Zobrazeno 1 - 10 of 146 pro vyhledávání: '"Missense heterozygous variants"'
1
Genetic and functional study of CNTNAP2/Caspr2 in autism spectrum disorders
Autor: Canali, Giorgia
Publikováno v: Human health and pathology. Sorbonne Université, 2019. English. ⟨NNT : 2019SORUS050⟩
Autism spectrum disorders (ASD) are neurodevelopmental disorders characterised by deficits in social communication and repetitive behaviours. Alterations in brain connectivity are the most replicated findings in ASD patients. The CNTNAP2 gene, coding
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::871aae61fc70b611852f42d8b3ab5e44
https://tel.archives-ouvertes.fr/tel-03357693/document
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2
Etude génétique et fonctionnelle de CNTNAP2 / Caspr2 dans les troubles du spectre autistique
Autor: Canali, Giorgia
Publikováno v: Human health and pathology. Sorbonne Université, 2019. English. ⟨NNT : 2019SORUS050⟩
Autism spectrum disorders (ASD) are neurodevelopmental disorders characterised by deficits in social communication and repetitive behaviours. Alterations in brain connectivity are the most replicated findings in ASD patients. The CNTNAP2 gene, coding
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1398::871aae61fc70b611852f42d8b3ab5e44
https://theses.hal.science/tel-03357693/document
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3
Akademický článek
Alteration of DNA mismatch repair capacity underlying the co-occurrence of non-small-cell lung cancer and nonmedullary thyroid cancer.
Autor: Fujita, Shiro1,2 jp.shirofujita@gmail.com, Masago, Katsuhiro2,3
Publikováno v: Scientific Reports. 2/11/2021, Vol. 11 Issue 1, p1-8. 8p.
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4
Akademický článek
Mutations in the ARAP3 Gene in Three Families with Primary Lymphedema Negative for Mutations in Known Lymphedema-Associated Genes.
Autor: Ricci, Maurizio1 (AUTHOR), Compagna, Rita2 (AUTHOR), Amato, Bruno3 (AUTHOR), Kenanoglu, Sercan4,5 (AUTHOR), Veselenyiova, Dominika5,6 (AUTHOR), Kurti, Danjela5,7 (AUTHOR), Baglivo, Mirko5 (AUTHOR), Basha, Syed Hussain8 (AUTHOR), Serrani, Roberta1 (AUTHOR), Miggiano, Giacinto Abele Donato9,10 (AUTHOR), Aquilanti, Barbara9 (AUTHOR), Matera, Giuseppina9 (AUTHOR), Marceddu, Giuseppe5 (AUTHOR), Velluti, Valeria9 (AUTHOR), Gagliardi, Lucilla9 (AUTHOR), Dundar, Munis4 (AUTHOR), Krajcovic, Juraj6 (AUTHOR), Bertelli, Matteo5,11,12 (AUTHOR)
Publikováno v: International Journal of Genomics. 8/25/2020, p1-9. 9p. 4 Diagrams, 6 Charts.
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5
Akademický článek
Exploring the Landscape of Pre- and Post-Synaptic Pediatric Disorders with Epilepsy: A Narrative Review on Molecular Mechanisms Involved.
Autor: Scorrano, Giovanna1 (AUTHOR) scorranogiovanna10@gmail.com, Di Francesco, Ludovica2 (AUTHOR) difrancesco.ludovica@gmail.com, Di Ludovico, Armando1 (AUTHOR) armandodl@outlook.com, Chiarelli, Francesco1 (AUTHOR) francesco.chiarelli@unich.it, Matricardi, Sara1 (AUTHOR) sara.matricardi@unich.it
Publikováno v: International Journal of Molecular Sciences. Nov2024, Vol. 25 Issue 22, p11982. 25p.
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6
Akademický článek
Genome Sequencing Identifies 13 Novel Candidate Risk Genes for Autism Spectrum Disorder in a Qatari Cohort.
Autor: Ben-Mahmoud, Afif1 (AUTHOR) abenmahmoud@hbku.edu.qa, Gupta, Vijay1 (AUTHOR) vgupta@hbku.edu.qa, Abdelaleem, Alice1,2 (AUTHOR) alicealeem@yahoo.com, Thompson, Richard1 (AUTHOR) ithompson@hbku.edu.qa, Aden, Abdi1 (AUTHOR) abaden@hbku.edu.qa, Mbarek, Hamdi3 (AUTHOR) hmbarek@qf.org.qa, Saad, Chadi3 (AUTHOR) csaad@qf.org.qa, Tolefat, Mohamed4 (AUTHOR) mohamed.tolefat@shafallah.org.qa, Alshaban, Fouad1 (AUTHOR) falshaban@hbku.edu.qa, Stanton, Lawrence W.1 (AUTHOR) lstanton@hbku.edu.qa, Kim, Hyung-Goo1,5 (AUTHOR) lstanton@hbku.edu.qa
Publikováno v: International Journal of Molecular Sciences. Nov2024, Vol. 25 Issue 21, p11551. 24p.
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7
Akademický článek
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Autor: Khan, Hina1 (AUTHOR), Muzaffar, Fariha1 (AUTHOR), Salman, Midhat1,2 (AUTHOR), Bashir, Rasheeda1,3 (AUTHOR), Seo, Go Hun4 (AUTHOR), Naz, Sadaf1 (AUTHOR) naz.sbs@pu.edu.pk
Publikováno v: Scientific Reports. 9/13/2024, Vol. 14 Issue 1, p1-14. 14p.
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8
Akademický článek
Variant of TSHR is Not a Frequent Cause of Congenital Hypothyroidism in Chinese Han Patients.
Autor: Xue, Peng, Yang, Yuqi, Yun, Qi, Cui, Yue, Yu, Bin, Long, Wei
Publikováno v: International Journal of General Medicine; Aug2021, Vol. 14, p4135-4143, 9p
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9
Akademický článek
Genetic Factors Associated with the Development of Neuropathy in Type 2 Diabetes.
Autor: Tordai, Dóra Zsuszanna1 (AUTHOR) hajdu.no3mi@gmail.com, Hajdú, Noémi1 (AUTHOR) istildi78@gmail.com, Rácz, Ramóna1 (AUTHOR) bekeffy.magdi95@gmail.com, Istenes, Ildikó1 (AUTHOR) vagiorsi@gmail.com, Békeffy, Magdolna1 (AUTHOR) anna.korei@yahoo.com, Vági, Orsolya Erzsébet1 (AUTHOR) balint.tobias@gmail.com, Kempler, Miklós2 (AUTHOR) kemplersoma@gmail.com, Körei, Anna Erzsébet1 (AUTHOR) illes.anett@med.semmelweis-univ.hu, Tóbiás, Bálint1,3,4,5 (AUTHOR) kristof.arvai@gmail.com, Illés, Anett1,3,5 (AUTHOR) janos.kosa@gmail.com, Pikó, Henriett1,3,5 (AUTHOR) lakatos.peter@med.semmelweis-univ.hu, Kósa, János Pál1,3,4,5 (AUTHOR) kempler.peter@med.semmelweis-univ.hu, Árvai, Kristóf3,4 (AUTHOR), Papp, Márton6 (AUTHOR) pappmarci95@gmail.com, Lakatos, Péter András1,3,4,5 (AUTHOR) zsuzsannaputz@yahoo.com, Kempler, Péter1 (AUTHOR), Putz, Zsuzsanna1,5 (AUTHOR)
Publikováno v: International Journal of Molecular Sciences. Feb2024, Vol. 25 Issue 3, p1815. 15p.
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