المؤلفون: Francesca Destro, Eleonora Durante, Raffaele Salerno, Alessandro Campari, Milena Meroni, Veronica Diotto, Marco Brunero, Gloria Pelizzo

المصدر: Frontiers in Pediatrics, Vol 12 (2024)

مصطلحات موضوعية: children, chronic pancreatitis, bilio-pancreatic malformation, PRSS1, endoscopy, genetic malformations, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2024.1393891/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/d594d5775f5c4ae9bbcbe245fb8fb658

المؤلفون: del Río Hernández, Fabián Andrés, Arley Yela, Hamilton, Torrents González, Ricardo Antonio

المصدر: Biociencias; Volumen 18 Número 2 de 2023 ; 2390-0512 ; 0124-0110

مصطلحات موضوعية: encefalocele occipital, malformaciones genéticas, IVE, occipital encephalocele, genetic malformations

وصف الملف: application/pdf

Relation: https://revistas.unilibre.edu.co/index.php/biociencias/article/view/11546/11441; https://revistas.unilibre.edu.co/index.php/biociencias/article/view/11546

الاتاحة: https://revistas.unilibre.edu.co/index.php/biociencias/article/view/11546
https://doi.org/10.18041/2390-0512/biociencias.2.11546

المؤلفون: del Río Hernández, Fabián Andrés, Arley Yela, Hamilton, Torrents, Ricardo

المصدر: Biociencias, ISSN 2390-0512, Vol. 18, Nº. 2, 2023

مصطلحات موضوعية: encefalocele occipital, malformaciones genéticas, IVE, occipital encephalocele, genetic malformations

وصف الملف: application/pdf

Relation: https://dialnet.unirioja.es/servlet/oaiart?codigo=9610982; (Revista) ISSN 2390-0512

الاتاحة: https://dialnet.unirioja.es/servlet/oaiart?codigo=9610982

المؤلفون: Lange, Max, Kasper, Burkhard, Bohring, Axel, Rutsch, Frank, Kluger, Gerhard, Hoffjan, Sabine, Spranger, Stephanie, Behnecke, Anne, Ferbert, Andreas, Hahn, Andreas, Oehl-Jaschkowitz, Barbara, Graul-Neumann, Luitgard, Diepold, Katharina, Schreyer, Isolde, Bernhard, Matthias K, Mueller, Franziska, Siebers-Renelt, Ulrike, Beleza-Meireles, Ana, Uyanik, Goekhan, Janssens, Sandra, Boltshauser, Eugen, Winkler, Juergen, Schuierer, Gerhard, Hehr, Ute

المصدر: ORPHANET JOURNAL OF RARE DISEASES ; ISSN: 1750-1172

مصطلحات موضوعية: Medicine and Health Sciences, Seizures, Phenotype, Score, Imaging, Filamin A, Periventricular nodular heterotopia, FILAMIN-A, MALES, CORTICAL DEVELOPMENT, GENETIC MALFORMATIONS, PHENOTYPIC HETEROGENEITY, MIGRATION, MUTATIONS, EPILEPSY

وصف الملف: application/pdf

Relation: https://biblio.ugent.be/publication/7082570; http://hdl.handle.net/1854/LU-7082570; http://dx.doi.org/10.1186/s13023-015-0331-9; https://biblio.ugent.be/publication/7082570/file/7082597

الاتاحة: https://biblio.ugent.be/publication/7082570
http://hdl.handle.net/1854/LU-7082570
https://doi.org/10.1186/s13023-015-0331-9
https://biblio.ugent.be/publication/7082570/file/7082597

المؤلفون: Chantal E. Holy, Molly S. Shoichet, John E. Davies

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://www.ecf.toronto.edu/~molly/Binder/enginnering 3-dimensional bone tissue in vitro using biodegradable scaffolds.pdf.

مصطلحات موضوعية: Bone injuries, genetic malformations, and

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.468.7850; http://www.ecf.toronto.edu/~molly/Binder/enginnering 3-dimensional bone tissue in vitro using biodegradable scaffolds.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.468.7850
http://www.ecf.toronto.edu/~molly/Binder/enginnering 3-dimensional bone tissue in vitro using biodegradable scaffolds.pdf

المؤلفون: Ana Beleza-Meireles, Andreas Ferbert, Burkhard S. Kasper, Matthias K. Bernhard, Gerhard Schuierer, Ute Hehr, Sabine Hoffjan, Juergen Winkler, Gerhard Kluger, Franziska Mueller, Andreas Hahn, Anne Behnecke, Stephanie Spranger, Eugen Boltshauser, Axel Bohring, Luitgard Graul-Neumann, Max Lange, Katharina Diepold, G. Uyanik, Ulrike Siebers-Renelt, Sandra Janssens, Barbara Oehl-Jaschkowitz, Isolde Schreyer, Frank Rutsch

المساهمون: University of Zurich, Lange, Max

المصدر: ORPHANET JOURNAL OF RARE DISEASES
Orphanet Journal of Rare Diseases

مصطلحات موضوعية: Male, Pediatrics, Imaging, Cohort Studies, Epilepsy, 610 Medical sciences Medicine, Medizinische Fakultät, Medicine and Health Sciences, Medicine, FLNA, 2736 Pharmacology (medical), Genetics(clinical), Pharmacology (medical), Family history, Young adult, Child, Genetics (clinical), EPILEPSY, Medicine(all), Psychomotor learning, medicine.diagnostic_test, Score, General Medicine, Middle Aged, Filamin A, Periventricular nodular heterotopia, Phenotype, MALES, Child, Preschool, Female, Adult, medicine.medical_specialty, 2716 Genetics (clinical), Adolescent, MIGRATION, Filamins, FILAMIN-A, Neurological examination, 610 Medicine & health, Young Adult, PHENOTYPIC HETEROGENEITY, Seizures, Humans, ddc:610, GENETIC MALFORMATIONS, Aged, Retrospective Studies, business.industry, MUTATIONS, Research, Infant, CORTICAL DEVELOPMENT, Retrospective cohort study, medicine.disease, 10036 Medical Clinic, Mutation, Age of onset, business

وصف الملف: LangeM, 2015.pdf - application/pdf; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71b36f311010b3f9136b1910832035b8
https://doi.org/10.5167/uzh-121018

المؤلفون: Figueredo Lascarro, Michelle

المساهمون: Filgueira Duarte, Juan José

مصطلحات موضوعية: Patrones de herencia modificada, Genetic malformations, Modified patterns of heritage, Hibridación, Alelos multiples, DIANTHUS CARYOPHYLLUS, Epigenetic, Malformaciones genéticas, Epigenética, Hybridization, Multiple alleles, DIANTHUS CARYOPHYLLUS - CARACTERISTICAS MORFOLOGICAS

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______2802::fda0c3bf4a21e4a2cd9e98f3ed600d03
https://hdl.handle.net/10654/12770

المؤلفون: Moşin, Veaceslav, Dobrovolskaia-Catrinici, Aliona, Halabudenco, Elena, Sacară, Victoria, Stratilă, Mihail

مصطلحات موضوعية: chromosomal abnormalities, pregnancy evolution, genetic malformations

وصف الملف: application/pdf

Relation: MOŞIN, Veaceslav, DOBROVOLSKAIA-CATRINICI, Aliona et al. Incidenţa anomaliilor cromozomiale în dependenţă de vârsta gravidei, diagnosticul pre şi postnatal în Republica Moldova. In: Anale Științifice ale USMF “Nicolae Testemiţanu”. Ed. a 13-a. Chișinău: CEP Medicina, 2012, vol. 5: Probleme actuale ale sănătăţii mamei şi copilului, pp. 69-73.; http://repository.usmf.md/handle/20.500.12710/5095

الاتاحة: http://repository.usmf.md/handle/20.500.12710/5095
https://hdl.handle.net/20.500.12710/5095

المؤلفون: Figueredo Lascarro, Michelle

المساهمون: Filgueira Duarte, Juan José

مصطلحات موضوعية: DIANTHUS CARYOPHYLLUS, DIANTHUS CARYOPHYLLUS - CARACTERISTICAS MORFOLOGICAS, Hybridization, Genetic malformations, Modified patterns of heritage, Epigenetic, Multiple alleles, Hibridación, Malformaciones genéticas, Patrones de herencia modificada, Epigenética, Alelos multiples

وصف الملف: application/pdf

Relation: http://hdl.handle.net/10654/12770

الاتاحة: http://hdl.handle.net/10654/12770