المؤلفون: Md. Ashraf Uddin Chowdhury, Ahmed A. Raslan, Eunhye Lee, Juneyong Eum, Byung Joon Hwang, Seung-Hae Kwon, Yun Kee

المصدر: Animal Cells and Systems, Vol 25, Iss 3, Pp 136-145 (2021)

مصطلحات موضوعية: zebrafish, laterality defect, heterotaxy, cardiovascular histopathology, parapineal, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1976-8354; https://doaj.org/toc/2151-2485

URL الوصول: https://doaj.org/article/06ab116cb709426f9521215937a4d5c5

المؤلفون: Dinu Antony, Elif Gulec Yilmaz, Alper Gezdirici, Lennart Slagter, Zeineb Bakey, Helen Bornaun, Ibrahim Cansaran Tanidir, Tran Van Dinh, Han G. Brunner, Peter Walentek, Sebastian J. Arnold, Rolf Backofen, Miriam Schmidts

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: laterality defect, situs inversus, exome, cilium, primary ciliary dyskinesia, dynein, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.861236/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/4e48fa0a6a1249bf9f4769be2632b89b

المؤلفون: KARADAĞ, BÜLENT TANER

المساهمون: Goutaki, Myrofora, Halbeisen, Florian S., Barbato, Angelo, Crowley, Suzanne, Harris, Amanda, Hirst, Robert A., Karadag, Bulent, Martinu, Vendula, Morgan, Lucy, O'Callaghan, Christopher, Ozcelik, Ugur, Scigliano, Sergio, Ucros, Santiago, Yiallouros, Panayiotis, Schulzke, Sven M., Kuehni, Claudia E.

مصطلحات موضوعية: primary ciliary dyskinesia, neonatal respiratory distress, laterality defect, orphan diseases, DEFECTS

وصف الملف: application/pdf

Relation: JOURNAL OF CLINICAL MEDICINE; https://hdl.handle.net/11424/243188; WOS:000580699600001

الاتاحة: https://hdl.handle.net/11424/243188
https://doi.org/10.3390/jcm9092871

المؤلفون: Mastromoro, Gioia, Guadagnolo, Daniele, Novelli, Antonio, Torres, Barbara, Piane, Maria, Magliozzi, Monia, Bernardini, Laura, Ventriglia, Flavia, Pizzuti, Antonio, Petrucci, Simona

المساهمون: Mastromoro, Gioia, Guadagnolo, Daniele, Novelli, Antonio, Torres, Barbara, Piane, Maria, Magliozzi, Monia, Bernardini, Laura, Ventriglia, Flavia, Pizzuti, Antonio, Petrucci, Simona

مصطلحات موضوعية: CFAP53, Prenatal diagnosi, laterality defect, molecular genetic, prenatal exome sequencing

Relation: info:eu-repo/semantics/altIdentifier/pmid/37041101; info:eu-repo/semantics/altIdentifier/wos/WOS:000969108400001; volume:36; issue:1; firstpage:2201653; journal:THE JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE; https://hdl.handle.net/11573/1682972; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85152272340

الاتاحة: https://hdl.handle.net/11573/1682972
https://doi.org/10.1080/14767058.2023.2201653

المؤلفون: Hjeij, Rim, Aprea, Isabella, Poeta, Marco, Nöthe-Menchen, Tabea, Bracht, Diana, Raidt, Johanna, Honecker, Barbara I, Dougherty, Gerard W, Olbrich, Heike, Schwartz, Oliver, Keller, Ulrike, Nüsse, Harald, Diderich, Karin E M, Vogelberg, Christian, Santamaria, Francesca, Omran, Heymut

المساهمون: Hjeij, Rim, Aprea, Isabella, Poeta, Marco, Nöthe-Menchen, Tabea, Bracht, Diana, Raidt, Johanna, Honecker, Barbara I, Dougherty, Gerard W, Olbrich, Heike, Schwartz, Oliver, Keller, Ulrike, Nüsse, Harald, Diderich, Karin E M, Vogelberg, Christian, Santamaria, Francesca, Omran, Heymut

مصطلحات موضوعية: EFCAB1, Laterality defect, ODA, ODAD, PCD

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000956575400001; volume:25; issue:5; firstpage:100798; lastpage:100798; numberofpages:1; journal:GENETICS IN MEDICINE; https://hdl.handle.net/11588/945286; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85149868723; https://www.sciencedirect.com/science/article/pii/S1098360023008110?via=ihub

الاتاحة: https://hdl.handle.net/11588/945286
https://doi.org/10.1016/j.gim.2023.100798
https://www.sciencedirect.com/science/article/pii/S1098360023008110?via=ihub

المؤلفون: Byung Joon Hwang, Juneyong Eum, Seung-Hae Kwon, Eunhye Lee, Yun Kee, Ahmed A. Raslan, Md. Ashraf Uddin Chowdhury

المصدر: Animal Cells and Systems, Vol 25, Iss 3, Pp 136-145 (2021)
Animal Cells and Systems
article-version (VoR) Version of Record

مصطلحات موضوعية: 0301 basic medicine, Medicine (General), animal structures, QH301-705.5, Bioinformatics, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 0302 clinical medicine, Development & Genetics, R5-920, Medicine, laterality defect, Biology (General), Zebrafish, biology, parapineal, business.industry, heterotaxy, biology.organism_classification, zebrafish, 030104 developmental biology, 030220 oncology & carcinogenesis, Laterality, embryonic structures, Animal Science and Zoology, business, Heterotaxy, Research Article, cardiovascular histopathology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::212042c4fdc9fc837fbd218454b838e8
https://doaj.org/article/06ab116cb709426f9521215937a4d5c5

المؤلفون: Carolina Putotto, Elio Caruso, Bruno Marino, Maria Cristina Digilio, Antonio Novelli, Salvatore Agati

المساهمون: Putotto, Carolina, Caruso, Elio, MARINO TAUSSIG DE BODONIA, Bruno, Cristina Digilio, Maria, Novelli, Antonio, Agati, Salvatore

مصطلحات موضوعية: Anatomically corrected malposition of the great arterie, Nodal gene, discordant atrioventricular connection, laterality defect, ventricular l-loop

Relation: info:eu-repo/semantics/altIdentifier/pmid/35593432; info:eu-repo/semantics/altIdentifier/wos/WOS:000798091500001; volume:33; issue:1; firstpage:1; lastpage:3; numberofpages:3; journal:CARDIOLOGY IN THE YOUNG; https://hdl.handle.net/11573/1684184; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85165721619

الاتاحة: https://hdl.handle.net/11573/1684184
https://doi.org/10.1017/S1047951122001585

المؤلفون: Giulio Calcagni, Paolo Versacci, S. Genovese, Maria Lisa Dentici, Benedetto Marino, Luigi Laino, Antonio Novelli, Bruno Dallapiccola, G. Calvieri, Maria Cristina Digilio, Sara Loddo, Rossella Capolino, Irene Bottillo

مصطلحات موضوعية: Heart Defects, Congenital, medicine.medical_specialty, Foramen secundum, congenital heart defect, Bicuspid aortic valve, Recurrence, Internal medicine, Mitral valve, 2q13 deletion, Genetics, medicine, Humans, Mitral valve prolapse, laterality defect, Deletion syndrome, cardiovascular diseases, Atrioventricular Septal Defect, Genetics (clinical), Genitourinary system, business.industry, complex atrioventricular canal defect, Genetic disorder, General Medicine, medicine.disease, medicine.anatomical_structure, Chromosomes, Human, Pair 2, cardiovascular system, Cardiology, Chromosome Deletion, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99f3ee35924637943d22ceadb9a7b019
http://hdl.handle.net/11573/1617018

المؤلفون: Dinu Antony, Elif Gulec Yilmaz, Alper Gezdirici, Lennart Slagter, Zeineb Bakey, Helen Bornaun, Ibrahim Cansaran Tanidir, Tran Van Dinh, Han G. Brunner, Peter Walentek, Sebastian J. Arnold, Rolf Backofen, Miriam Schmidts

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, laterality defect, situs inversus, exome, cilium, primary ciliary dyskinesia, dynein, PIFO, PKD1L1

Relation: https://figshare.com/articles/dataset/Table1_Spectrum_of_Genetic_Variants_in_a_Cohort_of_37_Laterality_Defect_Cases_xlsx/19587577

الاتاحة: https://doi.org/10.3389/fgene.2022.861236.s002
https://figshare.com/articles/dataset/Table1_Spectrum_of_Genetic_Variants_in_a_Cohort_of_37_Laterality_Defect_Cases_xlsx/19587577

المؤلفون: Dinu Antony, Elif Gulec Yilmaz, Alper Gezdirici, Lennart Slagter, Zeineb Bakey, Helen Bornaun, Ibrahim Cansaran Tanidir, Tran Van Dinh, Han G. Brunner, Peter Walentek, Sebastian J. Arnold, Rolf Backofen, Miriam Schmidts

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, laterality defect, situs inversus, exome, cilium, primary ciliary dyskinesia, dynein, PIFO, PKD1L1

Relation: https://figshare.com/articles/dataset/DataSheet1_Spectrum_of_Genetic_Variants_in_a_Cohort_of_37_Laterality_Defect_Cases_docx/19587574

الاتاحة: https://doi.org/10.3389/fgene.2022.861236.s001
https://figshare.com/articles/dataset/DataSheet1_Spectrum_of_Genetic_Variants_in_a_Cohort_of_37_Laterality_Defect_Cases_docx/19587574

المؤلفون: O’Callaghan Chris, E Kuehni Claudia, Goutaki Myrofora, Ucros Santiago, Morgan Lucy, Crowley Suzanne, Yiallouros Panayiotis, Martinu Vendula, Ozçelik Ugur, Karadag Bülent, M Schulzke Sven, Harris Amanda, S Halbeisen Florian, Scigliano Sergio, A Hirst Robert, Barbato Angelo

المصدر: Journal of Clinical Medicine
Volume 9
Issue 9
Journal of Clinical Medicine, Vol 9, Iss 2871, p 2871 (2020)
Goutaki, Myrofora; Halbeisen, Florian Samuel; Barbato, Angelo; Crowley, Suzanne; Harris, Amanda; Hirst, Robert A; Karadag, Bülent; Martinu, Vendula; Morgan, Lucy; O'Callaghan, Christopher; Ozçelik, Ugur; Scigliano, Sergio; Ucros, Santiago; Yiallouros, Panayiotis; Schulzke, Sven M; Kuehni, Claudia E (2020). Late Diagnosis of Infants with PCD and Neonatal Respiratory Distress. Journal of clinical medicine, 9(9), E2871. MDPI 10.3390/jcm9092871 <http://dx.doi.org/10.3390/jcm9092871>

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, lcsh:Medicine, primary ciliary dyskinesia, 610 Medicine & health, Article, orphan diseases, 360 Social problems & social services, otorhinolaryngologic diseases, Medicine, laterality defect, Neonatology, Primary ciliary dyskinesia, business.industry, lcsh:R, Neonatal respiratory distress, medicine.disease, neonatal respiratory distress, medicine.anatomical_structure, Late diagnosis, Cohort, Laterality, business, Situs solitus, Cohort study

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::173d6ccb4f322534c2ca33b29f5d172d

المؤلفون: M. Cristina Digilio, Paolo Versacci, Francesca Lepri, Anwar Baban, Bruno Dallapiccola, Bruno Marino

المصدر: Cardiogenetics, Vol 1, Iss 1, Pp e7-e7 (2011)

مصطلحات موضوعية: atrioventricular canal defect, chromosomal syndrome, RASopathies, polydactyly, laterality defect., Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: http://www.pagepressjournals.org/index.php/cardiogen/article/view/114; https://doaj.org/toc/2035-8253; https://doaj.org/toc/2035-8148

URL الوصول: https://doaj.org/article/8766ced296f34471a22c798b84a177a6

المؤلفون: Shapiro, Adam J., Tolleson-Rinehart, Sue, Zariwala, Maimoona A., Knowles, Michael R., Leigh, Margaret W.

المساهمون: University of North Carolina at Chapel Hill

المصدر: Cardiology in the Young, 25(4)

مصطلحات موضوعية: Prevalence, Child, Kartagener Syndrome, Female, Middle Aged, Ireland, Heterotaxy Syndrome, Adolescent, Australia, Canada, laterality defect, Infant, Preschool, Male, Adult, Health Surveys, Humans, Internet, psy, socio

Relation: https://doi.org/10.17615/mrd1-3s60

الاتاحة: https://doi.org/10.17615/mrd1-3s60