a9b90c82a2282868ebc35d2bb59b9Test
https://doaj.org/article/1cdd4c65b15846df92f9152a83a6f484Test -
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المؤلفون: Seyedeh Sedigheh Abedini, Vera M. Kalscheuer, Sanaz Arzhangi, Hossein Najmabadi, Zohreh Fattahi, Maryam Beheshtian, Reza Najafipour, Hao Hu, K. Kahrizi, Mahsa Fadaee, Hans-Hilger Ropers, Payman Jamali, Sepideh Mehvari, Tara Akhtarkhavari, Marzieh Mohseni
مصطلحات موضوعية: Oncology, Correlation, medicine.medical_specialty, Deficiency syndrome, business.industry, Internal medicine, medicine, business, Genotype phenotype, Large cohort
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d2734ea1b931976edfad46c62c71fff2Test
https://doi.org/10.1111/cge.13845/v2/response1Test -
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المؤلفون: Seyedeh Sedigheh Abedini, Zohreh Fattahi, Kimia Kahrizi, Maryam Beheshtian, Hossein Najmabadi, Marzieh Mohseni, Sepideh Mehvari, Payman Jamali, Tara Akhtarkhavari, Hans-Hilger Ropers, Vera M. Kalscheuer, Hao Hu, Sanaz Arzhangi, Mahsa Fadaee, Reza Najafipour
المصدر: Clinical Genetics: an international journal of genetics in medicine
مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Microcephaly, Adolescent, Adaptor Protein Complex 4, Consanguinity, 030105 genetics & heredity, Iran, Quadriplegia, Corpus Callosum, Cohort Studies, 03 medical and health sciences, Internal medicine, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Spasticity, Global developmental delay, Child, Spastic tetraplegia, Genetics (clinical), Genetic Association Studies, business.industry, Brain, medicine.disease, Phenotype, Pedigree, 030104 developmental biology, Child, Preschool, Mutation, Female, medicine.symptom, business, Ventriculomegaly
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5958a9bf613c5dd0194e04fdadb32f9eTest
https://pubmed.ncbi.nlm.nih.gov/32895917Test -
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المؤلفون: Sarah Azimi, Leila Nouri Vahid, Krystyna Keleman, Pooneh Nikuei, Tara Akhtarkhavari, Thomas F. Wienker, Beate Albrecht, Hossein Khodaei, Mohammad Reza Ebrahimpour, Mohammad Javad Soltani Banavandi, Marzieh Mohseni, Vanessa Suckow, Aria Jankhah, Milad Bastami, Behzad Davarnia, Vera M. Kalscheuer, Farzaneh Larti, Saeide Akbari, Kimia Kahrizi, Jamileh Rezazadeh Varaghchi, Bettina Lipkowitz, Sanaz Arzhangi, Morteza Oladnabi, Monika Cohen, Sabine Otto, Zohreh Fattahi, Luciana Musante, Payman Jamali, Maryam Beheshtian, Masoumeh Hosseini, Maryam Taghdiri, Wei Chen, Seyedeh Sedigheh Abedini, Bernd Timmermann, Hans-Hilger Ropers, Andreas Tzschach, Gholamreza Bahrami, Birgit Zirn, Hossein Najmabadi, Dagmar Wieczorek, Ingrid Bader, Gabriele Gillessen-Kaesbach, Cornelia Oppitz, Elaheh Papari, Hao Hu, Ralf Herwig, Fatemeh Pourfatemi, Jutta Gärtner, Faezeh Mojahedi, Hossein Dehghani, Sepideh Mehvari, Seyed Hassan Tonekaboni
المصدر: Molecular Psychiatry
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Medizin, Genes, Recessive, Consanguinity, Iran, Biology, DNA sequencing, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Intellectual Disability, Exome Sequencing, Intellectual disability, medicine, Humans, Exome, Family, Protein Interaction Maps, Molecular Biology, Gene, De novo mutations, Affected offspring, Whole genome sequencing, Genetics, Whole Genome Sequencing, Homozygote, High-Throughput Nucleotide Sequencing, Middle Aged, medicine.disease, Pedigree, Psychiatry and Mental health, 030104 developmental biology, Mutation, Female, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eda29e76af95f3244bac3fef885f1ad6Test
https://hdl.handle.net/21.11116/0000-0000-638A-5Test -
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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: Kimia Kahrizi, Hao Hu, Masoumeh Hosseini, Vera M. Kalscheuer, Zohreh Fattahi, Maryam Beheshtian, Vanessa Suckow, Marzieh Mohseni, Bettina Lipkowitz, Sepideh Mehvari, Zohreh Mehrjoo, Tara Akhtarkhavari, Zhila Ghaderi, Maryam Rahimi, Sanaz Arzhangi, Payman Jamali, Milad Falahat Chian, Pooneh Nikuei, Farahnaz Sabbagh Kermani, Farnaz Sadeghinia, Roshanak Jazayeri, Seyed Hassan Tonekaboni, Atefeh Khoshaeen, Haleh Habibi, Fatemeh Pourfatemi, Faezeh Mojahedi, Mohammad-Reza Khodaie-Ardakani, Reza Najafipour, Thomas F. Wienker, Hossein Najmabadi, Hans-Hilger Ropers