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1دورية أكاديمية
المؤلفون: Ramón Peces, Carlos Peces, Laura Espinosa, Rocío Mena, Carolina Blanco, Jair Tenorio-Castaño, Pablo Lapunzina, Julián Nevado
المصدر: Genes, Vol 14, Iss 10, p 1878 (2023)
مصطلحات موضوعية: familial hyperkalemic hypertension, Gordon syndrome, pseudohypoaldosteronism type II, metabolic acidosis, WNK1 missense variant, Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Cristina Bel-Fenellós, Chantal Biencinto-López, Belén Sáenz-Rico, Adolfo Hernández, Ana Karen Sandoval-Talamantes, Jair Tenorio-Castaño, Pablo Lapunzina, Julián Nevado
المصدر: Genes, Vol 14, Iss 8, p 1628 (2023)
مصطلحات موضوعية: behavioral assessment, cognitive assessment, Cri du Chat syndrome, 5p- Syndrome, SNP-arrays, Genetics, QH426-470
وصف الملف: electronic resource
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3دورية أكاديميةNovel TNIP2 and TRAF2 Variants Are Implicated in the Pathogenesis of Pulmonary Arterial Hypertension
المؤلفون: Shaun Pienkos, Natalia Gallego, David F. Condon, Alejandro Cruz-Utrilla, Nuria Ochoa, Julián Nevado, Pedro Arias, Stuti Agarwal, Hiral Patel, Ananya Chakraborty, Pablo Lapunzina, Pilar Escribano, Jair Tenorio-Castaño, Vinicio A. de Jesús Pérez
المصدر: Frontiers in Medicine, Vol 8 (2021)
مصطلحات موضوعية: pulmonary arterial hypertension, NF-κB, inflammation, massive paralleled sequencing, TNIP2, TRAF2, Medicine (General), R5-920
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Natalia Gallego-Zazo, Alejandro Cruz-Utrilla, María Jesús del Cerro, Nuria Ochoa Parra, Julián Nevado Blanco, Pedro Arias, Pablo Lapunzina, Pilar Escribano-Subias, Jair Tenorio-Castaño
المصدر: Genes, Vol 13, Iss 5, p 927 (2022)
مصطلحات موضوعية: AQP1, pulmonary arterial hypertension, massive paralleled sequencing, NGS, genomic medicine, personalized medicine, Genetics, QH426-470
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Natalia Gallego, Alejandro Cruz-Utrilla, Inmaculada Guillén, Amparo Moya Bonora, Nuria Ochoa, Pedro Arias, Pablo Lapunzina, Pilar Escribano-Subias, Julián Nevado, Jair Tenorio-Castaño
المصدر: Cells, Vol 10, Iss 11, p 3178 (2021)
مصطلحات موضوعية: GDF2, hereditary hemorrhagic telangiectasia, pulmonary arterial hypertension, massive parallel sequencing, NGS, genomic medicine, Cytology, QH573-671
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Jair Tenorio-Castaño, Beatriz Morte, Julián Nevado, Víctor Martinez-Glez, Fernando Santos-Simarro, Sixto García-Miñaúr, María Palomares-Bralo, Marta Pacio-Míguez, Beatriz Gómez, Pedro Arias, Alba Alcochea, Juan Carrión, Patricia Arias, Berta Almoguera, Fermina López-Grondona, Isabel Lorda-Sanchez, Enrique Galán-Gómez, Irene Valenzuela, María Pilar Méndez Perez, Ivón Cuscó, Francisco Barros, Juan Pié, Sergio Ramos, Feliciano J. Ramos, Alma Kuechler, Eduardo Tizzano, Carmen Ayuso, Frank J. Kaiser, Luis A. Pérez-Jurado, Ángel Carracedo, The ENoD-CIBERER Consortium, The SIDE Consortium, Pablo Lapunzina
المصدر: Genes, Vol 12, Iss 5, p 738 (2021)
مصطلحات موضوعية: Schuurs–Hoeijmakers syndrome, intellectual disability, PACS1, rare disorders, phosphofurin acidic cluster sorting protein 1, pathogenic variant c.607C >, Genetics, QH426-470
وصف الملف: electronic resource
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المؤلفون: Bernt Popp, Thierry Bienvenu, Irina Giurgea, Julia Metreau, Cornelia Kraus, André Reis, Jan Fischer, María Palomares Bralo, Jair Tenorio‐Castaño, Pablo Lapunzina, Berta Almoguera, Fermina Lopez‐Grondona, Heinrich Sticht, Christiane Zweier
المصدر: Clinical Genetics. 102:517-523
مصطلحات موضوعية: Genetics, Genetics (clinical)
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8
المؤلفون: William A. Drust, Alessandro Mussa, Andrea Gazzin, Pablo Lapunzina, Jair Tenorio‐Castaño, Julian Nevado, Patricia Pascual, Pedro Arias, Alejandro Parra, Kelly D. Getz, Jennifer M. Kalish
المصدر: American Journal of Medical Genetics Part C: Seminars in Medical Genetics.
مصطلحات موضوعية: Genetics, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::257b05c9136ae98d9f22288c013600b0
https://doi.org/10.1002/ajmg.c.32046 -
9دورية أكاديمية
المؤلفون: Deborah J. G. Mackay, Gabriella Gazdagh, David Monk, Frederic Brioude, Eloise Giabicani, Izabela M. Krzyzewska, Jennifer M. Kalish, Saskia M. Maas, Masayo Kagami, Jasmin Beygo, Tiina Kahre, Jair Tenorio-Castano, Laima Ambrozaitytė, Birutė Burnytė, Flavia Cerrato, Justin H. Davies, Giovanni Battista Ferrero, Olga Fjodorova, Africa Manero-Azua, Arrate Pereda, Silvia Russo, Pierpaola Tannorella, Karen I. Temple, Katrin Õunap, Andrea Riccio, Guiomar Perez de Nanclares, Eamonn R. Maher, Pablo Lapunzina, Irène Netchine, Thomas Eggermann, Jet Bliek, Zeynep Tümer
المصدر: Clinical Epigenetics, Vol 16, Iss 1, Pp 1-19 (2024)
مصطلحات موضوعية: Differentially methylated regions, DMR, Multi-locus imprinting disturbance, MLID, Imprinting disorder, Clinical diagnosis, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1868-7083
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المؤلفون: Bernt, Popp, Thierry, Bienvenu, Irina, Giurgea, Julia, Metreau, Cornelia, Kraus, André, Reis, Jan, Fischer, María Palomares, Bralo, Jair, Tenorio-Castaño, Pablo, Lapunzina, Berta, Almoguera, Fermina, Lopez-Grondona, Heinrich, Sticht, Christiane, Zweier
المساهمون: Universität Leipzig [Leipzig], Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Institut de psychiatrie et neurosciences de Paris (IPNP - U1266 Inserm), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), UF de Génétique moléculaire [CHU Trousseau], CHU Trousseau [APHP], AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Friedrich-Alexander Universität Erlangen-Nürnberg (FAU), University Hospital Carl Gustav Carus [Dresden, Germany], Technische Universität Dresden = Dresden University of Technology (TU Dresden), Hospital Universitario La Paz, Centro Nacional de Microbiología [ISCIII, Madrid, Spain] (CNM), Instituto de Salud Carlos III [Madrid] (ISC), Inselspital Bern, Universität Bern [Bern] (UNIBE), Couvet, Sandrine
المصدر: Clinical Genetics
Clinical Genetics, 2022, 102 (6), pp.517-523. ⟨10.1111/cge.14206⟩مصطلحات موضوعية: Epilepsy, MESH: Humans, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, [SDV]Life Sciences [q-bio], [SDV.NEU.NB] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Facies, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, missense variant, neurodevelopmental disorder, PTHS, MESH: Intellectual Disability, MESH: Hyperventilation, [SDV] Life Sciences [q-bio], Transcription Factor 4, MESH: Facies, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, intellectual disability, Pitt-Hopkins syndrome, MESH: Epilepsy, Humans, Hyperventilation, MESH: Transcription Factor 4, TCF4
وصف الملف: application/pdf
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